RAPSN

GENE INFORMATION

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Gene name

RAPSN (HGNC Symbol)

Synonyms

CMS1D, CMS1E, RNF205

Description

Receptor-associated protein of the synapse (HGNC Symbol)

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]

Chromosome

11

Cytoband

p11.2

Chromosome location (bp)

47459308 - 47470730

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165917 (version 75.37)

Entrez gene

5913

UniProt

Q13702 (UniProt - Evidence at protein level)

neXtProt

NX_Q13702

Antibodypedia

RAPSN antibodies
 

PROTEIN VIEW

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RAPSN-001
 
RAPSN-002
 
RAPSN-003
 
RAPSN-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RAPSN-001 ENSP00000298854
ENST00000298854
Q13702
Show all »
Show » Show » 412 46.3 No 0
RAPSN-002 ENSP00000298853
ENST00000352508
Q13702
Show all »
Show » Show » 353 39.9 No 0
RAPSN-003 ENSP00000431732
ENST00000529341
E9PK11
Show all »
Show » Show » 353 39.7 No 0
RAPSN-004 ENSP00000435551
ENST00000524487
E9PJP9
Show all »
Show » Show » 424 46.5 No 0