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OPN1MW opsin 1, medium wave sensitive [ Homo sapiens (human) ]

Gene ID: 2652, updated on 18-Aug-2020

Summary

Official Symbol
OPN1MWprovided by HGNC
Official Full Name
opsin 1, medium wave sensitiveprovided by HGNC
Primary source
HGNC:HGNC:4206
See related
Ensembl:ENSG00000268221 MIM:300821
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
CBD; GCP; GOP; CBBM; COD5; OPN1MW1
Summary
This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See OPN1MW in Genome Data Viewer
Location:
Xq28
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154182596..154196861)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153448085..153462352)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene opsin locus control region Neighboring gene opsin 1, long wave sensitive Neighboring gene testis expressed 28 pseudogene 2 Neighboring gene testis expressed 28 pseudogene 1 Neighboring gene opsin 1, medium wave sensitive 2 Neighboring gene testis expressed 28 pseudogene

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?

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • MGC176615, MGC177321, MGC198468, MGC198469

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled photoreceptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor activity IMP
Inferred from Mutant Phenotype
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 
positive regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-chromophore linkage IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
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 outer segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
medium-wave-sensitive opsin 1
Names
cone dystrophy 5 (X-linked)
green cone photoreceptor pigment
green cone pigment
green-sensitive opsin
opsin 1 (cone pigments), medium-wave-sensitive
photopigment apoprotein

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_011606.1 RefSeqGene

    Range
    5001..19268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000513.2NP_000504.1  medium-wave-sensitive opsin 1

    See identical proteins and their annotated locations for NP_000504.1

    Status: REVIEWED

    Source sequence(s)
    AC244097
    Consensus CDS
    CCDS14743.1
    UniProtKB/Swiss-Prot
    P04001, P0DN77, P0DN78
    Related
    ENSP00000472316.1, ENST00000595290.6
    Conserved Domains (2) summary
    pfam00001
    Location:71322
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:61178
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    154182596..154196861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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