NP_116034.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
39,912 Da
NCBI Official Full Name
43 kDa receptor-associated protein of the synapse isoform 2
NCBI Official Synonym Full Names
receptor-associated protein of the synapse
NCBI Protein Information
43 kDa receptor-associated protein of the synapse; RING finger protein 205; 43 kda postsynaptic protein; acetylcholine receptor-associated 43 kda protein
UniProt Protein Name
43 kDa receptor-associated protein of the synapse
UniProt Synonym Protein Names
43 kDa postsynaptic protein; Acetylcholine receptor-associated 43 kDa protein; RING finger protein 205
UniProt Synonym Gene Names
UniProt Entry Name
RAPSN_HUMAN
NCBI Summary for RAPSYN
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]
UniProt Comments for RAPSYN
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.
Protein type: Cell adhesion; Ubiquitin conjugating system; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 11p11.2
Cellular Component: Golgi apparatus; centrosome; postsynaptic membrane; cytoplasm; plasma membrane; cell junction; neuromuscular junction
Molecular Function: ionotropic glutamate receptor binding; zinc ion binding; protein anchor; acetylcholine receptor binding
Biological Process: synaptic transmission; positive regulation of neuron apoptosis; synaptic transmission, cholinergic
Disease: Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency; Fetal Akinesia Deformation Sequence
Research Articles on RAPSYN
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Products associated with anti-RAPSYN antibody
Diseases associated with anti-RAPSYN antibody
Organs/Tissues associated with anti-RAPSYN antibody
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