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

Gene ID: 2779, updated on 7-Oct-2018

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; Vega:OTTHUMG00000156808
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; 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

Genomic context

See GNAT1 in Genome Data Viewer
Location:
3p21.31
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (50191610..50197696)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50229043..50235129)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 5 Neighboring gene RBM5 antisense RNA 1 Neighboring gene SEMA3F antisense RNA 1 Neighboring gene basic proline-rich protein-like Neighboring gene semaphorin 3F Neighboring gene solute carrier family 38 member 3 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Activation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Activation of the phototransduction cascade, organism-specific biosystemThe photoreceptor cascade starts with light isomerization of 11-cis-retinal (11cRAL) of rhodopsin (RHO) to all-trans-retinal (atRAL), inducing a conformational change in RHO to the active, metarhodop...
  • Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
    Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
  • Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding, organism-specific biosystem (from REACTOME)
    Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding, organism-specific biosystemThe chaperonin complex TRiC/CCT is needed for the proper folding of all five G-protein beta subunits (Wells et al. 2006). TRiC/CCT cooperates with the phosducin-like protein PDCL (commonly known as P...
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • G-protein activation, organism-specific biosystem (from REACTOME)
    G-protein activation, organism-specific biosystemReceptor activated heterotrimeric G proteins consist of the Galpha and the tightly associated Gbeta-gamma subunits. When a ligand binds to a G protein-coupled receptor, it stabilises a conformation ...
  • G-protein mediated events, organism-specific biosystem (from REACTOME)
    G-protein mediated events, organism-specific biosystemWhen dissociated Galpha-GTP and Gbeta-gamma can activate or inhibit different signalling cascades and effector proteins. The precise pathways depends on the identity of the alpha and beta/gamma subty...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystemTo terminate the single photon response and restore the system to its basal state, the three activated intermediates in phototransduction, rhodopsin (MII), transducin alpha subunit with GTP bound (GN...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Opioid Signalling, organism-specific biosystem (from REACTOME)
    Opioid Signalling, organism-specific biosystemOpioids are chemical substances similar to opiates, the active substances found in opium (morphine, codeine etc.). Opioid action is mediated by the receptors for endogenous opioids; peptides such as...
  • PLC beta mediated events, organism-specific biosystem (from REACTOME)
    PLC beta mediated events, organism-specific biosystemThe phospholipase C (PLC) family of enzymes is both diverse and complex. The isoforms beta, gamma and delta (each have subtypes) make up the members of this family. PLC hydrolyzes phosphatidylinosito...
  • Phototransduction, organism-specific biosystem (from KEGG)
    Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Phototransduction, conserved biosystem (from KEGG)
    Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Protein folding, organism-specific biosystem (from REACTOME)
    Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • The phototransduction cascade, organism-specific biosystem (from REACTOME)
    The phototransduction cascade, organism-specific biosystemThe visual pigment (rhodopsin in rods) consists of an 11-cis-retinal (11cRAL) chromophore covalently attached to a GPCR opsin family member via a Schiff base linkage. Upon photon absorption, 11cRAL i...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • Visual signal transduction: Rods, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Rods, organism-specific biosystem
    Visual signal transduction: Rods

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-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GDP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
GTP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
GTP binding TAS
Traceable Author Statement
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity NAS
Non-traceable Author Statement
more info
PubMed 
GTPase activity TAS
Traceable Author Statement
more info
 
acyl binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cellular response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
detection of chemical stimulus involved in sensory perception of bitter taste IEA
Inferred from Electronic Annotation
more info
 
detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
eye photoreceptor cell development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cyclic-nucleotide phosphodiesterase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phototransduction, visible light IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cyclic-nucleotide phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
 
protein folding TAS
Traceable Author Statement
more info
 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
response to light intensity IEA
Inferred from Electronic Annotation
more info
 
response to light stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
sensory perception of umami taste IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
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
rod-type transducin alpha subunit
transducin alpha-1 chain
transducin, rod-specific

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_009831.1 RefSeqGene

    Range
    5001..11087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000172.3NP_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
    UniProtKB/TrEMBL
    A0A024R2Z1
    Related
    ENSP00000387555.1, OTTHUMP00000210666, ENST00000433068.5, OTTHUMT00000345957
    Conserved Domains (1) summary
    cd00066
    Location:30344
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
  2. NM_144499.2NP_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
    UniProtKB/TrEMBL
    A0A024R2Z1
    Related
    ENSP00000232461.3, OTTHUMP00000210665, ENST00000232461.7, OTTHUMT00000345956
    Conserved Domains (1) summary
    cd00066
    Location:30344
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

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