GNAT1 - G protein subunit alpha transducin 1 Gene

Also Known as GBT1; HG1F; GNATR; CSNB1G; CSNBAD3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2779

About GNAT1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:50,191,610-50,197,696 (from NCBI)

This gene has 5 transcripts (splice variants), 212 orthologues, 15 paralogues and is associated with 6 phenotypes. Low expression observed in reference dataset.

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]

GNAT1 Products (2)

mRNA	Protein	Name
NM_000172.4	NP_000163.2	guanine nucleotide-binding protein G(t) subunit alpha-1
NM_144499.3	NP_653082.1	guanine nucleotide-binding protein G(t) subunit alpha-1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in detection of light stimulus involved in visual perception	IMP IMP: Inferred from mutant phenotype	17584859	GOA
involved in phototransduction, visible light	IMP IMP: Inferred from mutant phenotype	17584859	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in photoreceptor inner segment	IDA IDA: Inferred from direct assay	2534964	GOA
located in photoreceptor outer segment	IDA IDA: Inferred from direct assay	2534964	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GNAT1 Protein Structure

G-alpha

0
100
200
300
350 a.a.

Protein Preferred Names	Protein Names
guanine nucleotide-binding protein G(t) subunit alpha-1	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1

GNAT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811066	GNAT1 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Congenital Stationary Night Blindness Autosomal Dominant 3 CSNBAD3 Night Blindness, Congenital Stationary, Nougaret Type Nougaret Type Congenital Stationary Night Blindness Congenital Stationary Night Blindness Nougaret Type Hemeralopia Congenital Essential Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3
Night Blindness, Congenital Stationary, Type 1g	CSNB1G Congenital Stationary Night Blindness 1g Congenital Stationary Night Blindness Type 1g Night Blindness, Congenital Stationary, 1g Blindness, Night, Stationary, Congenital, Type 1g
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Autosomal Dominant Congenital Stationary Night Blindness	Adcsnb Csnbad Night Blindness, Congenital Stationary, Autosomal Dominant
Night Blindness	Nyctalopia
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital Stationary Night Blindness Autosomal Dominant 1 CSNBAD1 Rhodopsin-Related Congenital Stationary Night Blindness Night Blindness, Congenital Stationary, Rhodopsin-Related Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa 47	RP47 Retinitis Pigmentosa, Type 47
Retinitis Pigmentosa 4	RP4 Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive Retinitis Pigmentosa, Rhodopsin-Related Retinitis Pigmentosa, Type 4
Abnormal Threshold Of Rods	Abnormal Dark Adaptation Curve
Night Blindness, Congenital Stationary, Type 1a	Congenital Stationary Night Blindness 1a CSNB1A Hemeralopia-Myopia Myopia-Night Blindness Night Blindness, Congenital Stationary , 1a, X-Linked Congenital Stationary Night Blindness With Myopia Csnb, Complete, X-Linked Night Blindness, Congenital Stationary, With Myopia Nbm1 Complete Csnb X-Linked Congenital Stationary Night Blindness 1a X-Linked Nbmi Night Blindness, Congenital Stationary, 1a Complete X-Linked Csnb Nyctalopia Xlcsnb X-Linked Congenital Stationary Night Blindness Blindness, Night, Stationary, Congenital, Type 1a Night Blindness X-Linked Csnb Night Blindness, Congenital Stationary, Type 2a
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Retinal Degeneration	Degeneration Of Retina
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05541	GNAT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GNAT1	RGD	RGD:1304683
Felis catus	GNAT1	VGNC	VGNC:102588
Canis familiaris	GNAT1	VGNC	VGNC:41307
Mus musculus	GNAT1	MGD	MGI:95778
Macaca mulatta	GNAT1	VGNC	VGNC:110363
Bos taurus	GNAT1	VGNC	VGNC:29454
Others	GNAT1	NCBI