Version 5.4
Homo sapiens Gene: DOK7
Summary
InnateDB Gene IDBG-8178.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DOK7
Gene Name docking protein 7
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000175920
Encoded Proteins
IDBP-8180
docking protein 7
IDBP-481241
docking protein 7
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:3463311-3501473
Strand Forward strand
Band p16.3
Transcripts
ENST00000340083 ENSP00000344432
ENST00000511267
ENST00000503688
ENST00000507039 ENSP00000423614
ENST00000515886
ENST00000513995
ENST00000512714
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005158 insulin receptor binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0035091 phosphatidylinositol binding
Biological Process
GO:0001934 positive regulation of protein phosphorylation
GO:0007528 neuromuscular junction development
GO:0043113 receptor clustering
GO:0061098 positive regulation of protein tyrosine kinase activity
Cellular Component
GO:0005886 plasma membrane
GO:0030054 cell junction
GO:0031594 neuromuscular junction
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000044716
View Gene Order
ENSBTAG00000009742
Not yet available
Cross-References
SwissProt Q18PE1
TrEMBL
UniProt Splice Variant
Entrez Gene 285489
UniGene Hs.122110 Hs.701584
RefSeq NM_001164673 NM_173660 XM_006713876
HUGO HGNC:26594
OMIM 610285
CCDS CCDS3370 CCDS54717
HPRD
IMGT
EMBL AB220918 AK075037 AK091037 AL590235 BC043568 BC062369 BC131544 BC141852
GenPept AAH43568 AAH62369 AAI31545 AAI41853 BAC03572 BAC11367 BAE96739
RNA Seq Atlas 102724043 285489

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca