RS1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (lung)
GTEx:Tissue enhanced (cerebral cortex, lung)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (lung)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebral cortex, lung)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

6247

UniProt

O15537 (UniProt - Evidence at protein level)

neXtProt

NX_O15537

Antibodypedia

RS1 antibodies


PROTEIN BROWSER

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ENST00000379984
 
 
 
 


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)

RS1-001 ENSP00000369320
ENST00000379984
O15537
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