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DTNA dystrobrevin alpha [ Homo sapiens (human) ]

Gene ID: 1837, updated on 25-Nov-2021

Summary

Official Symbol
DTNAprovided by HGNC
Official Full Name
dystrobrevin alphaprovided by HGNC
Primary source
HGNC:HGNC:3057
See related
Ensembl:ENSG00000134769 MIM:601239
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
DTN; DRP3; DTN-A; LVNC1; D18S892E
Summary
The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 27.5), heart (RPKM 10.7) and 10 other tissues See more
Orthologs
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Genomic context

See DTNA in Genome Data Viewer
Location:
18q12.1
Exon count:
30
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (34493298..34891844)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (32073276..32471808)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ASXL transcriptional regulator 3 Neighboring gene uncharacterized LOC107985157 Neighboring gene nucleolar protein 4 Neighboring gene ribosomal protein L10a pseudogene 13 Neighboring gene uncharacterized LOC105372061 Neighboring gene Sharpr-MPRA regulatory region 7107 Neighboring gene microtubule associated protein RP/EB family member 2

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of dystrobrevin, alpha (DTNA) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ96209

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein 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 chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in neuromuscular synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in striated muscle contraction TAS
Traceable Author Statement
more info
PubMed 
involved_in synaptic signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
dystrobrevin alpha
Names
dystrophin-related protein 3

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_009201.1 RefSeqGene

    Range
    5023..403555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_756

mRNA and Protein(s)

  1. NM_001128175.2NP_001121647.1  dystrobrevin alpha isoform 9

    See identical proteins and their annotated locations for NP_001121647.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks an internal coding exon and multiple exons from the 3' end, and contains an alternate 3' exon, compared to variant 1. The resulting isoform (9) lacks an internal segment and has a much shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AI368045, BC005300, DA197970
    Consensus CDS
    CCDS56060.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000451516.2, ENST00000554864.7
    Conserved Domains (2) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  2. NM_001198938.2NP_001185867.1  dystrobrevin alpha isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the CDS and 3' UTR compared to variant 1. The resulting isoform (10) is shorter; it lacks two internal segments and has a longer and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB209102, AK308410, BC005300, BC033969, BX103860, CF457303, DA197970
    Consensus CDS
    CCDS59312.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000470152.1, ENST00000598334.5
    Conserved Domains (4) summary
    COG0419
    Location:365494
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:408598
    MS_channel; Mechanosensitive ion channel
  3. NM_001198939.2NP_001185868.1  dystrobrevin alpha isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the CDS compared to variant 1. The resulting isoform (11) lacks two internal segments but has an extra segment in a downstream region, compared to isoform 1.
    Source sequence(s)
    AC068506, AL833285, BC005300, DA197970
    Consensus CDS
    CCDS56061.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000382072.5, ENST00000399121.9
    Conserved Domains (4) summary
    cd02334
    Location:241289
    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 ...
    pfam09068
    Location:16140
    EF-hand_2; EF hand
    pfam09069
    Location:144232
    EF-hand_3; EF-hand
    pfam11068
    Location:414502
    YlqD; YlqD protein
  4. NM_001198940.2NP_001185869.1  dystrobrevin alpha isoform 12

    See identical proteins and their annotated locations for NP_001185869.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) differs in the CDS compared to variant 1. The resulting isoform (12) lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AB209102, AC068506, DA197970
    Consensus CDS
    CCDS59311.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000473078.1, ENST00000595022.5
    Conserved Domains (4) summary
    COG0419
    Location:365494
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:408598
    MS_channel; Mechanosensitive ion channel
  5. NM_001198941.2NP_001185870.1  dystrobrevin alpha isoform 13

    See identical proteins and their annotated locations for NP_001185870.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) differs in the CDS, lacks multiple exons from the 3' UTR and contains an alternate 3' exon compared to variant 1. The resulting isoform (13) lacks two internal segments and has a much shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC068506, AK291156
    Consensus CDS
    CCDS59310.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000473119.1, ENST00000597599.5
    Conserved Domains (3) summary
    COG0419
    Location:365500
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  6. NM_001198942.1NP_001185871.1  dystrobrevin alpha isoform 14

    See identical proteins and their annotated locations for NP_001185871.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) lacks multiple exons from the 5' end, contains an alternate 5' exon, and differs in the CDS compared to variant 1. The resulting isoform (14) has a much shorter N-terminus, lacks an internal segment in one region and contains an extra segment in a different region, compared to isoform 1.
    Source sequence(s)
    AC068506, AK295732, DN991561
    Consensus CDS
    CCDS56062.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000269192.7, ENST00000269192.11
    Conserved Domains (1) summary
    pfam13874
    Location:179262
    Nup54; Nucleoporin complex subunit 54
  7. NM_001198943.1NP_001185872.1  dystrobrevin alpha isoform 15

    See identical proteins and their annotated locations for NP_001185872.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) lacks multiple exons from the 5' end, contains an alternate 5' UTR, and differs in the CDS compared to variant 1. The resulting isoform (15) has a much shorter N-terminus and lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AC068506, AK296450
    UniProtKB/TrEMBL
    B7Z3X3
    Related
    ENSP00000470247.1, ENST00000601125.5
    Conserved Domains (2) summary
    cd02334
    Location:139
    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 ...
    pfam13874
    Location:160243
    Nup54; Nucleoporin complex subunit 54
  8. NM_001198944.1NP_001185873.1  dystrobrevin alpha isoform 16

    See identical proteins and their annotated locations for NP_001185873.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) lacks multiple exons from the 5' end, contains an alternate 5' exon, and differs in the CDS compared to variant 1. The resulting isoform (16) has a much shorter N-terminus and lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AC068506, AK295789, DN991561
    Consensus CDS
    CCDS56063.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000452255.2, ENST00000556414.7
    Conserved Domains (1) summary
    pfam13874
    Location:122205
    Nup54; Nucleoporin complex subunit 54
  9. NM_001198945.2NP_001185874.1  dystrobrevin alpha isoform 17

    See identical proteins and their annotated locations for NP_001185874.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) lacks multiple exons in the middle region and from the 3' end, and contains an alternate 3' exon compared to variant 1. The resulting isoform (17) lacks a large internal segment and has a shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AC068506, AK294746, R45531
    Consensus CDS
    CCDS59313.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000469121.1, ENST00000596745.5
    Conserved Domains (2) summary
    cd16249
    Location:54202
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl28419
    Location:226296
    SerS; Seryl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
  10. NM_001386753.1NP_001373682.1  dystrobrevin alpha isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Conserved Domains (4) summary
    COG0419
    Location:365494
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:408598
    MS_channel; Mechanosensitive ion channel
  11. NM_001386754.1NP_001373683.1  dystrobrevin alpha isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Conserved Domains (3) summary
    PRK00286
    Location:369541
    xseA; exodeoxyribonuclease VII large subunit; Reviewed
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  12. NM_001386755.1NP_001373684.1  dystrobrevin alpha isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Related
    ENSP00000507106.1, ENST00000684266.1
    Conserved Domains (3) summary
    PRK00286
    Location:369541
    xseA; exodeoxyribonuclease VII large subunit; Reviewed
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  13. NM_001386756.1NP_001373685.1  dystrobrevin alpha isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC013290, AC022601, AC068506
    Conserved Domains (3) summary
    PRK00286
    Location:369541
    xseA; exodeoxyribonuclease VII large subunit; Reviewed
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  14. NM_001386757.1NP_001373686.1  dystrobrevin alpha isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC013290, AC022601, AC068506
    Related
    ENSP00000506757.1, ENST00000684377.1
    Conserved Domains (3) summary
    PRK00286
    Location:369541
    xseA; exodeoxyribonuclease VII large subunit; Reviewed
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  15. NM_001386758.1NP_001373687.1  dystrobrevin alpha isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Conserved Domains (3) summary
    PRK00286
    Location:369541
    xseA; exodeoxyribonuclease VII large subunit; Reviewed
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  16. NM_001386759.1NP_001373688.1  dystrobrevin alpha isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Related
    ENSP00000505718.1, ENST00000680822.1
    Conserved Domains (3) summary
    PRK00286
    Location:369541
    xseA; exodeoxyribonuclease VII large subunit; Reviewed
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  17. NM_001386760.1NP_001373689.1  dystrobrevin alpha isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Conserved Domains (3) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:437627
    MS_channel; Mechanosensitive ion channel
  18. NM_001386761.1NP_001373690.1  dystrobrevin alpha isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Related
    ENSP00000507300.1, ENST00000684359.1
    Conserved Domains (4) summary
    COG0419
    Location:368497
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:411601
    MS_channel; Mechanosensitive ion channel
  19. NM_001386762.1NP_001373691.1  dystrobrevin alpha isoform 20

