43 kD receptor-associated protein of the synapse; RAPsyn; acetylcholine receptor-associated 43 kD protein; 43 kD postsynaptic protein; RING finger protein 205 (RAPSN, RNF205)

Function

• thought to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites.
• may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin

Structure

• cysteine-rich region homologous to part of the regulatory domain of protein kinase C may be important in interactions with the lipid bilayer
• belongs to the RAPsyn family
• contains 1 RING-type Zn+2 finger
• contains 7 TPR repeats

Compartment

• cell membrane, cytoskeleton
• peripheral membrane protein, cytoplasmic side,
• cell junction, synapse, postsynaptic cell membrane
• cytoplasmic surface of postsynaptic membranes

Alternative splicing

named isoforms=2

Pathology

• defects in RAPSN are a cause of congenital myasthenic syndrome with nAChR deficiency (ACHRDCMS)
• defects in RAPSN are the cause of fetal akinesia deformation sequence

More general terms

• receptor
• ring finger protein
• myristoylated protein
• phosphoprotein

Additional terms

• cholinergic receptor

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5913
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5913
• OMIM: https://mirror.omim.org/entry/208150
• OMIM: https://mirror.omim.org/entry/601592
• OMIM: https://mirror.omim.org/entry/608931
• UniProt: http://www.uniprot.org/uniprot/Q13702.html