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DMD dystrophin [ Homo sapiens (human) ]

Gene ID: 1756, updated on 25-Nov-2021

Summary

Official Symbol
DMDprovided by HGNC
Official Full Name
dystrophinprovided by HGNC
Primary source
HGNC:HGNC:2928
See related
Ensembl:ENSG00000198947 MIM:300377
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
Summary
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in heart (RPKM 7.1), fat (RPKM 4.3) and 23 other tissues See more
Orthologs
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Genomic context

See DMD in Genome Data Viewer
Location:
Xp21.2-p21.1
Exon count:
89
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (31119219..33339460, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (31137339..33357505, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TAB3 antisense RNA 1 Neighboring gene TGF-beta activated kinase 1 (MAP3K7) binding protein 3 Neighboring gene ferritin heavy chain like 17 Neighboring gene RNA, U6 small nuclear 894, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 501 Neighboring gene nucleophosmin 1 pseudogene 8 Neighboring gene microRNA 3915 Neighboring gene microRNA 548f-5 Neighboring gene tubulin folding cofactor A pseudogene 1 Neighboring gene lysosomal associated membrane protein 1 pseudogene Neighboring gene uncharacterized LOC105373153

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
GeneReviews: Not available
Becker muscular dystrophy
MedGen: C0917713 OMIM: 300376 GeneReviews: Dystrophinopathies
Compare labs
Dilated cardiomyopathy 3B
MedGen: C3668940 OMIM: 302045 GeneReviews: Dystrophinopathies
Compare labs
Duchenne muscular dystrophy Compare labs
Dystrophinopathies
MedGen: CN043595 GeneReviews: Dystrophinopathies
Compare labs
Genome-wide association study of co-occurring anxiety in major depression.
GeneReviews: Not available
Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2019-11-20)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2019-11-20)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin binding TAS
Traceable Author Statement
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dystroglycan binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables myosin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables nitric-oxide synthase binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
enables structural constituent of muscle IDA
Inferred from Direct Assay
more info
PubMed 
enables structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
enables vinculin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cardiac muscle cell action potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular protein-containing complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in maintenance of blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in muscle cell cellular homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in muscle cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in muscle organ development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of peptidyl-cysteine S-nitrosylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in neuron development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peptide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of sodium ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of heart rate IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of muscle system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of ryanodine-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of skeletal muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in response to muscle stretch ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell-substrate junction ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in costamere IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of dystrophin-associated glycoprotein complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of dystrophin-associated glycoprotein complex TAS
Traceable Author Statement
more info
PubMed 
located_in filopodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in filopodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with lateral plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in neuron projection terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of syntrophin complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
dystrophin
Names
truncated dystrophin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012232.1 RefSeqGene

    Range
    5001..2225382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_199

mRNA and Protein(s)

  1. NM_000109.4NP_000100.3  dystrophin isoform Dp427c

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp427c is expressed predominantly in neurons of the cortex and the CA regions of the hippocampus. It uses a unique promoter/exon 1 located about 130 kb upstream of the Dp427m transcript promoter. The transcript includes the common exon 2 of transcript Dp427m and has a similar length of 14 kb. The Dp427c isoform contains a unique N-terminal MED sequence, instead of the MLWWEEVEDCY sequence of isoform Dp427m. The remainder of isoform Dp427c is identical to isoform Dp427m.
    Source sequence(s)
    AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL050305, AL096699, AL109609, AL139278, AL451144
    Conserved Domains (8) summary
    TIGR01612
    Location:7551930
    235kDa-fam; reticulocyte binding/rhoptry protein
    COG5069
    Location:2224
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:333550
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30513080
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33033351
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:31173278
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:29263031
    Spectrin; Spectrin repeat
    cl02488
    Location:23132571
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. NM_004006.3NP_003997.2  dystrophin isoform Dp427m

