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

Gene ID: 2792, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (93906567..93911265)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (95143218..95147911)
105.20220307 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. 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
  2. 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
  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. 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
  5. 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

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)

Genotypes

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_2023_10

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

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