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    RGS9 regulator of G protein signaling 9 [ Homo sapiens (human) ]

    Gene ID: 8787, updated on 18-Sep-2018

    Summary

    Official Symbol
    RGS9provided by HGNC
    Official Full Name
    regulator of G protein signaling 9provided by HGNC
    Primary source
    HGNC:HGNC:10004
    See related
    Ensembl:ENSG00000108370 MIM:604067; Vega:OTTHUMG00000179349
    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
    PERRS; RGS9L
    Summary
    This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
    Expression
    Ubiquitous expression in brain (RPKM 1.6), lung (RPKM 1.2) and 24 other tissues See more
    Orthologs

    Genomic context

    See RGS9 in Genome Data Viewer
    Location:
    17q24.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (65137338..65227703)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (63133456..63223821)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371864 Neighboring gene uncharacterized LOC100507002 Neighboring gene VISTA enhancer hs1517 Neighboring gene zinc finger protein 848, pseudogene Neighboring gene long intergenic non-protein coding RNA 2563 Neighboring gene axin 2

    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

    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
      Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
    • Cocaine addiction, organism-specific biosystem (from KEGG)
      Cocaine addiction, organism-specific biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
    • Cocaine addiction, conserved biosystem (from KEGG)
      Cocaine addiction, conserved biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
    • Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding, organism-specific biosystem (from REACTOME)
      Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding, organism-specific biosystemThe chaperonin complex TRiC/CCT is needed for the proper folding of all five G-protein beta subunits (Wells et al. 2006). TRiC/CCT cooperates with the phosducin-like protein PDCL (commonly known as P...
    • 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...
    • Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
      Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystemTo terminate the single photon response and restore the system to its basal state, the three activated intermediates in phototransduction, rhodopsin (MII), transducin alpha subunit with GTP bound (GN...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Phototransduction, organism-specific biosystem (from KEGG)
      Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
    • Phototransduction, conserved biosystem (from KEGG)
      Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
    • Protein folding, organism-specific biosystem (from REACTOME)
      Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...
    • 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...
    • The phototransduction cascade, organism-specific biosystem (from REACTOME)
      The phototransduction cascade, organism-specific biosystemThe visual pigment (rhodopsin in rods) consists of an 11-cis-retinal (11cRAL) chromophore covalently attached to a GPCR opsin family member via a Schiff base linkage. Upon photon absorption, 11cRAL i...
    • Visual phototransduction, organism-specific biosystem (from REACTOME)
      Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
    • Visual signal transduction: Cones, organism-specific biosystem (from Pathway Interaction Database)
      Visual signal transduction: Cones, organism-specific biosystem
      Visual signal transduction: Cones
    • Visual signal transduction: Rods, organism-specific biosystem (from Pathway Interaction Database)
      Visual signal transduction: Rods, organism-specific biosystem
      Visual signal transduction: Rods

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC26458, MGC111763

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    dopamine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of NMDA glutamate receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein folding TAS
    Traceable Author Statement
    more info
     
    regulation of G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of calcium ion export across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
     
    photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    regulator of G-protein signaling 9
    Names
    regulator of G-protein signalling 9

    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_013021.1 RefSeqGene

      Range
      5001..95366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001081955.2NP_001075424.1  regulator of G-protein signaling 9 isoform 2

      See identical proteins and their annotated locations for NP_001075424.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as RGS9-2, uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks a 3 amino acid segment, compared to isoform 1. Isoforms 1 and 2 include a longer C-terminal domain and are collectively referred to as the long form.
      Source sequence(s)
      AK290535, CK300804, DC322215
      Consensus CDS
      CCDS45764.1
      UniProtKB/Swiss-Prot
      O75916
      Related
      ENSP00000396329.3, OTTHUMP00000261181, ENST00000449996.7, OTTHUMT00000445884
      Conserved Domains (3) summary
      smart00224
      Location:221280
      GGL; G protein gamma subunit-like motifs
      cd08739
      Location:292412
      RGS_RGS9; Regulator of G protein signaling (RGS) domain found in the RGS9 protein
      cd04450
      Location:22109
      DEP_RGS7-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in RGS (regulator of G-protein signaling) proteins of the subfamily R7. This subgroup contains RGS7, RGS6, RGS9 and RGS11. They share a common domain architecture, containing, beside the RGS domain, ...
    2. NM_001165933.1NP_001159405.1  regulator of G-protein signaling 9 isoform 3

      See identical proteins and their annotated locations for NP_001159405.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as RGS9-1, uses an alternate in-frame splice site in the central coding region and differs in the 3' coding region, compared to variant 1. The resulting isoform (3) lacks a 3 amino acid segment and has a shorter and distinct C-terminus, compared to isoform 1. Isoform 3 includes a shorter C-terminal region and is referred to as the short form.
      Source sequence(s)
      AC015821, AC060771
      Related
      ENSP00000463410.1, OTTHUMP00000261180, ENST00000584234.5, OTTHUMT00000445882
      Conserved Domains (3) summary
      smart00224
      Location:221280
      GGL; G protein gamma subunit-like motifs
      cd08739
      Location:292412
      RGS_RGS9; Regulator of G protein signaling (RGS) domain found in the RGS9 protein
      cd04450
      Location:22109
      DEP_RGS7-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in RGS (regulator of G-protein signaling) proteins of the subfamily R7. This subgroup contains RGS7, RGS6, RGS9 and RGS11. They share a common domain architecture, containing, beside the RGS domain, ...
    3. NM_003835.3NP_003826.2  regulator of G-protein signaling 9 isoform 1

      See identical proteins and their annotated locations for NP_003826.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Isoforms 1 and 2 include a longer C-terminal domain and are collectively referred to as the long form.
      Source sequence(s)
      AF493933, AK289876, CK300804, DC322215
      Consensus CDS
      CCDS42373.1
      UniProtKB/Swiss-Prot
      O75916
      UniProtKB/TrEMBL
      A8K1G1
      Related
      ENSP00000262406.9, OTTHUMP00000261182, ENST00000262406.9, OTTHUMT00000445885
      Conserved Domains (3) summary
      smart00224
      Location:224283
      GGL; G protein gamma subunit-like motifs
      cd08739
      Location:295415
      RGS_RGS9; Regulator of G protein signaling (RGS) domain found in the RGS9 protein
      cd04450
      Location:22109
      DEP_RGS7-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in RGS (regulator of G-protein signaling) proteins of the subfamily R7. This subgroup contains RGS7, RGS6, RGS9 and RGS11. They share a common domain architecture, containing, beside the RGS domain, ...

    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_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      65137338..65227703
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525426.3XP_011523728.1  regulator of G-protein signaling 9 isoform X1

      Conserved Domains (2) summary
      smart00224
      Location:2887
      GGL; G protein gamma subunit-like motifs
      cd08739
      Location:99219
      RGS_RGS9; Regulator of G protein signaling (RGS) domain found in the RGS9 protein
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