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Conserved Domains (3) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:410600
    MS_channel; Mechanosensitive ion channel
  20. NM_001386763.1NP_001373692.1  dystrobrevin alpha isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Related
    ENSP00000283365.10, ENST00000283365.14
    Conserved Domains (4) summary
    COG0419
    Location:365494
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:408598
    MS_channel; Mechanosensitive ion channel
  21. NM_001386764.1NP_001373693.1  dystrobrevin alpha isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Conserved Domains (4) summary
    COG0419
    Location:365494
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:408598
    MS_channel; Mechanosensitive ion channel
  22. NM_001386765.1NP_001373694.1  dystrobrevin alpha isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC013290, AC022601, AC068506
    Related
    ENSP00000507911.1, ENST00000683705.1
    Conserved Domains (4) summary
    COG0419
    Location:365494
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:408598
    MS_channel; Mechanosensitive ion channel
  23. NM_001386766.1NP_001373695.1  dystrobrevin alpha isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Conserved Domains (4) summary
    COG0419
    Location:365494
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:408598
    MS_channel; Mechanosensitive ion channel
  24. NM_001386767.1NP_001373696.1  dystrobrevin alpha isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Related
    ENSP00000506495.1, ENST00000681241.1
    Conserved Domains (4) summary
    COG0419
    Location:365494
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:408598
    MS_channel; Mechanosensitive ion channel
  25. NM_001386768.1NP_001373697.1  dystrobrevin alpha isoform 21

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Related
    ENSP00000505722.1, ENST00000681470.1
    Conserved Domains (3) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:407597
    MS_channel; Mechanosensitive ion channel
  26. NM_001386769.1NP_001373698.1  dystrobrevin alpha isoform 21

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Conserved Domains (3) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:407597
    MS_channel; Mechanosensitive ion channel
  27. NM_001386770.1NP_001373699.1  dystrobrevin alpha isoform 22

    Status: REVIEWED

    Source sequence(s)
    AC013290, AC022601, AC068506
    Conserved Domains (3) summary
    COG0419
    Location:395530
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  28. NM_001386771.1NP_001373700.1  dystrobrevin alpha isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Related
    ENSP00000508159.1, ENST00000682483.1
    Conserved Domains (3) summary
    COG0419
    Location:365500
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  29. NM_001386772.1NP_001373701.1  dystrobrevin alpha isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC013290, AC022601, AC068506
    Conserved Domains (3) summary
    COG0419
    Location:365500
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  30. NM_001386773.1NP_001373702.1  dystrobrevin alpha isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Conserved Domains (3) summary
    PRK12704
    Location:406499
    PRK12704; phosphodiesterase; Provisional
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  31. NM_001386774.1NP_001373703.1  dystrobrevin alpha isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Conserved Domains (3) summary
    PRK12704
    Location:406499
    PRK12704; phosphodiesterase; Provisional
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  32. NM_001386775.1NP_001373704.1  dystrobrevin alpha isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Conserved Domains (2) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  33. NM_001386776.1NP_001373705.1  dystrobrevin alpha isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506, AC103768
    Related
    ENSP00000506928.1, ENST00000684734.1
    Conserved Domains (2) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  34. NM_001386777.1NP_001373706.1  dystrobrevin alpha isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Conserved Domains (2) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  35. NM_001386788.1NP_001373717.1  dystrobrevin alpha isoform 24

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Related
    ENSP00000506659.1, ENST00000679796.1
    Conserved Domains (4) summary
    COG0419
    Location:452581
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:495685
    MS_channel; Mechanosensitive ion channel
  36. NM_001386795.1NP_001373724.1  dystrobrevin alpha isoform 24

    Status: REVIEWED

    Source sequence(s)
    AC022601, AC068506
    Related
    ENSP00000405819.2, ENST00000444659.6
    Conserved Domains (4) summary
    COG0419
    Location:452581
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:495685
    MS_channel; Mechanosensitive ion channel
  37. NM_001390.5NP_001381.2  dystrobrevin alpha isoform 1

    See identical proteins and their annotated locations for NP_001381.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as DTN1, encodes the longest isoform (1). Its 5' UTR has not been determined.
    Source sequence(s)
    AB209102, AL833285, BC005300, BC033969, BX103860, U26742, U46745
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000382064.3, ENST00000399113.7
    Conserved Domains (4) summary
    cd02334
    Location:241289
    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 ...
    pfam09068
    Location:16140
    EF-hand_2; EF hand
    pfam09069
    Location:144232
    EF-hand_3; EF-hand
    pfam13874
    Location:470553
    Nup54; Nucleoporin complex subunit 54
  38. NM_001391.5NP_001382.2  dystrobrevin alpha isoform 3

    See identical proteins and their annotated locations for NP_001382.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as DTN2, lacks multiple exons from the 3' end and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC068506, AI670964, BC005300, R45531, U26742, U26743, U46745
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Conserved Domains (4) summary
    cd02334
    Location:241289
    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 ...
    pfam09068
    Location:16140
    EF-hand_2; EF hand
    pfam09069
    Location:144232
    EF-hand_3; EF-hand
    pfam11068
    Location:474561
    YlqD; YlqD protein
  39. NM_001392.5NP_001383.2  dystrobrevin alpha isoform 7

    See identical proteins and their annotated locations for NP_001383.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), also known as DTN3 or delta transcript, lacks multiple exons from the 3' end and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (7) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC005300, DA073612, U26742
    Consensus CDS
    CCDS42426.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000322519.5, ENST00000315456.10
    Conserved Domains (2) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
  40. NM_032975.4NP_116757.2  dystrobrevin alpha isoform 2

