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DOK7 docking protein 7 [ Homo sapiens (human) ]

Gene ID: 285489, updated on 10-Apr-2015
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
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
See DOK7 in MapViewer
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 low density lipoprotein receptor-related protein associated protein 1 Neighboring gene uncharacterized LOC105374356

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Myasthenia, limb-girdle, familial Compare labs
Pena-Shokeir syndrome type I
MedGen: C1276035 OMIM: 208150 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
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
 
phosphatidylinositol binding IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
receptor clustering IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein Dok-7
Names
protein Dok-7
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..36177
    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
    cd00821
    Location:8100
    PH; Pleckstrin homology (PH) domain
    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
    cd00821
    Location:8100
    PH; Pleckstrin homology (PH) domain
    cd13165
    Location:108208
    PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
  4. NM_173660.4NP_775931.3  protein Dok-7 isoform 1

    See proteins identical to 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
    cd00821
    Location:8100
    PH; Pleckstrin homology (PH) domain
    cd13165
    Location:108208
    PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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)