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RAPSN (human)

Overview RAPSN Thought to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Defects in RAPSN are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD). A postsynaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. Defects in RAPSN are the cause of fetal akinesia deformation sequence (FADS); also known as Pena- Shokeir syndrome type 1 or fetal akinesia sequence or arthrogryposis multiplex congenita with pulmonary hypoplasia. FADS is a rare condition characterized by decreased intrauterine fetal movement, congenital limb contractures, pulmonary hypoplasia, polyhydramnios and craniofacial abnormalities. Belongs to the RAPsyn family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB. Protein type: Ubiquitin conjugating system; Motility/polarity/chemotaxis; Cell adhesion Cellular Component: Golgi apparatus; postsynaptic membrane; cytoskeleton; cytoplasm; plasma membrane; cell junction; neuromuscular junction Molecular Function: zinc ion binding; acetylcholine receptor binding Biological Process: synaptic transmission; positive regulation of neuron apoptosis; synaptic transmission, cholinergic Reference #:  Q13702 (UniProtKB) Alt. Names/Synonyms: 43 kDa postsynaptic protein; 43 kDa receptor-associated protein of the synapse; Acetylcholine receptor-associated 43 kDa protein; CMS1D; CMS1E; MGC3597; RAPSN; RAPsyn; receptor-associated protein of the synapse; receptor-associated protein of the synapse, 43kD; RING finger protein 205; RNF205 Gene Symbols: RAPSN Molecular weight: 46,328 Da Basal Isoelectric point: 8.48  Predict pI for various phosphorylation states

Select Structure to View Below RAPSN

STRING  |  Scansite  |  Phospho.ELM  |  Pfam  |  DISEASE 208150 601592 608931  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene

	Modification Sites and Domains

	Modification Sites in Parent Protein, Orthologs, and Isoforms

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		Y59-p	AHSEMGRyKEMLKFA
0	1		T115-p	TCLGLPGtRAGAQLG
0	1		S126-p	AQLGGQVsLSMGNAF
0	1		S383	RLQALPCSHIFHLRC
0	1		S398	LQNNGTRSCPNCRRS

	mouse
Y59	AHSEMGRYKEMLKFA
T115	TCLGLPGTRAGAQLG
S126	AQLGGQVSLSMGNAF
S383	RLQALPCSHIFHLRC
S398	LQNNGTRSCPNCRRS

	rat
Y59	AHSEMGRYKEMLKFA
T115	TCLGLPGTRAGAQLG
S126	AQLGGQVSLSMGNAF
S330-p	RLQALPCsHIFHLRC
S345-p	LQNNGTRsCPNCRRS

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