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Dmd dystrophin, muscular dystrophy [ Mus musculus (house mouse) ]

Gene ID: 13405, updated on 22-Nov-2022

Summary

Official Symbol
Dmdprovided by MGI
Official Full Name
dystrophin, muscular dystrophyprovided by MGI
Primary source
MGI:MGI:94909
See related
Ensembl:ENSMUSG00000045103 AllianceGenome:MGI:94909
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
dys; mdx; pke; Dp71; Dp427; DXSmh7; DXSmh9
Summary
This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development and organization of myofibers as contractile units in striated muscles. Mutations in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
Expression
Broad expression in bladder adult (RPKM 4.4), frontal lobe adult (RPKM 2.2) and 23 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Dmd in Genome Data Viewer
Location:
X C1; X 38.38 cM
Exon count:
85
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (81858244..84248656)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (82814664..85205050)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 24470 Neighboring gene aprataxin pseudogene Neighboring gene predicted gene, 54061 Neighboring gene predicted gene, 22580 Neighboring gene testis specific gene A8 Neighboring gene BCL2/adenovirus E1B interacting protein 2 pseudogene Neighboring gene predicted gene, 54062 Neighboring gene proteasome (prosome, macropain) inhibitor subunit 1 pseudogene Neighboring gene predicted gene 14769 Neighboring gene predicted gene 16463 Neighboring gene ferritin, heavy polypeptide-like 17, member A

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables PDZ domain binding ISO
Inferred from Sequence Orthology
more info
 
enables actin binding ISO
Inferred from Sequence Orthology
more info
 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dystroglycan binding ISO
Inferred from Sequence Orthology
more info
 
enables integrin binding ISO
Inferred from Sequence Orthology
more info
 
enables lamin binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables myosin binding ISO
Inferred from Sequence Orthology
more info
 
enables nitric-oxide synthase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables structural constituent of muscle ISO
Inferred from Sequence Orthology
more info
 
enables vinculin binding ISO
Inferred from Sequence Orthology
more info
 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cardiac muscle contraction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within establishment of blood-nerve barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of glial blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within muscle cell cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in muscle cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within muscle cell development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within muscle organ development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within myotube cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of neuron differentiation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of peptidyl-cysteine S-nitrosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron projection morphogenesis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neurotransmitter receptor metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within nucleus localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within olfactory nerve structural organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peptide biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of neuron differentiation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of neuron projection development ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of sodium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein-containing complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell cycle ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cellular response to growth factor stimulus ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of heart rate IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of heart rate ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of membrane potential 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of ryanodine-sensitive calcium-release channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to muscle stretch IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skeletal muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within skeletal muscle tissue development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within skeletal muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in Z disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in astrocyte projection ISO
Inferred from Sequence Orthology
more info
 
located_in axon ISO
Inferred from Sequence Orthology
more info
 
is_active_in cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell projection ISO
Inferred from Sequence Orthology
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
located_in cell-substrate junction IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in costamere ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
part_of dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of dystrophin-associated glycoprotein complex ISO
Inferred from Sequence Orthology
more info
 
located_in filopodium ISO
Inferred from Sequence Orthology
more info
 
located_in filopodium membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lamellipodium ISO
Inferred from Sequence Orthology
more info
 
located_in matrix side of mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane raft ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial outer membrane ISO
Inferred from Sequence Orthology
more info
 
located_in myofibril ISO
Inferred from Sequence Orthology
more info
 
located_in neurofilament ISO
Inferred from Sequence Orthology
more info
 
located_in neuron projection ISO
Inferred from Sequence Orthology
more info
 
located_in neuron projection terminus IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in postsynaptic density ISO
Inferred from Sequence Orthology
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in postsynaptic specialization IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in ribosome ISO
Inferred from Sequence Orthology
more info
 
