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

Gene ID: 2792, updated on 7-Jun-2020

Summary

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
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
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

Genomic context

See GNGT1 in Genome Data Viewer
Location:
7q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (93906567..93911265)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (93535820..93540485)

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 G protein subunit gamma 11 Neighboring gene Bet1 golgi vesicular membrane trafficking protein Neighboring gene BET1 antisense RNA 1

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?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

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 beta-subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IEA
Inferred from Electronic Annotation
more info
 
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 
cardiac muscle cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
eye photoreceptor cell development IEA
Inferred from Electronic Annotation
more info
 
protein localization IEA
Inferred from Electronic Annotation
more info
 
rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
G-protein beta/gamma-subunit complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

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_051196.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001329426.2NP_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
    P63211
    Conserved Domains (1) summary
    smart00224
    Location:1274
    GGL; G protein gamma subunit-like motifs
  2. NM_021955.5NP_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
    P63211
    Related
    ENSP00000248572.5, ENST00000248572.10
    Conserved Domains (1) summary
    smart00224
    Location:1274
    GGL; G protein gamma subunit-like motifs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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