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FLASH GENE

Symbol

DOK7

contributors: mct - updated : 17-08-2009

HGNC name	docking protein 7
HGNC id	26594

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS1B congenital myasthenic syndrome, 1B MPTLT5 multiple pterygium syndrome, lethal type 5
Location	4p16.2      Physical location : 3.465.032 - 3.496.208
Synonym name	downstream of tyrosine kinase 7
	chromosome 4 open reading frame 25
Synonym symbol(s)	Dok-7, C4orf25, FLJ33718, FLJ39137, FLJ90556

DNA

TYPE	functioning gene
STRUCTURE	31.18 kb     7 Exon(s)

regulatory sequence	Binding site   transcription factor
text structure	two Sp1 consensus sequences within the 5prime-flanking region are necessary for expression of the DOK7 gene in muscle cells, in the mouse

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_173660 7 - 2566 NP_775931 - 504 - 2006 16794080

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth tongue     highly   pancreas exocrine       moderately Endocrine neuroendocrine pituitary     predominantly Lymphoid/Immune spleen       highly Nervous brain       moderately Reproductive female system ovary     highly   female system breast mammary gland   moderately   female system uterus     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a pleckstrin homology (PH) responsible of and phosphotyrosine binding (PTB) domains in the N-terminal moiety, both of which are indispensable for MUSK activation in myotubes
	a Src homology 2 (SH2) domain target motifs in the C-terminal region, and a chromosome region maintenance 1-dependent nuclear export signal (NES) essential for regulating the interaction with MUSK in myotubes

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
text	concentrated at postsynaptic sites of the neuromuscular junction

basic FUNCTION	being essential for MUSK activation in cultured myotubes
	MUSK-interacting cytoplasmic protein, playing an essential role for neuromuscular synaptogenesis through its interaction with MUSK
	essential for maintaining not only the size but also the structural integrity of the end plate
	MUSK-interacting protein, essential for neuromuscular synaptogenesis, although the mechanisms by which DOK7 regulates MUSK activity and promotes synapse formation have been unclear
	positively regulates neuromuscular synaptogenesis by controlling MUSK activity, its distribution, and its responsiveness to neural agrin
	recruited by MUSK, and directly stimulates MUSK kinase activity, through its N-terminal region (

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , nervous system

text	neuromuscular synaptogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	cytoplasmic activator of muscle-specific receptor-tyrosine kinase (MUSK)
	directly interacts with the cytoplasmic portion of MUSK and activates the receptor tyrosine kinase, and neural agrin requires DOK7 to activate MUSK
	interaction with CRK, and CRKL (critical role for CRK and CRKL downstream from DOK7 in presynaptic and postsynaptic differentiation)(
	cytoplasmic activator of the muscle-specific receptor tyrosine kinase MUSK

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMS1B , MPTLT5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS