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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
Related
cholinergic receptor
General
myristoylated protein
phosphoprotein
receptor
ring finger protein
Properties
SIZE: entity length = 412 aa
MW = 46 kD
COMPARTMENT: cytoplasm
MOTIF: myristoylation site
SITE: G2
EFFECTOR-BOUND: myristate
tetratricopeptide repeat {6-39}
tetratricopeptide repeat {83-116}
tetratricopeptide repeat {123-156}
tetratricopeptide repeat {163-196}
MOTIF: Tyr phosphorylation site {Y196}
tetratricopeptide repeat {206-239}
tetratricopeptide repeat {246-279}
tetratricopeptide repeat {286-319}
RING-finger {363-403}
EFFECTOR-BOUND: Zn+2
FOR-BINDING-OF: DNA motif
Ser phosphorylation site {S405}
Database Correlations
OMIM correlations
MORBIDMAP 601592
UniProt Q13702
Pfam PF10579
Entrez Gene 5913
Kegg hsa:5913
References
- UniProt :accession Q13702
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/RAPSN