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RS1 retinoschisin 1 [ Homo sapiens (human) ]

Gene ID: 6247, updated on 12-Mar-2017
Official Symbol
RS1provided by HGNC
Official Full Name
retinoschisin 1provided by HGNC
Primary source
HGNC:HGNC:10457
See related
Ensembl:ENSG00000102104 MIM:300839; Vega:OTTHUMG00000021216
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RS; XLRS1
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]
Orthologs
Location:
Xp22.13
Exon count:
6
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (18639688..18672103, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (18657808..18690223, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene sex comb on midleg like 2 (Drosophila) Neighboring gene thymosin beta 10 pseudogene 2 Neighboring gene cyclin dependent kinase like 5 Neighboring gene gap junction protein alpha 6 pseudogene Neighboring gene transfer RNA-Val (TAC) 1-2 Neighboring gene PPEF1 antisense RNA 1 Neighboring gene protein phosphatase with EF-hand domain 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Juvenile retinoschisis Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-14)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-14)

ClinGen Genome Curation PagePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
oligosaccharide binding IBA
Inferred from Biological aspect of Ancestor
more info
 
phosphatidylinositol-3,4,5-trisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,4-bisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,5-bisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-4,5-bisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-4-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-5-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylserine binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adaptation of rhodopsin mediated signaling IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
retina layer formation IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space TAS
Traceable Author Statement
more info
PubMed 
extrinsic component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
retinoschisin
Names
X-linked juvenile retinoschisis protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008659.3 RefSeqGene

    Range
    10346..42761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_702

mRNA and Protein(s)

  1. NM_000330.3NP_000321.1  retinoschisin precursor

    See identical proteins and their annotated locations for NP_000321.1

    Status: REVIEWED

    Source sequence(s)
    AF014459, BQ185379, DQ426892, Z92542
    Consensus CDS
    CCDS14187.1
    UniProtKB/Swiss-Prot
    O15537
    Related
    ENSP00000369320, OTTHUMP00000023004, ENST00000379984, OTTHUMT00000055949
    Conserved Domains (2) summary
    smart00231
    Location:64219
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00057
    Location:68217
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

    Range
    18639688..18672103 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    18688889..18721309 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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