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    OPN1SW opsin 1, short wave sensitive [ Homo sapiens (human) ]

    Gene ID: 611, updated on 2-Jul-2017
    Official Symbol
    OPN1SWprovided by HGNC
    Official Full Name
    opsin 1, short wave sensitiveprovided by HGNC
    Primary source
    HGNC:HGNC:1012
    See related
    Ensembl:ENSG00000128617 MIM:613522; Vega:OTTHUMG00000158311
    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
    BCP; BOP; CBT
    Summary
    This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    7q32.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (128772489..128775790, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128412543..128415844, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 71 member F1 Neighboring gene calumenin Neighboring gene RNA, 7SL, cytoplasmic 81, pseudogene Neighboring gene transfer RNA-Pro (AGG) 2-3 Neighboring gene coiled-coil domain containing 136 Neighboring gene uncharacterized LOC107986846

    • 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

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Tritanopia
    MedGen: C0155017 OMIM: 190900 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    NHGRI GWA Catalog
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      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
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    • Opsins, organism-specific biosystem (from REACTOME)
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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled photoreceptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    detection of visible light IEA
    Inferred from Electronic Annotation
    more info
     
    phototransduction IEA
    Inferred from Electronic Annotation
    more info
     
    protein-chromophore linkage IEA
    Inferred from Electronic Annotation
    more info
     
    retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
     
    photoreceptor outer segment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    short-wave-sensitive opsin 1
    Names
    blue cone photoreceptor pigment
    blue-sensitive opsin
    opsin 1 (cone pigments), short-wave-sensitive

    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_009094.1 RefSeqGene

      Range
      5001..8302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001708.2NP_001699.1  short-wave-sensitive opsin 1

      See identical proteins and their annotated locations for NP_001699.1

      Status: REVIEWED

      Source sequence(s)
      AC024952, BM666330, DQ822478
      Consensus CDS
      CCDS5806.1
      UniProtKB/Swiss-Prot
      P03999
      UniProtKB/TrEMBL
      Q0PJU0
      Related
      ENSP00000249389.2, OTTHUMP00000212782, ENST00000249389.2, OTTHUMT00000350655
      Conserved Domains (2) summary
      pfam00001
      Location:52303
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:44321
      7tm_4; Olfactory receptor

    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_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      128772489..128775790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      128345783..128349084 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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