Homo sapiens Protein: RAPSN | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-43432.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | RAPSN | ||||||||||||||||||||||
Protein Name | receptor-associated protein of the synapse | ||||||||||||||||||||||
Synonyms | RAPSYN; RNF205; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000298853 | ||||||||||||||||||||||
InnateDB Gene | IDBG-43428 (RAPSN) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. | ||||||||||||||||||||||
Subcellular Localization | Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of postsynaptic membranes. | ||||||||||||||||||||||
Disease Associations | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. {ECO:0000269PubMed:11791205, ECO:0000269PubMed:12730725, ECO:0000269PubMed:12796535, ECO:0000269PubMed:12929188, ECO:0000269PubMed:14504330, ECO:0000269PubMed:15036330, ECO:0000269PubMed:15328566, ECO:0000269PubMed:16931511, ECO:0000269PubMed:17594401}. Note=The disease is caused by mutations affecting the gene represented in this entry.Fetal akinesia deformation sequence (FADS) [MIM:208150]: Rare condition characterized by decreased intrauterine fetal movement, congenital limb contractures, pulmonary hypoplasia, polyhydramnios and craniofacial abnormalities. {ECO:0000269PubMed:18179903, ECO:0000269PubMed:18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001237
43kDa postsynaptic protein IPR001841 Zinc finger, RING-type IPR013026 Tetratricopeptide repeat-containing domain IPR019568 Rapsyn, myristoylation/linker region, N-terminal IPR019734 Tetratricopeptide repeat |
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PFAM |
PF13639
PF14634 PF10579 PF13174 PF13176 PF13181 |
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PRINTS |
PR00217
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PIRSF | |||||||||||||||||||||||
SMART |
SM00184
SM00028 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q13702 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q13702 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 5913 | ||||||||||||||||||||||
UniGene | Hs.81218 | ||||||||||||||||||||||
RefSeq | NP_116034 | ||||||||||||||||||||||
HUGO | HGNC:9863 | ||||||||||||||||||||||
OMIM | 601592 | ||||||||||||||||||||||
CCDS | CCDS7937 | ||||||||||||||||||||||
HPRD | 03353 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF449218 BC004196 CH471064 Z33905 | ||||||||||||||||||||||
GenPept | AAH04196 AAL86639 CAA83954 EAW67914 | ||||||||||||||||||||||