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]

Full Name

Receptor Associated Protein Of The Synapse

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.

Biological Process

Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process establishment of protein localization to postsynaptic membraneIEA:Ensembl
Biological Process motor neuron apoptotic processIEA:Ensembl
Biological Process positive regulation of motor neuron apoptotic processIEA:Ensembl
Biological Process positive regulation of neuromuscular synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of postsynaptic membrane organizationIEA:Ensembl
Biological Process synaptic transmission, cholinergicManual Assertion Based On ExperimentIGI:MGI

Cellular Location

Cell membrane
Postsynaptic cell membrane
Cytoplasm, cytoskeleton
Cytoplasmic surface of postsynaptic membranes.

Involvement in disease

Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11):
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.
Fetal akinesia deformation sequence 2 (FADS2):
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.

PTM

Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation.