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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homozygous in-frame deletion of GNAT1 gene is associated with Stationary night blindness, Oguchi type.
Title: Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
This is the second report of a Nougaret-type congenital stationary night blindness (CSNB) family with the GNAT1 variant. Our novel findings suggest that coexistence of the GNAT1 and biallelic ABCA4 variants is associated with an overlapping phenotype with both Nougaret-type CSNB and cone-rod dystrophy.
Title: Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Our family's ERG showed essentially no rod response, consistent with a Danish GNAT1 pedigree but different from the Nougaret GNAT1 pedigree that shows partial preservation of rod signal. A genetic connection between Complete congenital stationary night blindness and postural orthostatic tachycardia syndrome would be intriguing, but we found no evidence for this.
Title: Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.
These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously.
Title: A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma.
Title: Screening of candidate tumor-suppressor genes in 3p21.3 and investigation of the methylation of gene promoters in oral squamous cell carcinoma.
These data suggest that a homozygous missense mutation in GNAT1 is associated with autosomal recessive stationary night blindness.
Title: GNAT1 associated with autosomal recessive congenital stationary night blindness.
Observational study of genetic testing. (HuGE Navigator)
Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Expression of GNAT1 gene is down-regulated or absent in nasopharyngeal carcinoma tissues.
Title: [Expression, loss of heterozygosity, and methylation of GNAT1 gene in nasopharyngeal carcinoma].

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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

Associated conditions

Description	Tests
Congenital stationary night blindness 1G MedGen: C4225345 OMIM: 616389 GeneReviews: Not available	Compare labs
Congenital stationary night blindness autosomal dominant 3 MedGen: C1864870 OMIM: 610444 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GNAT1__7521 (e-PCR)
- UniSTS:466216

RH78884 (e-PCR)
- UniSTS:12648

NoName (e-PCR)
- UniSTS:481234

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 G-protein beta/gamma-subunit complex binding	IEA Inferred from Electronic Annotation more info
enables GDP binding	ISS Inferred from Sequence or Structural Similarity more info
enables GTP binding	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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 guanyl nucleotide binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide 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
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled receptor 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 adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within background adaptation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell population proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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
acts_upstream_of_or_within detection of light stimulus	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
acts_upstream_of_or_within detection of light stimulus involved in visual perception	IEA Inferred from Electronic Annotation more info
involved_in detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dopamine secretion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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
acts_upstream_of_or_within neural tissue regeneration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within phototransduction	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
acts_upstream_of_or_within response to light intensity	IEA Inferred from Electronic Annotation more info
involved_in response to light intensity	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to light stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to light stimulus	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retinal cone cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retinal rod cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of umami taste	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within visual behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info
involved_in visual perception	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
located_in cell projection	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
part_of heterotrimeric G-protein complex	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation 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 inner segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
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

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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

NG_009831.1 RefSeqGene

Range

5001..11087

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000172.4 → NP_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:30 → 344

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_144499.3 → NP_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:30 → 344

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)