OPN1LW (opsin 1, long wave sensitive)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 5956
Gene name Opsin 1, long wave sensitive
Gene symbol OPN1LW
Synonyms (NCBI Gene)
CBBMCBPCOD5RCPROP
Chromosome X
Chromosome location Xq28
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
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT018519 hsa-miR-335-5p Microarray 18185580
MIRT1204396 hsa-miR-4434 CLIP-seq
MIRT1204397 hsa-miR-4516 CLIP-seq
MIRT1204398 hsa-miR-4531 CLIP-seq
MIRT1204399 hsa-miR-4534 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane TAS 9860863
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300822 9936 ENSG00000102076
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04000
Protein name Long-wave-sensitive opsin 1 (Red cone photoreceptor pigment) (Red-sensitive opsin) (ROP)
Protein function Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.
PDB 8IU2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 70 → 322 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: The three color pigments are found in the cone photoreceptor cells.
Sequence
Sequence length 364
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cone monochromatism Pathogenic rs2067071714, rs104894912, rs121434621 RCV001730041
RCV000011249
RCV000011251
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Protan defect Pathogenic; Likely pathogenic rs121434621, rs104894913, rs2522587785 RCV002466398
RCV000011252
RCV003449008
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BLUE CONE MONOCHROMACY — GenCC, HPO
GenCC, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLUE CONE MONOCHROMATISM — CTD, Orphanet
CTD, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR BLINDNESS, RED — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORBLINDNESS, PARTIAL, PROTAN SERIES — CTD, HPO
CTD, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (162)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achromatopsia 2 Achromatopsia Pubtator 37097228 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Achromatopsia incomplete, X-linked Achromatopsia Incomplete, X-Linked ORPHANET_DG 15069569
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10469454, 10706136
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10679915, 23728349, 30262461
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 11157802, 15085163, 9226152
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 20541704
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 28625977
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26628108, 29453984
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 10679915, 23728349
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 11090202
★★★★★
★☆☆☆☆
Found in Text Mining only