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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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