RAPSN

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. [provided by RefSeq, Apr 2011]

Description

Receptor associated protein of the synapse

Tissue specificity

Group enriched (skeletal muscle, tongue)

Subcell location

Plasma membrane, Centrosome, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

11 (47437764 - 47449143)

Ensembl ID

ENSG00000165917  (ver. 103.38)

Orthologs

Mouse Rapsn: ENSMUSG00000002104

UniProt

Q13702

neXtProt

NX_Q13702

Human splice variants
Mouse splice variants

Protein structure