DOK7
entrez
285489
canonical
uniprot
Q18PE1
canonical
ensembl
ENSG00000175920
resolver
ensp
ENSP00000344432
resolver
ensp
ENSP00000423614
resolver
ensp
ENSP00000492194
resolver
ensp
ENSP00000495701
resolver
ensp
ENSP00000683535
resolver
ensp
ENSP00000683539
resolver
enst
ENST00000515886
resolver
enst
ENST00000643608
resolver
genesymbol
DOK7
resolver
genesymbol_syn
C4orf25
resolver
hgnc
HGNC:26594
resolver
uniprot
A0A1W2PRA3
resolver
uniprot
A0A2R8Y701
resolver
uniprot
A2A499
resolver
uniprot
A2RRD4
resolver
uniprot
E9PB56
resolver
uniprot
Q6P6A6
resolver
uniprot
Q86XG5
resolver
uniprot
Q8N1M3
resolver
uniprot
Q8N2J3
resolver
uniprot
Q8NBC1
resolver
uniprot_entry
A0A1W2PRA3_HUMAN
resolver
uniprot_entry
A0A2R8Y701_HUMAN
resolver
uniprot_entry
DOK7_HUMAN
resolver
uniprot_entry
Q8N1M3_HUMAN
resolver
uniprot_sec
A2A499
resolver
uniprot_sec
A2RRD4
resolver
uniprot_sec
E9PB56
resolver
uniprot_sec
Q6P6A6
resolver
uniprot_sec
Q86XG5
resolver
uniprot_sec
Q8N2J3
resolver
uniprot_sec
Q8NBC1
resolver
amino_acid_sequence
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
uniprot
proteins
disease_involvement
DISEASE: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS10 is an autosomal recessive, post-synaptic form characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. {ECO:0000269|PubMed:16917026, ECO:0000269|PubMed:17439981, ECO:0000269|PubMed:20012313, ECO:0000269|PubMed:20603078, ECO:0000269|PubMed:22661499}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Fetal akinesia deformation sequence 3 (FADS3) [MIM:618389]: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS3 inheritance is autosomal recessive. {ECO:0000269|PubMed:19261599}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
53097
uniprot
proteins
mutagenesis
MUTAGEN 30; /note="S->W: Reduced stimulation of MUSK autophosphorylation."; /evidence="ECO:0000269|PubMed:20603078"; MUTAGEN 32; /note="V->A: Reduced stimulation of MUSK autophosphorylation."; /evidence="ECO:0000269|PubMed:20603078"; MUTAGEN 158; /note="R->Q: Reduced stimulation of MUSK autophosphorylation; when associated in cis with A-174."; /evidence="ECO:0000269|PubMed:20603078"; MUTAGEN 174; /note="R->A: Reduced stimulation of MUSK autophosphorylation; when associated in cis with Q-158."; /evidence="ECO:0000269|PubMed:20603078
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16794080
uniprot
proteins
pubmed
16917026
uniprot
proteins
pubmed
17439981
uniprot
proteins
pubmed
19261599
uniprot
proteins
pubmed
20012313
uniprot
proteins
pubmed
20603078
uniprot
proteins
pubmed
22661499
uniprot
proteins
sequence_length
504
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Synapse {ECO:0000250}. Note=Accumulates at neuromuscular junctions. {ECO:0000250}.
uniprot
proteins