OPN1LW opsin 1, long wave sensitive [Homo sapiens (human)] - Gene

Summary

Official Symbol: OPN1LWprovided by HGNC
Official Full Name: opsin 1, long wave sensitiveprovided by HGNC
Primary source: HGNC:HGNC:9936
See related: Ensembl:ENSG00000102076 MIM:300822; AllianceGenome:HGNC:9936
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: CBP; RCP; ROP; CBBM; COD5
Summary: This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and 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 partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: Xq28

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154144243..154159032)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152417896..152432685)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153409717..153424507)

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:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.
Title: Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.
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.
Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia.
Title: Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia.
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.
Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.
Title: Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.
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.
Differential stability of variant OPN1LW gene transcripts in myopic Australian islander patients has been reported.
Title: Differential stability of variant OPN1LW gene transcripts in myopic patients.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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
Protan defect MedGen: C0155015 OMIM: 303900 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480769

ECD06199 (e-PCR)
- UniSTS:287261

ECD06457 (e-PCR)
- UniSTS:287517

PMC152297P2 (e-PCR)
- UniSTS:271219

ECD13496 (e-PCR)
- UniSTS:294526

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

REN89051 (e-PCR)
- UniSTS:413849

REN89052 (e-PCR)
- UniSTS:413850

REN89053 (e-PCR)
- UniSTS:413851

REN89054 (e-PCR)
- UniSTS:413852

REN89055 (e-PCR)
- UniSTS:413853

REN89056 (e-PCR)
- UniSTS:413854

REN89057 (e-PCR)
- UniSTS:413855

REN89059 (e-PCR)
- UniSTS:413857

REN89060 (e-PCR)
- UniSTS:413858

REN89061 (e-PCR)
- UniSTS:413859

REN89062 (e-PCR)
- UniSTS:413860

REN89063 (e-PCR)
- UniSTS:413861

OPN1LW (e-PCR)
- UniSTS:266927

G44366 (e-PCR)
- UniSTS:95152

GDB:452917 (e-PCR)
- UniSTS:99794

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 photoreceptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction 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 signal transduction	TAS Traceable Author Statement 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	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: long-wave-sensitive opsin 1

Names: cone dystrophy 5 (X-linked); opsin 1 (cone pigments), long-wave-sensitive; red cone opsin; red cone photoreceptor pigment; red-sensitive opsin

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_009105.2 RefSeqGene

Range

4993..19782

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020061.6 → NP_064445.2 long-wave-sensitive opsin 1

Status: REVIEWED

Source sequence(s)

BM688032, BQ639996, BU726889, DN693335, EL949562

Consensus CDS

CCDS14742.1

UniProtKB/Swiss-Prot

P04000

UniProtKB/TrEMBL

Q68CR4

Related

ENSP00000358967.4, ENST00000369951.9

Conserved Domains (2) summary

pfam00001
Location:71 → 322

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:68 → 264

7tm_4; Olfactory receptor