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RGR retinal G protein coupled receptor [ Homo sapiens (human) ]

Gene ID: 5995, updated on 2-Oct-2018

Summary

Official Symbol
RGRprovided by HGNC
Official Full Name
retinal G protein coupled receptorprovided by HGNC
Primary source
HGNC:HGNC:9990
See related
Ensembl:ENSG00000148604 MIM:600342; Vega:OTTHUMG00000018636
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
RP44
Summary
This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 4.9) and testis (RPKM 0.4) See more
Orthologs

Genomic context

See RGR in Genome Data Viewer
Location:
10q23.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (84243741..84259188)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (86004809..86018944)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat, Ig-like and transmembrane domains 2 Neighboring gene leucine rich repeat, Ig-like and transmembrane domains 1 Neighboring gene long intergenic non-protein coding RNA 858 Neighboring gene coiled-coil serine rich protein 2 Neighboring gene ribosomal protein L12 pseudogene 29

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Opsins, organism-specific biosystem (from REACTOME)
    Opsins, organism-specific biosystemOpsins are light-sensitive, 35-55 kDa membrane-bound G protein-coupled receptors of the retinylidene protein family found in photoreceptor cells of the retina. Five classical groups of opsins are inv...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled photoreceptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to light stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
detection of visible light IEA
Inferred from Electronic Annotation
more info
 
phototransduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-chromophore linkage IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
RPE-retinal G protein-coupled receptor
Names
RGR-opsin

NCBI Reference Sequences (RefSeq)

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

  1. NG_009106.1 RefSeqGene

    Range
    5001..19136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012720.1NP_001012738.1  RPE-retinal G protein-coupled receptor isoform 2

    See identical proteins and their annotated locations for NP_001012738.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC022389, U14910
    UniProtKB/Swiss-Prot
    P47804
    Conserved Domains (1) summary
    pfam00001
    Location:34250
    7tm_1; 7 transmembrane receptor (rhodopsin family)
  2. NM_001012722.1NP_001012740.1  RPE-retinal G protein-coupled receptor isoform 3

    See identical proteins and their annotated locations for NP_001012740.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and lacks an exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter than isoform 1.
    Source sequence(s)
    AC022389, BG912392, U14910
    Consensus CDS
    CCDS41543.1
    UniProtKB/Swiss-Prot
    P47804
    UniProtKB/TrEMBL
    A0A0S2Z494
    Related
    ENSP00000350823.5, ENST00000358110.6
    Conserved Domains (1) summary
    pfam00001
    Location:34203
    7tm_1; 7 transmembrane receptor (rhodopsin family)
  3. NM_002921.3NP_002912.2  RPE-retinal G protein-coupled receptor isoform 1

    See identical proteins and their annotated locations for NP_002912.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC022389, BC011349, U14910
    Consensus CDS
    CCDS7374.1
    UniProtKB/Swiss-Prot
    P47804
    UniProtKB/TrEMBL
    A0A0S2Z498
    Related
    ENSP00000352427.4, OTTHUMP00000019996, ENST00000359452.8, OTTHUMT00000049116
    Conserved Domains (1) summary
    cd15072
    Location:17281
    7tmA_Retinal_GPR; retinal G protein coupled receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    84243741..84259188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448118.1XP_024303886.1  RPE-retinal G protein-coupled receptor isoform X1

    Conserved Domains (1) summary
    cd15072
    Location:17211
    7tmA_Retinal_GPR; retinal G protein coupled receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

RNA

  1. XR_002957005.1 RNA Sequence

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