Seroatlas · Human Serome Atlas

RAPSN

43 kDa receptor-associated protein of the synapse

Also known as: CMS1D, CMS1E, RAPSN_HUMAN, RNF205

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13702
Gene
RAPSN
Ensembl
ENSG00000165917
Chromosome
11
Canonical length
412 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane,Centrosome,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

412 residues, UniProt reviewed canonical sequence.

>Q13702|RAPSN
     1  MGQDQTKQQI EKGLQLYQSN QTEKALQVWT KVLEKSSDLM GRFRVLGCLV TAHSEMGRYK
    61  EMLKFAVVQI DTARELEDAD FLLESYLNLA RSNEKLCEFH KTISYCKTCL GLPGTRAGAQ
   121  LGGQVSLSMG NAFLGLSVFQ KALESFEKAL RYAHNNDDAM LECRVCCSLG SFYAQVKDYE
   181  KALFFPCKAA ELVNNYGKGW SLKYRAMSQY HMAVAYRLLG RLGSAMECCE ESMKIALQHG
   241  DRPLQALCLL CFADIHRSRG DLETAFPRYD SAMSIMTEIG NRLGQVQALL GVAKCWVARK
   301  ALDKALDAIE RAQDLAEEVG NKLSQLKLHC LSESIYRSKG LQRELRAHVV RFHECVEETE
   361  LYCGLCGESI GEKNSRLQAL PCSHIFHLRC LQNNGTRSCP NCRRSSMKPG FV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAPSN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
83 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 83 nTPM
  • tongue: 31 nTPM
  • heart muscle: 2.5 nTPM
  • placenta: 2 nTPM
  • adrenal gland: 1.4 nTPM
  • salivary gland: 1.3 nTPM

Single-cell type

  • myosatellite cells: 67 nCPM
  • myonuclei: 45 nCPM
  • late spermatids: 22 nCPM
  • thymic myoid cells: 16 nCPM
  • neutrophils: 8.7 nCPM
  • epididymal efferent duct absorptive cells: 7.7 nCPM

Immune cell

  • neutrophil: 0.4 nTPM
  • classical monocyte: 0.1 nTPM
  • gdT-cell: 0.1 nTPM
  • naive CD4 T-cell: 0.1 nTPM
  • basophil: 0 nTPM
  • eosinophil: 0 nTPM

Brain region

  • cerebral cortex: 2.4 nTPM
  • choroid plexus: 1.7 nTPM
  • thalamus: 1.2 nTPM
  • amygdala: 1.1 nTPM
  • hippocampal formation: 1 nTPM
  • white matter: 1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAPSN.

Disease | AllUniProt

Conditions RAPSN is implicated in, by any mechanism.

  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11) MIM:616326
  • Fetal akinesia deformation sequence 2 (FADS2) MIM:618388

Disease | GeneticClinVar

114 pathogenic / likely-pathogenic of 754 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.74
gnomAD pLI
0
gnomAD missense Z
0.55
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RAPSN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RAPSN as an antibody target. Whether an autoantibody or antibody against RAPSN could matter depends on whether native RAPSN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RAPSN is annotated at the cell surface, where native RAPSN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label RAPSN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RAPSN. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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