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 sarcolemma ISO
Inferred from Sequence Orthology
more info
 
located_in secretory granule ISO
Inferred from Sequence Orthology
more info
 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in synaptic vesicle membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
dystrophin
Names
X-linked muscular dystrophy
dystrophin Dp71d(delta71,73-74)

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_001314034.1NP_001300963.1  dystrophin isoform Dp71b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs, and a frameshift, compared to variant 1. The encoded isoform (Dp71b) has distinct N- and C-termini, and is shorter, compared to isoform 1.
    Source sequence(s)
    AK045257, AK159639, AL645477, BQ558690, CX200477, KJ480730
    UniProtKB/TrEMBL
    A0A023ZT56, A0A6P5P433, Q3TWL4
    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
  2. NM_001314035.1NP_001300964.1  dystrophin isoform Dp71ab

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs, and a frameshift, compared to variant 1. The encoded isoform (Dp71ab) has distinct N- and C-termini, and is shorter, compared to isoform 1.
    Source sequence(s)
    AK045257, AK159639, AL645477, BQ558690, CX200477, KJ480731
    UniProtKB/TrEMBL
    A0A023ZTV5, A0A6P7QTW0, Q3TWL4
    Related
    ENSMUSP00000158938.2, ENSMUST00000239019.2
    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
  3. NM_001314036.1NP_001300965.1  dystrophin isoform Dp71

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR, and the use of an alternate start codon, compared to variant 1. The encoded isoform (Dp71) has a distinct N-terminus, and is shorter, compared to isoform 1.
    Source sequence(s)
    AK045257, AK159639, AL645477, BQ558690, CX200477, JN900253
    Consensus CDS
    CCDS85787.1
    UniProtKB/TrEMBL
    A0A6P5NYA4, A2A9Z2, Q3TWL4
    Related
    ENSMUSP00000109624.2, ENSMUST00000113991.8
    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
  4. NM_001314037.1NP_001300966.1  dystrophin isoform Dp71a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR, and the use of an alternate start codon, compared to variant 1. The encoded isoform (Dp71a) has a distinct N-terminus, and is shorter, compared to isoform 1.
    Source sequence(s)
    AK045257, AK159639, AL645477, BQ558690, CX200477, KJ480729
    Consensus CDS
    CCDS85788.1
    UniProtKB/TrEMBL
    A0A6P7QL58, A2A9Z1, Q3TWL4
    Related
    ENSMUSP00000109625.3, ENSMUST00000113992.3
    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
  5. NM_001314038.1NP_001300967.1  dystrophin isoform Dp40

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs, compared to variant 1. The encoded isoform (Dp40) has a distinct N-terminus and a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AK045257, AK075809, KJ480728
    UniProtKB/TrEMBL
    Q8BHM1
    Related
    ENSMUST00000149433.2
    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
  6. NM_007868.6NP_031894.1  dystrophin isoform 1

    See identical proteins and their annotated locations for NP_031894.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1), which is the major muscle isoform.
    Source sequence(s)
    AL645477, AL645848, AL645857, AL672146, AL731776, AL732449, AL806516, AL808024, AL833800, AL844151, BX000479, BX294443, CR352330, CR382328
    Consensus CDS
    CCDS41047.1
    UniProtKB/Swiss-Prot
    P11531, Q60703
    Related
    ENSMUSP00000109633.2, ENSMUST00000114000.8
    Conserved Domains (10) summary
    COG1340
    Location:17061981
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:16119
    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:346560
    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:30523081
    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:33043352
    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:29273033
    Spectrin; Spectrin repeat
    pfam09068
    Location:30823200
    EF-hand_2; EF hand
    pfam09069
    Location:32043295
    EF-hand_3; EF-hand
    pfam16769
    Location:34813664
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:562829
    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; ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    81858244..84248656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006527768.4XP_006527831.1  dystrophin isoform X2

    Conserved Domains (8) summary
    COG5069
    Location:2224
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:338552
    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:30443073
    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:32963344
    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 ...
    TIGR02168
    Location:11201930
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd16246
    Location:31103271
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:29193024
    Spectrin; Spectrin repeat
    cl02488
    Location:554821
    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_017318379.3XP_017173868.1  dystrophin isoform X10

    Conserved Domains (4) summary
    COG5069
    Location:12232
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:346560
    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; ...
    TIGR02168
    Location:11281938
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl02488
    Location:562782
    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_017318378.2XP_017173867.1  dystrophin isoform X9

    Conserved Domains (4) summary
    COG5069
    Location:12232
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:346560
    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; ...
    TIGR02168
    Location:11281938
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl02488
    Location:562782
    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_017318377.2XP_017173866.1  dystrophin isoform X8

    Conserved Domains (8) summary
    COG5069
    Location:12232
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:346560
    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:30523081
    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:33043352
    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 ...
    TIGR02168
    Location:11281938
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd16246
    Location:31183279
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:29273032
    Spectrin; Spectrin repeat
    cl02488
    Location:562829
    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_017318376.2XP_017173865.1  dystrophin isoform X7

    Conserved Domains (8) summary
    COG5069
    Location:12232
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:346560
    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:30523081
    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:33043352
    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 ...
    TIGR02168
    Location:11281938
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd16246
    Location:31183279
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:29273032
    Spectrin; Spectrin repeat
    cl02488
    Location:562829
    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; ...
  6. XM_036161805.1XP_036017698.1  dystrophin isoform X6

    Conserved Domains (9) summary
    cd00176
    Location:346560
    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:30523081
    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:33043352
    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 ...
    TIGR02168
    Location:11281938
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd16246
    Location:31183279
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:29273033
    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:562829
    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_017318374.2XP_017173863.1  dystrophin isoform X4

    Conserved Domains (8) summary
    COG5069
    Location:12232
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:346560
    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:30523081
    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:33043352
    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 ...
    TIGR02168
    Location:11281938
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd16246
    Location:31183279
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:29273032
    Spectrin; Spectrin repeat
    cl02488
    Location:562829
    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; ...
  8. XM_017318373.2XP_017173862.1  dystrophin isoform X3

    Conserved Domains (8) summary
    COG5069
    Location:12232
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:346560
    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:30523081
    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:33043352
    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 ...
    TIGR02168
    Location:11281938
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd16246
    Location:31183279
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:29273032
    Spectrin; Spectrin repeat
    cl02488
    Location:562829
    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_006527767.4XP_006527830.1  dystrophin isoform X1

    Conserved Domains (8) summary
    COG5069
    Location:12232
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:346560
    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:30523081
    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:33043352
    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 ...
    TIGR02168
    Location:11281938
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd16246
    Location:31183279
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:29273032
    Spectrin; Spectrin repeat
    cl02488
    Location:562829
    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_017318375.2XP_017173864.1  dystrophin isoform X5

    Conserved Domains (8) summary
    COG5069
    Location:12232
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:302516
    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:30083037
    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:32603308
    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 ...
    TIGR02168
    Location:10841894
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd16246
    Location:30743235
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:28832988
    Spectrin; Spectrin repeat
    cl02488
    Location:518785
    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_030251215.2XP_030107075.1  dystrophin isoform X11

    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:474579
    Spectrin; Spectrin repeat
  12. XM_006527773.3XP_006527836.1  dystrophin isoform X13

    Conserved Domains (5) summary
    COG1196
    Location:720890
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:24218
    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:344373
    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:596644
    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:410571
    EFh_DMD; EF-hand-like motif found in dystrophin
  13. XM_036161806.1XP_036017699.1  dystrophin isoform X12

    Conserved Domains (6) summary
    COG1196
    Location:720890
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:24218
    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:344373
    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:596644
    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:410571
    EFh_DMD; EF-hand-like motif found in dystrophin
    pfam00435
    Location:219325
    Spectrin; Spectrin repeat