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

Gene ID: 611, updated on 20-Dec-2019

Summary

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
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]
Expression
Ubiquitous expression in heart (RPKM 1.6), appendix (RPKM 1.4) and 24 other tissues See more
Orthologs

Genomic context

See OPN1SW in Genome Data Viewer
Location:
7q32.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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 blue cone (S) opsin upstream regulatory region Neighboring gene tRNA-Pro (anticodon AGG) 2-3 Neighboring gene coiled-coil domain containing 136 Neighboring gene uncharacterized LOC107986846

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

General gene information

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
PubMed 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
cellular response to light stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
detection of visible light IEA
Inferred from Electronic Annotation
more info
 
phototransduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
short-wave-sensitive opsin 1
Names
blue cone photoreceptor pigment
blue-sensitive opsin
opsin 1 (cone pigments), short-wave-sensitive

NCBI Reference Sequences (RefSeq)

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, ENST00000249389.2
    Conserved Domains (1) summary
    cd15076
    Location:35314
    7tmA_SWS1_opsin; short wave-sensitive 1 opsins, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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