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp427m encodes the main dystrophin protein found in muscle. As a result of alternative promoter use, exon 1 encodes a unique N-terminal MLWWEEVEDCY aa sequence.
    Source sequence(s)
    AC079177, AC079864, AL031542, AL031643, AL109609, BC028720, M18533
    Consensus CDS
    CCDS14233.1
    Related
    ENSP00000354923.3, ENST00000357033.9
    Conserved Domains (9) summary
    TIGR01612
    Location:7631938
    235kDa-fam; reticulocyte binding/rhoptry protein
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:31253286
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    cd21231
    Location:11121
    CH_DMD_rpt1; first calponin homology (CH) domain found in dystrophin and similar proteins
    cd21233
    Location:136246
    CH_DMD_rpt2; second calponin homology (CH) domain found in dystrophin and similar proteins
    cl02488
    Location:23212579
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  3. NM_004009.3NP_004000.1  dystrophin isoform Dp427p1

    See identical proteins and their annotated locations for NP_004000.1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp427p1 initiates from a unique promoter/exon 1 located in what corresponds to the first intron of transcript Dp427m. The transcript adds the common exon 2 of Dp427m and has a similar length (14 kb). The Dp427p1 isoform replaces the MLWWEEVEDCY-start of Dp427m with a unique N-terminal MSEVSSD aa sequence.
    Source sequence(s)
    AL049643, AL109609, BC028720, M18533, S64152
    Consensus CDS
    CCDS55395.1
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000367948.2, ENST00000378677.6
    Conserved Domains (11) summary
    COG1340
    Location:17001970
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:131236
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:337554
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30553084
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33073355
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29303036
    Spectrin; Spectrin repeat
    pfam01442
    Location:28903036
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30853203
    EF-hand_2; EF hand
    pfam09069
    Location:32073298
    EF-hand_3; EF-hand
    pfam16769
    Location:34843667
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14631672
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  4. NM_004010.3NP_004001.1  dystrophin isoform Dp427p2

    See identical proteins and their annotated locations for NP_004001.1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp427p2 has an additional 82 nt directly after exon 1 which introduces a translational stop codon 24 bp downstream of the same ATG codon included in the Dp427p1 transcript. This transcript has unknown coding capacity.
    Source sequence(s)
    AL049643, AL109609, BC028720, M18533, S64152
    UniProtKB/Swiss-Prot
    P11532
    Conserved Domains (11) summary
    COG1340
    Location:15811851
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:12117
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:218435
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:29362965
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:31883236
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:28112917
    Spectrin; Spectrin repeat
    pfam01442
    Location:27712917
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:29663084
    EF-hand_2; EF hand
    pfam09069
    Location:30883179
    EF-hand_3; EF-hand
    pfam16769
    Location:33653548
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:13441553
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  5. NM_004011.4NP_004002.3  dystrophin isoform Dp260-1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp260-1 uses exons 30-79, and originates from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene. As a result, Dp260-1 contains a 95 bp exon 1 encoding a unique N-terminal 16 aa MTEIILLIFFPAYFLN-sequence that replaces amino acids 1-1357 of the full-length dystrophin product (Dp427m isoform).
    Source sequence(s)
    AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL109609, AL139278
    Conserved Domains (7) summary
    TIGR01612
    Location:32597
    235kDa-fam; reticulocyte binding/rhoptry protein
    COG1196
    Location:3541228
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:764979
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:17181747
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:19702018
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:17841945
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:15931698
    Spectrin; Spectrin repeat
  6. NM_004012.4NP_004003.2  dystrophin isoform Dp260-2

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp260-2 uses exons 30-79, starting from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene that is alternatively spliced and lacks N-terminal amino acids 1-1357 of the full length dystrophin (Dp427m isoform). The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence.
    Source sequence(s)
    AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL109609, AL139278
    Related
    ENSP00000479270.2, ENST00000619831.5
    Conserved Domains (7) summary
    TIGR01612
    Location:29594
    235kDa-fam; reticulocyte binding/rhoptry protein
    COG1196
    Location:3511225
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:761976
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:17151744
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:19672015
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:17811942
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:15901695
    Spectrin; Spectrin repeat
  7. NM_004013.3NP_004004.2  dystrophin isoform Dp140

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140) contains all of the exons.
    Source sequence(s)
    AC006061, AC078957, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
    Consensus CDS
    CCDS48091.1
    Related
    ENSP00000367979.3, ENST00000378707.7
    Conserved Domains (6) summary
    COG1196
    Location:9751145
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:665826
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:474580
    Spectrin; Spectrin repeat
  8. NM_004014.3NP_004005.2  dystrophin isoform Dp116

