Homo sapiens Gene: RAPSN

Summary
InnateDB Gene IDBG-43428.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol RAPSN
Gene Name receptor-associated protein of the synapse
Synonyms RAPSYN; RNF205
Species Homo sapiens
Ensembl Gene ENSG00000165917
Encoded Proteins
IDBP-43430 receptor-associated protein of the synapse
IDBP-43432 receptor-associated protein of the synapse
IDBP-584991 receptor-associated protein of the synapse
IDBP-591119 receptor-associated protein of the synapse
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11: 47459308-47470730
Strand Reverse strand
Band p11.2
Transcripts
ENST00000298854  ENSP00000298854
ENST00000352508  ENSP00000298853
ENST00000528356 
ENST00000524487  ENSP00000435551
ENST00000529341  ENSP00000431732
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein‑Protein  6
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0033130 acetylcholine receptor binding
GO:0035255 ionotropic glutamate receptor binding
Biological Process
GO:0007268 synaptic transmission
GO:0007271 synaptic transmission, cholinergic
GO:0043525 positive regulation of neuron apoptotic process
Cellular Component
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0030054 cell junction
GO:0031594 neuromuscular junction
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000002104 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000021745 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
100252 Agrin in postsynaptic differentiation [Biocarta view]
100255 Role of nicotinic acetylcholine receptors in the regulation of apoptosis [Biocarta view]
PID NCI
Cross-References
SwissProt Q13702 
TrEMBL E9PJP9 E9PK11
UniProt Splice Variant
Entrez Gene 5913 
UniGene Hs.81218
RefSeq NM_005055  NM_032645 
HUGO 9863 
OMIM 601592
CCDS CCDS7936  CCDS7937 
HPRD 03353
IMGT
EMBL AC090559 AF449218 BC004196 CH471064 Z33905
GenPept AAH04196  AAL86639  CAA83954  EAW67914 
ImmGen RAPSN (murine) 
RNA Seq Atlas 5913