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RS1

GENERAL INFORMATION

Gene name

 RS1

Gene description

 Retinoschisin 1

Protein class

 Disease related genes
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (lung, cerebral cortex)
GTEx:Tissue enhanced (lung, cerebral cortex)
FANTOM5:Tissue enriched (retina)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in retina.

DATA RELIABILITY

Data reliability
description

 Presumed off target binding observed and disregarded. External characterization data supports antibody staining but no internal RNA data available for correlation.

Reliability score

 Supported based on 1 antibody.
HPA059546
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Eye
N/A
Retina
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (lung, cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (lung, cerebral cortex)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (retina)

GENE INFORMATION

Gene name

 RS1 (HGNC Symbol)

Synonyms

 RS, XLRS1

Description

 Retinoschisin 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 X

Cytoband

 p22.13

Chromosome location (bp)

 18639910 - 18672109

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000102104 (version 83.38)

Entrez gene

 6247

UniProt

 O15537 (UniProt - Evidence at protein level)

neXtProt

 NX_O15537

Antibodypedia

 RS1 antibodies

PROTEIN BROWSER
RS1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
RS1-001
ENSP00000369320
ENST00000379984
O15537 [Direct mapping]
Retinoschisin
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Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001786 [phosphatidylserine binding]
GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding]
GO:0005547 [phosphatidylinositol-3,4,5-trisphosphate binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0007155 [cell adhesion]
GO:0007275 [multicellular organismal development]
GO:0007601 [visual perception]
GO:0010314 [phosphatidylinositol-5-phosphate binding]
GO:0010842 [retina layer formation]
GO:0016062 [adaptation of rhodopsin mediated signaling]
GO:0019897 [extrinsic component of plasma membrane]
GO:0032266 [phosphatidylinositol-3-phosphate binding]
GO:0043325 [phosphatidylinositol-3,4-bisphosphate binding]
GO:0070273 [phosphatidylinositol-4-phosphate binding]
GO:0080025 [phosphatidylinositol-3,5-bisphosphate binding]
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 224 aa
25.6 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.