• Gene id: 5913

Gene Summary

• Gene Symbol: RAPSN   Gene   UCSC   Ensembl
• Aliases: CMS11, CMS4C, FADS, FADS2, RAPSYN, RNF205
• Gene name: receptor associated protein of the synapse
• Alternate names: 43 kDa receptor-associated protein of the synapse, 43 kda postsynaptic protein, RING finger protein 205, acetylcholine receptor-associated 43 kda protein,
• Gene location: 11p11.2 (47449135: 47437763)     Exons: 8     NC_000011.10
• Gene summary(Entrez): 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 nic
• OMIM: 601592

Protein Summary

• Protein general information: Q13702  
  • Name: 43 kDa receptor associated protein of the synapse (RAPsyn) (43 kDa postsynaptic protein) (Acetylcholine receptor associated 43 kDa protein) (RING finger protein 205)
  • Length: 412  
  • Mass: 46328
• Sequence:

  MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYKEMLKFAVVQIDTARE
  LEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQLGGQVSLSMGNAFLGLSVFQKALESFEKAL
  RYAHNNDDAMLECRVCCSLGSFYAQVKDYEKALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRLLGRLGSA
  MECCEESMKIALQHGDRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIMTEIGNRLGQVQALLGVAKCWVARK
  ALDKALDAIERAQDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEETELYCGLCGESIGEKNS
  RLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV

• Structural information:
  • Interpro: IPR001237  IPR018293  IPR019568  IPR013026  IPR011990   IPR041617  IPR019734  IPR001841  IPR013083  
  • Prosite: PS00405 PS50005 PS50293 PS50089
  • STRING: ENSP00000298854
• Other Databases: GeneCards:  RAPSN  Malacards:  RAPSN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0033130	acetylcholine receptor binding	IEA	molecular function
GO:0043495	protein-membrane adaptor activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0033130	acetylcholine receptor binding	IDA	molecular function
GO:0007271	synaptic transmission, cholinergic	IGI	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:1900075	positive regulation of neuromuscular synaptic transmission	IEA	biological process
GO:1901626	regulation of postsynaptic membrane organization	IEA	biological process
GO:1903540	establishment of protein localization to postsynaptic membrane	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0099634	postsynaptic specialization membrane	IEA	cellular component
GO:0035255	ionotropic glutamate receptor binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0033130	acetylcholine receptor binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Fetal akinesia deformation sequence	KEGG:H00987
Congenital myasthenic syndrome	KEGG:H00770
Fetal akinesia deformation sequence	KEGG:H00987
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881