Seroatlas · Human Serome Atlas

RS1

Retinoschisin

Also known as: RS, XLRS1, XLRS1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O15537
Gene
RS1
Ensembl
ENSG00000102104
Chromosome
X
Canonical length
224 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted secreted proteins, Transporters
Secretome location
Secreted in other tissues
Quaternary structure
Homooctamer

OverviewNCBI Gene

This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

224 residues, UniProt reviewed canonical sequence.

>O15537|RS1
     1  MSRKIEGFLL LLLFGYEATL GLSSTEDEGE DPWYQKACKC DCQGGPNALW SAGATSLDCI
    61  PECPYHKPLG FESGEVTPDQ ITCSNPEQYV GWYSSWTANK ARLNSQGFGC AWLSKFQDSS
   121  QWLQIDLKEI KVISGILTQG RCDIDEWMTK YSVQYRTDER LNWIYYKDQT GNNRVFYGNS
   181  DRTSTVQNLL RPPIISRFIR LIPLGWHVRI AIRMELLECV SKCA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RS1 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)
0.37
Highest tissue expression
198 nTPM

Expression across tissuesHPA

Tissue

  • retina: 198 nTPM
  • lung: 0.9 nTPM
  • cerebral cortex: 0.6 nTPM
  • basal ganglia: 0.5 nTPM
  • cerebellum: 0.2 nTPM
  • amygdala: 0.1 nTPM

Single-cell type

  • cone photoreceptor cells: 340 nCPM
  • rod photoreceptor cells: 248 nCPM
  • alveolar cells type 1: 24 nCPM
  • syncytiotrophoblasts: 10 nCPM
  • retinal horizontal cells: 6 nCPM
  • müller glia: 5.1 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 0.7 nTPM
  • basal ganglia: 0.6 nTPM
  • white matter: 0.3 nTPM
  • amygdala: 0.2 nTPM
  • cerebellum: 0.2 nTPM
  • hippocampal formation: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RS1.

Disease | AllUniProt

Conditions RS1 is implicated in, by any mechanism.

  • Retinoschisis juvenile X-linked 1 (XLRS1) MIM:312700

Disease | GeneticClinVar

288 pathogenic / likely-pathogenic of 649 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)
0.3
gnomAD pLI
0.96
gnomAD missense Z
0.97
DepMap mean gene effect
0.19
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RS1 as an antibody target. Whether an autoantibody or antibody against RS1 could matter depends on whether native RS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RS1 is annotated at the cell surface, where native RS1 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 RS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RS1. 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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