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    GNGT1 G protein subunit gamma transducin 1 [ Homo sapiens (human) ]

    Gene ID: 2792, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GNGT1provided by HGNC
    Official Full Name
    G protein subunit gamma transducin 1provided by HGNC
    Primary source
    HGNC:HGNC:4411
    See related
    Ensembl:ENSG00000127928 MIM:189970; AllianceGenome:HGNC:4411
    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
    GNG1; HG3G1
    Summary
    This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]
    Expression
    Restricted expression toward placenta (RPKM 1.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See GNGT1 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (93906567..93911265)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (95143218..95147911)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (93535879..93540577)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tissue factor pathway inhibitor 2 Neighboring gene TFPI2 divergent transcript Neighboring gene uncharacterized LOC105375402 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:93543651-93544850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:93550649-93551284 Neighboring gene G protein subunit gamma 11 Neighboring gene BET1 antisense RNA 1 Neighboring gene Bet1 golgi vesicular membrane trafficking protein Neighboring gene ReSE screen-validated silencer GRCh37_chr7:93618399-93618603

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. G-protein beta gamma dimers. Membrane targeting requires subunit coexpression and intact gamma C-A-A-X domain. Simonds WF, et al. J Biol Chem, 1991 Mar 25. PMID 1706334
    2. Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1). Scherer SW, et al. Genomics, 1996 Jul 1. PMID 8661128
    3. Mutation of the highly conserved Arg165 and Glu168 residues of human Gsalpha disrupts the alphaD-alphaE loop and enhances basal GDP/GTP exchange rate. Hinrichs MV, et al. J Cell Biochem, 2004 Oct 1. PMID 15368366
    4. Structure of the bovine transducin gamma subunit gene and analysis of promoter function in transgenic mice. Tao L, et al. Exp Eye Res, 1993 Apr. PMID 8500562
    5. The amino terminus of the fourth cytoplasmic loop of rhodopsin modulates rhodopsin-transducin interaction. Marin EP, et al. J Biol Chem, 2000 Jan 21. PMID 10636894

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Suggest Gbeta4gamma1 as a modulator of M3 muscarinic receptor signaling.
      Title: Gβ4γ1 as a modulator of M3 muscarinic receptor signalling and novel roles of Gβ1 subunits in the modulation of cellular signalling.
    2. PhLP1 binding stabilizes the Gbeta fold, disrupting interactions with CCT and releasing a PhLP1-Gbeta dimer for assembly with Ggamma.
      Title: Structures of the Gβ-CCT and PhLP1-Gβ-CCT complexes reveal a mechanism for G-protein β-subunit folding and Gβγ dimer assembly.
    3. During corticogenesis, a cilium-transduced, noncanonical IGF-1R-Gbetagamma-phospho(T94)Tctex-1 signaling pathway promotes the proliferation of neural progenitors through modulation of ciliary resorption and G1 length.
      Title: IGF-1 activates a cilium-localized noncanonical Gβγ signaling pathway that regulates cell-cycle progression.
    4. WDR26 is a novel Gbetagamma-binding protein that is required for the efficacy of Gbetagamma signaling and leukocyte migration
      Title: The WD40 repeat protein WDR26 binds Gβγ and promotes Gβγ-dependent signal transduction and leukocyte migration.
    5. Gbetagamma subunits enter in a protein complex with activated Rap1a and its effector Radil; this complex is required downstream of receptor stimulation for the activation of integrins and the positive modulation of cell-matrix adhesiveness.
      Title: G protein betagamma subunits regulate cell adhesion through Rap1a and its effector Radil.
    6. Observational study of genotype prevalence. (HuGE Navigator)
      Title: [Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa].
    7. Gbetagamma mediates UVB-induced human keratinocyte apoptosis by augmenting the ectodomain shedding of HB-EGF, which sequentially activates EGFR and p38
      Title: G Protein betagamma subunits augment UVB-induced apoptosis by stimulating the release of soluble heparin-binding epidermal growth factor from human keratinocytes.
    8. G protein betagamma subunits stimulate type V and VI adenylyl cyclases
      Title: Conditional stimulation of type V and VI adenylyl cyclases by G protein betagamma subunits.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein beta-subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase 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 cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in eye photoreceptor cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phototransduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein G(T) subunit gamma-T1
    Names
    guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
    heterotrimeric guanine nucleotide-binding protein 3G1
    transducin gamma chain

    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.

    Genomic

    1. NG_051196.1 RefSeqGene

      Range
      5060..9758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329426.2 → NP_001316355.1  guanine nucleotide-binding protein G(T) subunit gamma-T1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the same protein as variant 1.
      Source sequence(s)
      BG435040, BQ637754, EL950965
      Consensus CDS
      CCDS5633.1
      UniProtKB/Swiss-Prot
      A4D1H2, O43835, P63211, Q08447, Q16026, Q6LCP6
      Conserved Domains (1) summary
      smart00224
      Location:12 → 74
      GGL; G protein gamma subunit-like motifs

    2. NM_021955.5 → NP_068774.1  guanine nucleotide-binding protein G(T) subunit gamma-T1 precursor

      See identical proteins and their annotated locations for NP_068774.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC029367, BQ637754
      Consensus CDS
      CCDS5633.1
      UniProtKB/Swiss-Prot
      A4D1H2, O43835, P63211, Q08447, Q16026, Q6LCP6
      Related
      ENSP00000248572.5, ENST00000248572.10
      Conserved Domains (1) summary
      smart00224
      Location:12 → 74
      GGL; G protein gamma subunit-like motifs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      93906567..93911265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      95143218..95147911
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P63211.2 GenPept UniProtKB/Swiss-Prot:P63211

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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