Protein Dok7

URN	urn:agi-llid:285489
Total Entities	0
Connectivity	27
Name	Dok7
Description	docking protein 7
Notes	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]

GO Molecular Function	lipid binding
	insulin receptor binding
	protein kinase binding
	phospholipid binding
	phosphatidylinositol binding

GO Biological Process	positive regulation of protein phosphorylation
	positive regulation of protein tyrosine kinase activity
	receptor clustering
	neuromuscular junction development

Pathway	acetylcholine signaling pathway via nicotinic acetylcholine receptor

Group	positive regulation of protein phosphorylation
	positive regulation of protein tyrosine kinase activity
	receptor clustering
	neuromuscular junction development
	lipid binding
	insulin receptor binding
	protein kinase binding
	phospholipid binding
	phosphatidylinositol binding
	cell junction
	membrane
	synapse
	plasma membrane
	neuromuscular junction

MedScan ID	285489

Hugo ID	26594

Human chromosome position	4p16.3

Alias	CMS1B
	C4orf25
	RP11-529E10.4
	protein Dok-7
	downstream of tyrosine kinase 7
	Oit5
	Dok-7
	EF-12
	AW049091
	A930013K19Rik
	oncoprotein induced transcript 5
	RGD1566416
	oncoprotein induced transcript V
	MGC107606
	LOC305448
	FLJ90556
	FLJ39137
	FLJ33718
	OTTMUSP00000026162
	docking protein 7
	EF XII
	A930013K19

Swiss-Prot ID	DOK7_MOUSE
	DOK7_HUMAN

Mouse chromosome position	5

Rat chromosome position	14q21

Homologene ID	18210

MGI ID	3584043

RGD ID	1566416