    See identical proteins and their annotated locations for NP_116757.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as alpha transcript, lacks two consecutive in-frame coding exons, compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AB209102, AL833285, BC033969, BX103860, DA073612, U26742
    Consensus CDS
    CCDS45848.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000507995.1, ENST00000683379.1
    Conserved Domains (4) summary
    COG0419
    Location:368497
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:411601
    MS_channel; Mechanosensitive ion channel
  41. NM_032978.7NP_116760.2  dystrobrevin alpha isoform 4

    See identical proteins and their annotated locations for NP_116760.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), also known as beta transcript, lacks an internal coding exon and multiple exons from the 3' end, and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (4) with a distinct C-terminus and missing an internal segment, compared to isoform 1.
    Source sequence(s)
    AC068506, AI670964, AK291156, R45531, U26744, U46745
    Consensus CDS
    CCDS11908.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    UniProtKB/TrEMBL
    A0A024RC32
    Related
    ENSP00000336682.4, ENST00000348997.9
    Conserved Domains (3) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl25732
    Location:422557
    SMC_N; RecF/RecN/SMC N terminal domain
  42. NM_032979.5NP_116761.2  dystrobrevin alpha isoform 5

    See identical proteins and their annotated locations for NP_116761.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), also known as gamma transcript, lacks two consecutive in-frame coding exons and multiple exons from the 3' end, and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (5) with a distinct C-terminus and missing an internal segment, compared to isoform 1.
    Source sequence(s)
    AC068506, AI670964, DA073612, R45531, U26742, U26743
    Consensus CDS
    CCDS59309.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000472031.1, ENST00000598774.6
    Conserved Domains (3) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl25732
    Location:368503
    SMC_N; RecF/RecN/SMC N terminal domain
  43. NM_032980.4NP_116762.2  dystrobrevin alpha isoform 6

    See identical proteins and their annotated locations for NP_116762.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), also known as epsilon transcript, lacks two in-frame coding exons and multiple exons from the 5' end, and contains an alternate 5' exon, compared to transcript variant 1. This results in an isoform (6) with a much shorter N-terminus and missing two internal segments, compared to isoform 1.
    Source sequence(s)
    AB209102, AL833285, BC033969, BX103860, DC327958, U46746
    Consensus CDS
    CCDS11909.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000467720.1, ENST00000591182.5
    Conserved Domains (1) summary
    pfam13874
    Location:118201
    Nup54; Nucleoporin complex subunit 54
  44. NM_032981.5NP_116763.1  dystrobrevin alpha isoform 8

    See identical proteins and their annotated locations for NP_116763.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), also known as zeta transcript, lacks multiple exons from the 5' and 3' ends as well as few internal exons, and contains alternate 5' and 3' exons, compared to transcript variant 1. This results in a shorter isoform (8) with distinct N- and C-termini and lacking two internal segments, compared to isoform 1.
    Source sequence(s)
    AC068506, AI670964, DC327958, R45531, U26743
    Consensus CDS
    CCDS59314.1
    UniProtKB/Swiss-Prot
    Q9Y4J8
    Related
    ENSP00000471783.1, ENST00000597674.5
    Conserved Domains (1) summary
    cl28419
    Location:98168
    SerS; Seryl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

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_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    34493298..34891844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025576.2XP_016881065.1  dystrobrevin alpha isoform X2

  2. XM_017025586.2XP_016881075.1  dystrobrevin alpha isoform X8

    Conserved Domains (3) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl39057
    Location:410600
    MS_channel; Mechanosensitive ion channel
  3. XM_024451096.1XP_024306864.1  dystrobrevin alpha isoform X4

    Conserved Domains (4) summary
    cd02334
    Location:241289
    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 ...
    cd16249
    Location:54214
    EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
    cl27626
    Location:407597
    MS_channel; Mechanosensitive ion channel
    cl28419
    Location:415485
    SerS; Seryl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
  4. XM_017025575.2XP_016881064.1  dystrobrevin alpha isoform X1

  5. XM_017025599.2XP_016881088.1  dystrobrevin alpha isoform X14

RNA

  1. XR_001753154.1 RNA Sequence

  2. XR_001753156.1 RNA Sequence

  3. XR_001753159.1 RNA Sequence

  4. XR_001753161.1 RNA Sequence

  5. XR_001753152.1 RNA Sequence

  6. XR_001753153.1 RNA Sequence

  7. XR_001753155.1 RNA Sequence

  8. XR_001753157.1 RNA Sequence

  9. XR_001753160.1 RNA Sequence

  10. XR_001753158.1 RNA Sequence

  11. XR_001753163.1 RNA Sequence

  12. XR_002958166.1 RNA Sequence

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