InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DOK7

Summary

InnateDB Protein

IDBP-8180.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DOK7

Protein Name

docking protein 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000344432

InnateDB Gene

IDBG-8178 (DOK7)

Protein Structure

UniProt Annotation

Function

Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. {ECO:0000269PubMed:20603078}.

Subcellular Localization

Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Accumulates at neuromuscular junctions. {ECO:0000250}.

Disease Associations

Myasthenia, limb-girdle, familial (LGM) [MIM:254300]: A congenital myasthenic syndrome characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. {ECO:0000269PubMed:16917026, ECO:0000269PubMed:17439981, ECO:0000269PubMed:20012313, ECO:0000269PubMed:22661499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level). {ECO:0000269PubMed:16794080}.

Comments

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