Cell atlas - RS1 - The Human Protein Atlas

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RS1

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	RS1
Gene description	Retinoschisin 1
Protein class	Disease related genes Predicted secreted proteins
Predicted localization	Secreted
Number of transcripts	1
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Not detected
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Not detected Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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 Show all	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] Show all	224 aa 25.6 kDa	Yes	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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