OPN1LW

Protein identityUniProt · HPA

UniProt accession

P04000

Gene

OPN1LW

Ensembl

ENSG00000102076

Chromosome

X

Canonical length

364 aa

Protein class

Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

364 residues, UniProt reviewed canonical sequence.

>P04000|OPN1LW
     1  MAQQWSLQRL AGRHPQDSYE DSTQSSIFTY TNSNSTRGPF EGPNYHIAPR WVYHLTSVWM
    61  IFVVTASVFT NGLVLAATMK FKKLRHPLNW ILVNLAVADL AETVIASTIS IVNQVSGYFV
   121  LGHPMCVLEG YTVSLCGITG LWSLAIISWE RWMVVCKPFG NVRFDAKLAI VGIAFSWIWA
   181  AVWTAPPIFG WSRYWPHGLK TSCGPDVFSG SSYPGVQSYM IVLMVTCCII PLAIIMLCYL
   241  QVWLAIRAVA KQQKESESTQ KAEKEVTRMV VVMIFAYCVC WGPYTFFACF AAANPGYAFH
   301  PLMAALPAYF AKSATIYNPV IYVFMNRQFR NCILQLFGKK VDDGSELSSA SKTEVSSVSS
   361  VSPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OPN1LW can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

7

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

238 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OPN1LW.

Disease | AllUniProt

Conditions OPN1LW is implicated in, by any mechanism.

• Colorblindness, partial, protan series (CBP) MIM:303900
• Blue cone monochromacy (BCM) MIM:303700

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 50 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cone monochromatism
• Protan defect

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.26

gnomAD pLI

0.98

gnomAD missense Z

0.47

DepMap mean gene effect

0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• absorption of visible light
• cellular response to light stimulus
• G protein-coupled receptor signaling pathway
• phototransduction
• positive regulation of cytokinesis
• signal transduction
• visual perception

Molecular functions

• G protein-coupled photoreceptor activity
• photoreceptor activity

Cellular components

• photoreceptor disc membrane
• photoreceptor outer segment
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• G protein-coupled receptor, rhodopsin-like
• Opsin red/green sensitive
• Opsin
• GPCR, rhodopsin-like, 7TM
• Visual pigments (opsins) retinal binding site
• G-protein coupled receptor opsins
• 7 transmembrane receptor (rhodopsin family)

KeywordsUniProt

• Chromophore
• Disulfide bond
• G-protein coupled receptor
• Glycoprotein
• Membrane
• Phosphoprotein
• Photoreceptor protein
• Receptor
• Retinal protein
• Sensory transduction
• Transducer
• Transmembrane
• Transmembrane helix
• Vision