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp116 uses exons 56-79, starting from a promoter/exon 1 within intron 55. As a result, the Dp116 isoform contains a unique N-terminal MLHRKTYHVK aa sequence, instead of aa 1-2739 of dystrophin. Differential splicing produces several Dp116-subtypes. The Dp116 isoform is also known as S-dystrophin or apo-dystrophin-2. This variant was curated in collaboration with Johann den Dunnen.
    Source sequence(s)
    AC006061, AC078958, AC079143, AC079175, AC079177, AC090632
    Consensus CDS
    CCDS75965.1
    Related
    ENSP00000340057.4, ENST00000343523.7
    Conserved Domains (6) summary
    COG1196
    Location:706876
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:10204
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:330359
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:582630
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:396557
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:205311
    Spectrin; Spectrin repeat
  9. NM_004015.3NP_004006.1  dystrophin isoform Dp71

    See identical proteins and their annotated locations for NP_004006.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71) includes both exons 71 and 78.
    Source sequence(s)
    AC006061, AC078958, BC028720, BC070078, BC094758
    Consensus CDS
    CCDS14234.1
    UniProtKB/Swiss-Prot
    P11532
    UniProtKB/TrEMBL
    A0A0S2Z3B5
    Related
    ENSP00000367974.4, ENST00000378702.8
    Conserved Domains (3) summary
    COG1196
    Location:367537
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:57218
    EFh_DMD; EF-hand-like motif found in dystrophin
  10. NM_004016.3NP_004007.1  dystrophin isoform Dp71b

    See identical proteins and their annotated locations for NP_004007.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71b) lacks exon 78 and encodes a protein with a different C-terminus than Dp71 and Dp71a isoforms.
    Source sequence(s)
    AC006061, AC078958, BC028720, BC094758
    Consensus CDS
    CCDS14231.1
    UniProtKB/Swiss-Prot
    P11532
    UniProtKB/TrEMBL
    A0A0S2Z3J7
    Related
    ENSP00000367997.3, ENST00000378723.7
    Conserved Domains (3) summary
    COG1196
    Location:367537
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:57218
    EFh_DMD; EF-hand-like motif found in dystrophin
  11. NM_004017.3NP_004008.1  dystrophin isoform Dp71a

    See identical proteins and their annotated locations for NP_004008.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71a) lacks exon 71.
    Source sequence(s)
    AC006061, AC078958, BC028720, BC070078, M92650
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000507640.1, ENST00000682600.1
    Conserved Domains (3) summary
    COG1196
    Location:354524
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:57218
    EFh_DMD; EF-hand-like motif found in dystrophin
  12. NM_004018.3NP_004009.1  dystrophin isoform Dp71ab

    See identical proteins and their annotated locations for NP_004009.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71ab) lacks both exons 71 and 78 and encodes a protein with a C-terminus like isoform Dp71b.
    Source sequence(s)
    AC006061, AC078958, BC028720, DB233002, M92650
    Consensus CDS
    CCDS14232.1
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000354464.4, ENST00000361471.8
    Conserved Domains (3) summary
    COG1196
    Location:354524
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:57218
    EFh_DMD; EF-hand-like motif found in dystrophin
  13. NM_004019.3NP_004010.1  dystrophin isoform Dp40

    See identical proteins and their annotated locations for NP_004010.1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp40 uses exons 63-70. The 5' UTR and encoded first 7 aa are identical to that in transcript Dp71, but the stop codon lies at the splice junction of the exon/intron 70. The 3' UTR includes nt from intron 70 which includes an alternative polyadenylation site. The Dp40 isoform lacks the normal C-terminal end of full-length dystrophin (aa 3409-3685).
    Source sequence(s)
    AC078958, M18533, S42206
    UniProtKB/Swiss-Prot
    P11532
    UniProtKB/TrEMBL
    Q16484
    Related
    ENST00000681654.1
    Conserved Domains (2) summary
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:57218
    EFh_DMD; EF-hand-like motif found in dystrophin
  14. NM_004020.4NP_004011.3  dystrophin isoform Dp140c

