RRH retinal pigment epithelium-derived rhodopsin homolog [Homo sapiens (human)] - Gene

Summary

Official Symbol: RRHprovided by HGNC
Official Full Name: retinal pigment epithelium-derived rhodopsin homologprovided by HGNC
Primary source: HGNC:HGNC:10450
See related: Ensembl:ENSG00000180245 MIM:605224; AllianceGenome:HGNC:10450
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
Summary: Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 4q25

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (109827972..109844942)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (113130031..113147001)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (110749128..110766098)

Chromosome 4 - NC_000004.12 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: 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?

By using chimeric mutant peropsins, it was found that peropsin potentially generates an "active form" that drives G-protein signalling in the dark by binding to all-trans-retinal, and that the active form photo-converts to an inactive form containing 11-cis-retinal.
Title: An all-trans-retinal-binding opsin peropsin as a potential dark-active and light-inactivated G protein-coupled receptor.
Observational study of gene-disease association. (HuGE Navigator)
Title: A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
Peropsin gene is not a common cause of retinitis pigmentosa or some related retinal degenerations, at least in the set of patients we analyzed.
Title: Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.

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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

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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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 G protein-coupled receptor activity	TAS Traceable Author Statement 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 visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: visual pigment-like receptor peropsin

Names: peropsin

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.

mRNA and Protein(s)

NM_006583.5 → NP_006574.1 visual pigment-like receptor peropsin

See identical proteins and their annotated locations for NP_006574.1

Status: REVIEWED

Source sequence(s)

AC126283

Consensus CDS

CCDS3687.1

UniProtKB/Swiss-Prot

A1A4V2, O14718, Q7RTS4

Related

ENSP00000314992.4, ENST00000317735.7

Conserved Domains (1) summary

cd15073
Location:26 → 305

7tmA_Peropsin; retinal pigment epithelium-derived rhodopsin homolog, member of the class A family of seven-transmembrane G protein-coupled receptors