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    DOK7 docking protein 7 [ Homo sapiens (human) ]

    Gene ID: 285489, updated on 3-Apr-2016
    Official Symbol
    DOK7provided by HGNC
    Official Full Name
    docking protein 7provided by HGNC
    Primary source
    HGNC:HGNC:26594
    See related
    Ensembl:ENSG00000175920 HPRD:08744; MIM:610285; Vega:OTTHUMG00000122087
    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
    CMS10; CMS1B; C4orf25
    Summary
    The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
    Orthologs
    Location:
    4p16.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (3463306..3501476)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3465033..3503203)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374354 Neighboring gene HGF activator Neighboring gene uncharacterized LOC105374355 Neighboring gene LDL receptor related protein associated protein 1 Neighboring gene uncharacterized LOC105374356

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ33718, FLJ39137, FLJ90556

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    insulin receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein Dok-7
    Names
    downstream of tyrosine kinase 7

    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_013072.2 RefSeqGene

      Range
      5001..43168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164673.1NP_001158145.1  protein Dok-7 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the central coding region that results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK091037, BM684814, DA205628
      Consensus CDS
      CCDS54717.1
      UniProtKB/Swiss-Prot
      Q18PE1
      Related
      ENSP00000423614, OTTHUMP00000216837, ENST00000507039, OTTHUMT00000242849
      Conserved Domains (2) summary
      cd14677
      Location:6107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
      cl17171
      Location:108174
      PH-like; Pleckstrin homology-like domain
    2. NM_001256896.1NP_001243825.1  protein Dok-7 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate internal promoter, differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) is significantly shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK091037, AK096456, BM684814, DA823926
      UniProtKB/Swiss-Prot
      Q18PE1
      UniProtKB/TrEMBL
      Q8N1M3
    3. NM_001301071.1NP_001288000.1  protein Dok-7 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains additional exons at the 3' end compared to variant 1. The resulting isoform (4) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK075037, AL590235, BC141852, DA205628
      UniProtKB/Swiss-Prot
      Q18PE1
      Conserved Domains (2) summary
      cd13165
      Location:108208
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
    4. NM_173660.4NP_775931.3  protein Dok-7 isoform 1

      See identical proteins and their annotated locations for NP_775931.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer and predominant variant, and encodes the longer isoform (1).
      Source sequence(s)
      AK091037, BC141852, BM684814, DA205628
      Consensus CDS
      CCDS3370.2
      UniProtKB/Swiss-Prot
      Q18PE1
      Related
      ENSP00000344432, OTTHUMP00000194785, ENST00000340083, OTTHUMT00000313538
      Conserved Domains (2) summary
      cd13165
      Location:108208
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

      Range
      3463306..3501476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513436.1XP_011511738.1  

      Conserved Domains (2) summary
      cd13165
      Location:108208
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
    2. XM_011513437.1XP_011511739.1  

      Conserved Domains (1) summary
      cl17171
      Location:3670
      PH-like; Pleckstrin homology-like domain
    3. XM_011513435.1XP_011511737.1  

      Conserved Domains (2) summary
      cd13165
      Location:108208
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      3462601..3501153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)