Gnat1 G protein subunit alpha transducin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gnat1provided by MGI
Official Full Name: G protein subunit alpha transducin 1provided by MGI
Primary source: MGI:MGI:95778
See related: Ensembl:ENSMUSG00000034837 AllianceGenome:MGI:95778
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hg1f; Ird1; Ird2; irdc; irdr; Gnat-1; Tralpha; transducin
Summary: Enables G-protein beta/gamma-subunit complex binding activity and GTPase activity. Acts upstream of or within several processes, including cellular response to electrical stimulus; detection of light stimulus; and eye development. Located in photoreceptor connecting cilium; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in brain; photoreceptor layer outer segment; retina; and retina outer nuclear layer. Human ortholog(s) of this gene implicated in congenital stationary night blindness 1G; congenital stationary night blindness autosomal dominant 3; and night blindness. Orthologous to human GNAT1 (G protein subunit alpha transducin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 8.7) and liver E18 (RPKM 1.6) See more
Orthologs: human all
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Genomic context

Location:: 9 F1; 9 58.86 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (107551636..107556833, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (107674437..107679634, complement)

Chromosome 9 - NC_000075.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Novel Role for UNC119 as an Enhancer of Synaptic Transmission.
Title: A Novel Role for UNC119 as an Enhancer of Synaptic Transmission.
Rod Photoreceptors Avoid Saturation in Bright Light by the Movement of the G Protein Transducin.
Title: Rod Photoreceptors Avoid Saturation in Bright Light by the Movement of the G Protein Transducin.
In conclusion, deletion of transducin1 (and the resulting inhibition of phototransduction in rod cells) inhibits the development of retinal vascular pathology in early diabetic retinopathy.
Title: Transducin1, Phototransduction and the Development of Early Diabetic Retinopathy.
we generated double-mutant (Pde6c(cpfl1/cpfl1)Gnat1(IRD2/IRD2)) mice with absent rod and cone photoreceptor function, and we evaluated their response for restoring rod (GNAT1) function through gene therapy
Title: Retained Plasticity and Substantial Recovery of Rod-Mediated Visual Acuity at the Visual Cortex in Blind Adult Mice with Retinal Dystrophy.
an estimate for the electrical effect from a single transducin-cGMP-phosphodiesterase catalytic subunit molecular complex in intact mouse rods., is reported
Title: Elementary response triggered by transducin in retinal rods.
GNAT1 role in phototransduction of rod photoreceptors
Title: In vivo optophysiology reveals that G-protein activation triggers osmotic swelling and increased light scattering of rod photoreceptors.
Data suggest light reduces oxygen consumption rate (OCR) of retina; light does not affect OCR in retinas of Gnat1-/- knockout mice (phototransduction disabled). Light reduces cGMP in retina; light does not alter cGMP in Gnat1-/- plus Gnat2-/- retina.
Title: Phototransduction Influences Metabolic Flux and Nucleotide Metabolism in Mouse Retina.
Biochemical changes, including reduced transducin protein levels and enhanced transducin GTPase activity, explain the shift in light intensity threshold for Galphat1 translocation in Rs1-knockout mice.
Title: Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation.
The results from shaker1 and whirler mice suggest that defective transducin translocation may be functionally related to light-induced degeneration.
Title: Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration.
ectopically expressed cTalpha 1) forms a heterotrimeric complex with rod Gbeta(1)gamma(1), and substitutes equally for rTalpha in generating photoresponses initiated by either rhodopsin or S-cone opsin
Title: Functional comparison of rod and cone Gα(t) on the regulation of light sensitivity.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Spontaneous (1) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC17675P1 (e-PCR)
- UniSTS:271643

Gnat1 (e-PCR), detects polymorphism
- UniSTS:496677

BB278693 (e-PCR)
- UniSTS:208447

Gene Ontology Provided by MGI

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	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	ISO Inferred from Sequence Orthology more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
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 binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled opsin signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within background adaptation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular response to electrical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of chemical stimulus involved in sensory perception of bitter taste	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within detection of light stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within detection of light stimulus	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within detection of light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of light stimulus involved in visual perception	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dopamine secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within eye photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tissue regeneration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within phototransduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phototransduction, visible light	IBA Inferred from Biological aspect of Ancestor more info
involved_in phototransduction, visible light	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to light intensity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to light intensity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to light stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to light stimulus	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to organic cyclic compound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal cone cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within retinal cone cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retinal cone cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal rod cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within retinal rod cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retinal rod cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of umami taste	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within signal transduction	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within visual behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology 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
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of heterotrimeric G-protein complex	IC Inferred by Curator more info	PubMed
part_of heterotrimeric G-protein complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of heterotrimeric G-protein complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	ISO Inferred from Sequence Orthology 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, alpha transducing 1; heterotrimeric guanine nucleotide-binding protein 1f; transducin alpha-1 chain

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.