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

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; AllianceGenome:HGNC:4206
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: mouse all
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Genomic context

Location:: Xq28

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154182596..154196861)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152456258..152470523)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153448085..153462352)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Title: The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
Title: Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders.
Title: Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders.
These results suggest that O-glycosylation is a fundamental feature of red and green cone opsins, which may be relevant to their function or to cone cell development, and that differences in this post-translational modification also could contribute to the different morphologies of rod and cone photoreceptors.
Title: Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates.
Molecular genetic analysis of the OPN1LW/OPN1MW gene cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR.
Title: A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.
conformational characterization of the two deutan green cone opsin mutants N94K and R330Q; provide novel insights into the mechanism of green cone opsin alterations; results, on the disruptive effect of single point mutants, provide further evidence of the sophisticated network of structural interactions that underlay -and differentiate- rhodopsin and cone opsins functions
Title: Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin.
OPN1LW and OPN1MW restore M-cone function in a mouse model of human blue cone monochromacy.
Title: Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.
By inserting five different thermostabilizing proteins (BRIL, T4L, PGS, RUB, and FLAV) into the recombinant green opsin sequence, constructs were created that were up to 9-fold more stable than WT.
Title: Increasing the Stability of Recombinant Human Green Cone Pigment.
Investigated 24 affected males with blue cone monochromacy from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism.
Title: De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Findings show that mutation in OPN1MW underlie the cone dysfunction in all of the subjects tested, the color vision defect can be caused either by the same mutation or a gene rearrangement at the same locus.
Title: Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cone monochromatism MedGen: C0339537 OMIM: 303700 GeneReviews: Not available	Compare labs
Deuteranomaly MedGen: C3887938 OMIM: 303800 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480769

OPN1MW (e-PCR)
- UniSTS:506666

NoName (e-PCR)
- UniSTS:494702

ECD13496 (e-PCR)
- UniSTS:294526

Opn1mw (e-PCR), detects polymorphism
- UniSTS:536456

REN89063 (e-PCR)
- UniSTS:413861

OPN1LW (e-PCR)
- UniSTS:266927

G44366 (e-PCR)
- UniSTS:95152

Clone Names

MGC176615, MGC177321, MGC198468, MGC198469

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled photoreceptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables photoreceptor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to light stimulus	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in positive regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in photoreceptor disc membrane	TAS Traceable Author Statement more info
is_active_in photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: medium-wave-sensitive opsin 1

Names: Medium-wave-sensitive opsin 2; Opsin 1 cone pigments medium-wave-sensitive 2; 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)

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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

NG_011606.2 RefSeqGene

Range

5002..19267

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000513.2 → NP_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

UniProtKB/TrEMBL

B7ZLG5

Related

ENSP00000472316.1, ENST00000595290.6

Conserved Domains (2) summary

pfam00001
Location:71 → 322

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:61 → 178

7tm_4; Olfactory receptor