Version 5.4
Homo sapiens Gene: RAPSN
Summary
InnateDB Gene IDBG-43428.6
Last Modified 2014-10-13 [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
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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 11:47437757-47449178
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 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0033130 acetylcholine receptor binding
GO:0035255 ionotropic glutamate receptor binding
GO:0043495 protein anchor
Biological Process
GO:0007268 synaptic transmission
GO:0007271 synaptic transmission, cholinergic
GO:0043525 positive regulation of neuron apoptotic process
GO:0071340 skeletal muscle acetylcholine-gated channel clustering
GO:1900075 positive regulation of neuromuscular synaptic transmission
GO:1901626 regulation of postsynaptic membrane organization
Cellular Component
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
ENSMUSG00000002104
View Gene Order
ENSBTAG00000021745
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.81218
RefSeq NM_005055 NM_032645
HUGO
OMIM
CCDS CCDS7936 CCDS7937
HPRD 03353
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca