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

Gene ID: 2779, updated on 4-Jan-2025

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; AllianceGenome:HGNC:4393
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; HG1F; 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
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Genomic context

See GNAT1 in Genome Data Viewer
Location:
3p21.31
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50191610..50197696)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50220942..50227028)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50229043..50235129)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak4650 silencer Neighboring gene RNA binding motif protein 5 Neighboring gene RBM5 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50157731-50158609 Neighboring gene SEMA3F antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50158610-50159487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50160473-50160973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50162997-50163986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50170449-50170950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50172709-50173300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50177671-50178232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50178233-50178794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50188081-50188752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14381 Neighboring gene basic proline-rich protein-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14382 Neighboring gene Sharpr-MPRA regulatory region 10077 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:50207171-50207381 Neighboring gene semaphorin 3F Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50207797-50208770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50230799-50231315 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50231316-50231832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50231833-50232348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50232401-50232932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50246621-50247149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50250030-50250839 Neighboring gene solute carrier family 38 member 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_70487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50257474-50257974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50257975-50258475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50263389-50264198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14385 Neighboring gene microRNA 5787 Neighboring gene G protein subunit alpha i2

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor binding  
enables G-protein beta/gamma-subunit complex binding  
enables GDP binding  
enables GTP binding  
enables GTPase activity  
enables GTPase activity PubMed 
enables GTPase activity  
enables acyl binding  
enables metal ion binding  
enables protein kinase binding  
Process Evidence Code Pubs
involved_in G protein-coupled opsin signaling pathway  
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway  
involved_in background adaptation  
involved_in cell population proliferation  
involved_in cellular response to electrical stimulus  
involved_in detection of chemical stimulus involved in sensory perception of bitter taste  
involved_in detection of light stimulus involved in visual perception  
involved_in detection of light stimulus involved in visual perception PubMed 
involved_in dopamine secretion  
involved_in eye photoreceptor cell development  
involved_in negative regulation of cyclic-nucleotide phosphodiesterase activity  
involved_in neural tissue regeneration  
involved_in phototransduction, visible light  
involved_in phototransduction, visible light PubMed 
involved_in regulation of opsin-mediated signaling pathway  
involved_in response to light stimulus  
involved_in response to organic cyclic compound  
involved_in retinal cone cell differentiation  
involved_in retinal rod cell differentiation  
involved_in sensory perception of umami taste  
involved_in signal transduction PubMed 
involved_in visual behavior  
involved_in visual perception PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane  
is_active_in cytoplasm  
located_in cytosol  
part_of heterotrimeric G-protein complex  
located_in membrane  
located_in membrane PubMed 
located_in neuronal cell body  
located_in photoreceptor connecting cilium  
located_in photoreceptor disc membrane  
located_in photoreceptor inner segment PubMed 
located_in photoreceptor outer segment PubMed 
located_in photoreceptor outer segment membrane  
located_in plasma membrane  

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
heterotrimeric guanine nucleotide-binding protein 1F
rod-type transducin alpha subunit
transducin alpha-1 chain
transducin, rod-specific

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_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, Q4VBN2
    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, Q4VBN2
    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: 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_000003.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    50220942..50227028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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