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    dmd dystrophin [ Danio rerio (zebrafish) ]

    Gene ID: 83773, updated on 1-Aug-2018

    Summary

    Official Symbol
    dmdprovided by ZNC
    Official Full Name
    dystrophinprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-010426-1
    See related
    Ensembl:ENSDARG00000008487 Vega:OTTDARG00000031909
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Cyprinidae; Danio
    Also known as
    Dp71; cb664; zfDYS; im:6911785; zgc:110165
    Orthologs

    Genomic context

    See dmd in Genome Data Viewer
    Location:
    chromosome: 1
    Exon count:
    81
    Annotation release Status Assembly Chr Location
    106 current GRCz11 (GCF_000002035.6) 1 NC_007112.7 (10824343..11075439, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 1 NC_007112.6 (10140240..10391294, complement)

    Chromosome 1 - NC_007112.7Genomic Context describing neighboring genes Neighboring gene si:ch73-222h13.1 Neighboring gene cytokine receptor family member B15 Neighboring gene kinetochore scaffold 1 Neighboring gene kinetochore localized astrin (SPAG5) binding protein

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    dystroglycan binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    muscle attachment IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    muscle attachment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somatic muscle development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somite development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    striated muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    dystrophin-associated glycoprotein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dystrophin
    Names
    Duchenne muscular dystrophy
    dystrophin isoform Dp116
    sap
    sapje
    sapje-like

    NCBI Reference Sequences (RefSeq)

    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_001326687.1NP_001313616.1  dystrophin isoform 1

      Status: PROVISIONAL

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BX004756, BX323020, BX323090
      Related
      ENSDARP00000139822.2, OTTDARP00000035146, ENSDART00000170290.2, OTTDART00000044458
      Conserved Domains (8) summary
      smart00150
      Location:14861586
      SPEC; Spectrin repeats
      cd00014
      Location:152257
      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:359577
      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:29732995
      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:32183266
      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:29973114
      EF-hand_2; EF hand
      pfam09069
      Location:31183209
      EF-hand_3; EF-hand
      cl02488
      Location:18231973
      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_131785.2NP_571860.2  dystrophin isoform 2

      Status: PROVISIONAL

      Description
      Transcript Variant: This variant (2) encodes isoform 2.
      Source sequence(s)
      BX323090
      UniProtKB/TrEMBL
      F1QDK4
      Related
      ENSDARP00000003044.7, OTTDARP00000035150, ENSDART00000009886.9, OTTDART00000044464

    RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007112.7 Reference GRCz11 Primary Assembly

      Range
      10824343..11075439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021475868.1XP_021331543.1  dystrophin isoform X6

      Conserved Domains (7) summary
      COG5069
      Location:29254
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:359577
      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:29732995
      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:32183266
      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:30323193
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:18231973
      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; ...
      cl25732
      Location:11441760
      SMC_N; RecF/RecN/SMC N terminal domain
    2. XM_017355864.2XP_017211353.2  dystrophin isoform X5

      Conserved Domains (7) summary
      COG5069
      Location:29254
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:359577
      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:29732995
      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:32183266
      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:30323193
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:18231973
      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; ...
      cl25732
      Location:11441760
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_021475866.1XP_021331541.1  dystrophin isoform X2

      Conserved Domains (7) summary
      COG5069
      Location:29254
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:359577
      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:29732995
      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:32183266
      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:30323193
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:18231973
      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; ...
      cl25732
      Location:11441760
      SMC_N; RecF/RecN/SMC N terminal domain
    4. XM_021475865.1XP_021331540.1  dystrophin isoform X1

      Conserved Domains (7) summary
      COG5069
      Location:29254
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:359577
      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:29732995
      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:32183266
      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:30323193
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:18231973
      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; ...
      cl25732
      Location:11441760
      SMC_N; RecF/RecN/SMC N terminal domain
    5. XM_021475867.1XP_021331542.1  dystrophin isoform X3

      Conserved Domains (7) summary
      COG5069
      Location:29254
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:359577
      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:29732995
      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:32183266
      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:30323193
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:18231973
      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; ...
      cl25732
      Location:11441760
      SMC_N; RecF/RecN/SMC N terminal domain
    6. XM_017355863.2XP_017211352.2  dystrophin isoform X4

      Conserved Domains (7) summary
      COG5069
      Location:29254
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:359577
      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:29732995
      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:32183266
      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:30323193
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:18231973
      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; ...
      cl25732
      Location:11441760
      SMC_N; RecF/RecN/SMC N terminal domain
    7. XM_021475869.1XP_021331544.1  dystrophin isoform X7

      Conserved Domains (7) summary
      cd00176
      Location:219437
      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:28332855
      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:30783126
      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 ...
      pfam00307
      Location:13117
      CH; Calponin homology (CH) domain
      cd16246
      Location:28923053
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:16831833
      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; ...
      cl25732
      Location:10041620
      SMC_N; RecF/RecN/SMC N terminal domain
    8. XM_009306076.3XP_009304351.1  dystrophin isoform X8

      Conserved Domains (4) summary
      cl14654
      Location:420604
      V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
      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 ...
      pfam09068
      Location:22139
      EF-hand_2; EF hand
      pfam09069
      Location:143234
      EF-hand_3; EF-hand
    9. XM_021475870.1XP_021331545.1  dystrophin isoform X9

      Related
      ENSDARP00000110295.2, ENSDART00000126518.3
      Conserved Domains (3) 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 ...
      cd15901
      Location:5795
      EFh_DMD_DYTN_DTN; EF-hand-like motif [structural motif]
      cl07621
      Location:57218
      EFh_DMD_DYTN_DTN; EF-hand-like motif found in the dystrophin/dystrobrevin/dystrotelin family

    RNA

    1. XR_001799156.2 RNA Sequence

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394463.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      9763..98820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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