GNAT1 - G protein subunit alpha transducin 1 Gene

Homo sapiens

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

Gene ID: 2779 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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