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140c) lacks exons 71-74.
    Source sequence(s)
    AC006061, AC078957, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
    Consensus CDS
    CCDS55394.1
    Related
    ENSP00000444119.1, ENST00000541735.5
    Conserved Domains (5) summary
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:665826
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:474580
    Spectrin; Spectrin repeat
  15. NM_004021.3NP_004012.2  dystrophin isoform Dp140b

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140b) lacks exon 78 and encodes a protein with a unique C-terminus.
    Source sequence(s)
    AC006061, AC078957, AC078958, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
    Related
    ENSP00000417123.1, ENST00000474231.5
    Conserved Domains (5) summary
    COG1196
    Location:9751145
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:665826
    EFh_DMD; EF-hand-like motif found in dystrophin
  16. NM_004022.3NP_004013.2  dystrophin isoform D140ab

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140ab) lacks exons 71 and 78 and encodes a protein with a unique C-terminus.
    Source sequence(s)
    AC006061, AC078957, AC078958, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
    Related
    ENSP00000352894.1, ENST00000359836.5
    Conserved Domains (6) summary
    COG1196
    Location:9621132
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:665826
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:474580
    Spectrin; Spectrin repeat
  17. NM_004023.3NP_004014.2  dystrophin isoform Dp140bc

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140bc) lacks exons 71-74 and 78 and encodes a protein with a unique C-terminus.
    Source sequence(s)
    AC006061, AC078957, AC078958, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
    Related
    ENSP00000508124.1, ENST00000682238.1
    Conserved Domains (4) summary
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    cd16246
    Location:665826
    EFh_DMD; EF-hand-like motif found in dystrophin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    31119219..33339460 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724469.3XP_006724532.1  dystrophin isoform X2

    Conserved Domains (11) summary
    COG1340
    Location:16961966
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:127232
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:333550
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30513080
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33033351
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29263032
    Spectrin; Spectrin repeat
    pfam01442
    Location:28863032
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30813199
    EF-hand_2; EF hand
    pfam09069
    Location:32033294
    EF-hand_3; EF-hand
    pfam16769
    Location:34803673
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14591668
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. XM_011545467.1XP_011543769.1  dystrophin isoform X5

    Conserved Domains (11) summary
    COG1340
    Location:16721933
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30183047
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:32703318
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:28932999
    Spectrin; Spectrin repeat
    pfam01442
    Location:28532999
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30483166
    EF-hand_2; EF hand
    pfam09069
    Location:31703261
    EF-hand_3; EF-hand
    pfam16769
    Location:34473640
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  3. XM_006724473.2XP_006724536.1  dystrophin isoform X6

    Conserved Domains (10) summary
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30133042
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:32653313
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:28882994
    Spectrin; Spectrin repeat
    pfam01442
    Location:28482994
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30433161
    EF-hand_2; EF hand
    pfam09069
    Location:31653256
    EF-hand_3; EF-hand
    pfam16769
    Location:34423635
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  4. XM_006724475.2XP_006724538.1  dystrophin isoform X8

    Conserved Domains (11) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam16769
    Location:34263561
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  5. XM_017029328.1XP_016884817.1  dystrophin isoform X4

  6. XM_006724468.2XP_006724531.1  dystrophin isoform X1

    Conserved Domains (11) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam16769
    Location:34883681
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  7. XM_017029331.1XP_016884820.1  dystrophin isoform X13

  8. XM_006724470.3XP_006724533.1  dystrophin isoform X3

    Conserved Domains (11) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam16769
    Location:34753668
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  9. XM_006724474.3XP_006724537.1  dystrophin isoform X7

    Conserved Domains (11) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam16769
    Location:34263571
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  10. XM_011545468.2XP_011543770.1  dystrophin isoform X9

    Conserved Domains (9) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113272
    EF-hand_3; EF-hand
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  11. XM_017029330.2XP_016884819.1  dystrophin isoform X11

  12. XM_017029329.1XP_016884818.1  dystrophin isoform X10

  13. XM_011545469.1XP_011543771.1  dystrophin isoform X12

    Conserved Domains (4) summary
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:16791776
    Spectrin; Spectrin repeat
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_004007.2: Suppressed sequence

    Description
    NM_004007.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which appears to have been derived from a disease-associated deletion mutation.
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