RAPSN
entrez
5913
canonical
uniprot
Q13702
canonical
ensembl
ENSG00000165917
resolver
ensp
ENSP00000298853
resolver
ensp
ENSP00000298854
resolver
ensp
ENSP00000431732
resolver
ensp
ENSP00000435551
resolver
ensp
ENSP00000567262
resolver
ensp
ENSP00000567263
resolver
ensp
ENSP00000619362
resolver
ensp
ENSP00000619364
resolver
ensp
ENSP00000688895
resolver
ensp
ENSP00000688896
resolver
ensp
ENSP00000688898
resolver
ensp
ENSP00000784921
resolver
enst
ENST00000524487
resolver
enst
ENST00000529341
resolver
genesymbol
RAPSN
resolver
genesymbol_syn
RNF205
resolver
hgnc
HGNC:9863
resolver
uniprot
A0A0S2Z4A2
resolver
uniprot
A0A0S2Z4A6
resolver
uniprot
A0A0S2Z4F8
resolver
uniprot
A0A0S2Z4M9
resolver
uniprot
E9PJP9
resolver
uniprot
E9PK11
resolver
uniprot
Q8TDF3
resolver
uniprot
Q9BTD9
resolver
uniprot_entry
A0A0S2Z4A2_HUMAN
resolver
uniprot_entry
A0A0S2Z4A6_HUMAN
resolver
uniprot_entry
A0A0S2Z4F8_HUMAN
resolver
uniprot_entry
A0A0S2Z4M9_HUMAN
resolver
uniprot_entry
E9PJP9_HUMAN
resolver
uniprot_entry
E9PK11_HUMAN
resolver
uniprot_entry
RAPSN_HUMAN
resolver
uniprot_sec
Q8TDF3
resolver
uniprot_sec
Q9BTD9
resolver
amino_acid_sequence
MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYKEMLKFAVVQIDTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQLGGQVSLSMGNAFLGLSVFQKALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYEKALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRLLGRLGSAMECCEESMKIALQHGDRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIMTEIGNRLGQVQALLGVAKCWVARKALDKALDAIERAQDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEETELYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV
uniprot
proteins
disease_involvement
DISEASE: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) [MIM:616326]: 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. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO:0000269|PubMed:11791205, ECO:0000269|PubMed:12730725, ECO:0000269|PubMed:12796535, ECO:0000269|PubMed:12929188, ECO:0000269|PubMed:14504330, ECO:0000269|PubMed:15036330, ECO:0000269|PubMed:15328566, ECO:0000269|PubMed:16931511, ECO:0000269|PubMed:17594401}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Fetal akinesia deformation sequence 2 (FADS2) [MIM:618388]: 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. FADS2 inheritance is autosomal recessive. {ECO:0000269|PubMed:18179903, ECO:0000269|PubMed:18252226}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.
uniprot
proteins
mass_dalton
46328
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation. {ECO:0000269|PubMed:19158078}.
uniprot
proteins
protein_family
RAPsyn family
uniprot
proteins
pubmed
11791205
uniprot
proteins
pubmed
12730725
uniprot
proteins
pubmed
12796535
uniprot
proteins
pubmed
12929188
uniprot
proteins
pubmed
14504330
uniprot
proteins
pubmed
15036330
uniprot
proteins
pubmed
15328566
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16931511
uniprot
proteins
pubmed
17594401
uniprot
proteins
pubmed
18179903
uniprot
proteins
pubmed
18252226
uniprot
proteins
pubmed
19158078
uniprot
proteins
pubmed
8812503
uniprot
proteins
sequence_length
412
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of postsynaptic membranes.
uniprot
proteins