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

Gene ID: 611, updated on 23-Nov-2021

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
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Genomic context

See OPN1SW in Genome Data Viewer
Location:
7q32.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (128772485..128775794, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128412539..128415848, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene golgi associated RAB2 interactor 1B 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
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
GeneReviews: Not available
Tritanopia
MedGen: C0155017 OMIM: 190900 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled photoreceptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to UV-A IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to light stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in detection of visible light IEA
Inferred from Electronic Annotation
more info
 
involved_in phototransduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein-chromophore linkage IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
is_active_in photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
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)

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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
    4997..8306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001385125.1NP_001372054.1  short-wave-sensitive opsin 1

    Status: REVIEWED

    Source sequence(s)
    AC024952
    Consensus CDS
    CCDS5806.1
    Related
    ENSP00000249389.3, ENST00000249389.3
    Conserved Domains (1) summary
    cd15076
    Location:32311
    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 109.20211119

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
    128772485..128775794 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001708.2: Suppressed sequence

    Description
    NM_001708.2: This RefSeq was removed because currently there is support for the transcript but not for the protein N-terminus.
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