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

    Gene ID: 2779, updated on 9-Dec-2024

    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
    NEW
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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: 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GDP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables GTP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables GTPase activity TAS
    Traceable Author Statement
    more info
     
    enables acyl binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled opsin signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in background adaptation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of chemical stimulus involved in sensory perception of bitter taste IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of light stimulus involved in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dopamine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye photoreceptor cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cyclic-nucleotide phosphodiesterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phototransduction, visible light IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phototransduction, visible light IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of opsin-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in response to light stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal cone cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal rod cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of umami taste IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in visual behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
     
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in 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
    heterotrimeric guanine nucleotide-binding protein 1F
    rod-type transducin alpha subunit
    transducin alpha-1 chain
    transducin, rod-specific

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)