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    GNAT1 G protein subunit alpha transducin 1 [ Homo sapiens (human) ]

    Gene ID: 2779, updated on 12-Oct-2019

    Summary

    Official Symbol
    GNAT1provided by HGNC
    Official Full Name
    G protein subunit alpha transducin 1provided by HGNC
    Primary source
    HGNC:HGNC:4393
    See related
    Ensembl:ENSG00000114349 MIM:139330
    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
    GBT1; GNATR; CSNB1G; CSNBAD3
    Summary
    Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See GNAT1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (50191610..50197696)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50229043..50235129)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 5 Neighboring gene RBM5 antisense RNA 1 Neighboring gene SEMA3F antisense RNA 1 Neighboring gene basic proline-rich protein-like Neighboring gene semaphorin 3F Neighboring gene solute carrier family 38 member 3 Neighboring gene microRNA 5787 Neighboring gene G protein subunit alpha i2

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from BioSystems

    • Activation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
      Activation of the phototransduction cascade, organism-specific biosystemThe photoreceptor cascade starts with light isomerization of 11-cis-retinal (11cRAL) of rhodopsin (RHO) to all-trans-retinal (atRAL), inducing a conformational change in RHO to the active, metarhodop...
    • 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...
    • 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...
    • G-protein activation, organism-specific biosystem (from REACTOME)
      G-protein activation, organism-specific biosystemReceptor activated heterotrimeric G proteins consist of the Galpha and the tightly associated Gbeta-gamma subunits. When a ligand binds to a G protein-coupled receptor, it stabilises a conformation ...
    • G-protein mediated events, organism-specific biosystem (from REACTOME)
      G-protein mediated events, organism-specific biosystemWhen dissociated Galpha-GTP and Gbeta-gamma can activate or inhibit different signalling cascades and effector proteins. The precise pathways depends on the identity of the alpha and beta/gamma subty...
    • 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.
    • Opioid Signalling, organism-specific biosystem (from REACTOME)
      Opioid Signalling, organism-specific biosystemOpioids are chemical substances similar to opiates, the active substances found in opium (morphine, codeine etc.). Opioid action is mediated by the receptors for endogenous opioids; peptides such as...
    • PLC beta mediated events, organism-specific biosystem (from REACTOME)
      PLC beta mediated events, organism-specific biosystemThe phospholipase C (PLC) family of enzymes is both diverse and complex. The isoforms beta, gamma and delta (each have subtypes) make up the members of this family. PLC hydrolyzes phosphatidylinosito...
    • 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: 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GDP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    GTP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTPase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    GTPase activity TAS
    Traceable Author Statement
    more info
     
    acyl binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    detection of chemical stimulus involved in sensory perception of bitter taste IEA
    Inferred from Electronic Annotation
    more info
     
    detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    eye photoreceptor cell development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cyclic-nucleotide phosphodiesterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phototransduction, visible light IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cyclic-nucleotide phosphodiesterase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein folding TAS
    Traceable Author Statement
    more info
     
    regulation of rhodopsin mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    response to light intensity IEA
    Inferred from Electronic Annotation
    more info
     
    response to light stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    rhodopsin mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    sensory perception of umami taste IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
     
    photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor outer segment membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    guanine nucleotide-binding protein G(t) subunit alpha-1
    Names
    guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
    guanine nucleotide-binding protein G(T), alpha-1 subunit
    rod-type transducin alpha subunit
    transducin alpha-1 chain
    transducin, rod-specific

    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_009831.1 RefSeqGene

      Range
      5001..11087
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000172.4NP_000163.2  guanine nucleotide-binding protein G(t) subunit alpha-1

      See identical proteins and their annotated locations for NP_000163.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC000063, AC002077, BC095505, BU727496, BU728210, BX953950
      Consensus CDS
      CCDS2812.1
      UniProtKB/Swiss-Prot
      P11488
      UniProtKB/TrEMBL
      A0A024R2Z1
      Related
      ENSP00000387555.1, ENST00000433068.5
      Conserved Domains (1) summary
      cd00066
      Location:30344
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    2. NM_144499.3NP_653082.1  guanine nucleotide-binding protein G(t) subunit alpha-1

      See identical proteins and their annotated locations for NP_653082.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript variant.
      Source sequence(s)
      AC000063, AC002077, BC095505, BQ637667, BU727496, BX953950
      Consensus CDS
      CCDS2812.1
      UniProtKB/Swiss-Prot
      P11488
      UniProtKB/TrEMBL
      A0A024R2Z1
      Related
      ENSP00000232461.3, ENST00000232461.8
      Conserved Domains (1) summary
      cd00066
      Location:30344
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      50191610..50197696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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