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    RS1 retinoschisin 1 [ Homo sapiens (human) ]

    Gene ID: 6247, updated on 9-Jul-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 Scm polycomb group protein like 2 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 ISS
    Inferred from Sequence or Structural Similarity
    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 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retina layer formation IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular space IDA
    Inferred from Direct Assay
    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
      ENSP00000369320.3, OTTHUMP00000023004, ENST00000379984.3, 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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