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

Gene ID: 611, updated on 19-Jul-2014
Official Symbol
OPN1SWprovided by HGNC
Official Full Name
opsin 1 (cone pigments), short-wave-sensitiveprovided by HGNC
Primary source
HGNC:1012
See related
Ensembl:ENSG00000128617; HPRD:01836; 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]
See OPN1SW in Epigenomics, MapViewer
Location:
7q32.1
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 RNA, 5S ribosomal pseudogene 242 Neighboring gene family with sequence similarity 71, member F1 Neighboring gene calumenin Neighboring gene transfer RNA-Pro (AGG) 2-8 Neighboring gene coiled-coil domain containing 136

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Tritanopia
MedGen: C0155017 OMIM: 190900 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
NHGRI GWA Catalog
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    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 ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
    Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
  • Opsins, organism-specific biosystem (from REACTOME)
    Opsins, organism-specific biosystemOpsins are light-sensitive, 35-55 kDa membrane-bound G protein-coupled receptors of the retinylidene protein family found in photoreceptor cells of the retina. Five classical groups of opsins are inv...
  • Retinoid cycle disease events, organism-specific biosystem (from REACTOME)
    Retinoid cycle disease events, organism-specific biosystemThe gene defects which cause diseases related to the retinoid cycle are described here (Travis et al. 2007, Palczewski 2010, Fletcher et al. 2011, den Hollander et al. 2008).
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • The retinoid cycle in cones (daylight vision), organism-specific biosystem (from REACTOME)
    The retinoid cycle in cones (daylight vision), organism-specific biosystemRods and cones share the same mechanism for the phototransduction process but perform functionally different roles. Although cone photoreceptors make up around 5% of all photoreceptor cells and are o...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein coupled receptor activity IEA
Inferred from Electronic Annotation
more info
 
photoreceptor activity IEA
Inferred from Electronic Annotation
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
 
phototransduction TAS
Traceable Author Statement
more info
PubMed 
phototransduction, visible light TAS
Traceable Author Statement
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 outer segment membrane TAS
Traceable Author Statement
more info
 
Preferred Names
short-wave-sensitive opsin 1
Names
short-wave-sensitive opsin 1
blue-sensitive opsin
blue cone photoreceptor pigment

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 

    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 proteins identical to NP_001699.1

    Status: REVIEWED

    Source sequence(s)
    AC024952, BM666330, DQ822478
    Consensus CDS
    CCDS5806.1
    UniProtKB/Swiss-Prot
    P03999
    UniProtKB/TrEMBL
    Q0PJU0
    Related
    ENSP00000249389, OTTHUMP00000212782, ENST00000249389, OTTHUMT00000350655
    Conserved Domains (2) summary
    pfam00001
    Location:57303
    Blast Score: 455
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam10328
    Location:46170
    Blast Score: 85
    7TM_GPCR_Srx; Serpentine type 7TM GPCR chemoreceptor Srx

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

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

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    122773527..122776828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

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