FIGURE: 1 / 1
Peptide sequence: MGQDQTKQQI EKGLQLYQSN QTEKALQVWT KVLEKSSDLM GRFRVLGCLV
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%; Zebrafish: 100%
This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Protein Aliases: 43 kDa postsynaptic protein; 43 kDa receptor-associated protein of the synapse; Acetylcholine receptor-associated 43 kDa protein; CMS1D; CMS1E; MGC3597; RAPsyn; receptor-associated protein of the synapse; RING finger protein 205
Gene Aliases: CMS11; CMS4C; FADS; RAPSN; RAPSYN; RNF205
UniProt ID: (Human) Q13702
Entrez Gene ID: (Human) 5913