| Gene Symbol |
DOK7
|
| Entrez Gene |
285489
|
| Alt Symbol |
C4orf25, CMS1B
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
docking protein 7
|
| Other Description |
downstream of tyrosine kinase 7|protein Dok-7
|
| Swissprots |
Q86XG5 Q8NBC1 Q6P6A6 A2A499 A2RRD4 Q18PE1 Q8N2J3 E9PB56
|
| Accessions |
EAW82463 Q18PE1 AB220918 BAE96739 AK075037 BAC11367 AK091037 BAC03572 AK096456 BAC04795 BC043568 AAH43568 BC062369 AAH62369 BC131544 AAI31545 BC141852 AAI41853 BM684814 DA205628 DA823926 XM_011513435 XP_011511737 XM_011513436 XP_011511738 XM_011513437 XP_011511739 NM_001164673 NP_001158145 NM_001256896 NP_001243825 NM_001301071 NP_001288000 NM_173660 NP_775931
|
| 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:0000269|PubMed:20603078}.
|
| Subcellular Location |
Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Accumulates at neuromuscular junctions. {ECO:0000250}.
|
| 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:0000269|PubMed:16794080}.
|