GNAT1

Protein identityUniProt · HPA

UniProt accession

P11488

Gene

GNAT1

Ensembl

ENSG00000114349

Chromosome

3

Canonical length

350 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mid piece,Principal piece,End piece

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

350 residues, UniProt reviewed canonical sequence.

>P11488|GNAT1
     1  MGAGASAEEK HSRELEKKLK EDAEKDARTV KLLLLGAGES GKSTIVKQMK IIHQDGYSLE
    61  ECLEFIAIIY GNTLQSILAI VRAMTTLNIQ YGDSARQDDA RKLMHMADTI EEGTMPKEMS
   121  DIIQRLWKDS GIQACFERAS EYQLNDSAGY YLSDLERLVT PGYVPTEQDV LRSRVKTTGI
   181  IETQFSFKDL NFRMFDVGGQ RSERKKWIHC FEGVTCIIFI AALSAYDMVL VEDDEVNRMH
   241  ESLHLFNSIC NHRYFATTSI VLFLNKKDVF FEKIKKAHLS ICFPDYDGPN TYEDAGNYIK
   301  VQFLELNMRR DVKEIYSHMT CATDTQNVKF VFDAVTDIII KENLKDCGLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNAT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

1,041 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNAT1.

Disease | AllUniProt

Conditions GNAT1 is implicated in, by any mechanism.

• Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) MIM:610444
• Night blindness, congenital stationary, 1G (CSNB1G) MIM:616389

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 390 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital stationary night blindness 1G
• Congenital stationary night blindness autosomal dominant 3
• Retinitis pigmentosa
• Retinal dystrophy
• Congenital stationary night blindness 1C

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.55

gnomAD pLI

0

gnomAD missense Z

0.72

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adenylate cyclase-modulating G protein-coupled receptor signaling pathway
• background adaptation
• cell population proliferation
• cellular response to electrical stimulus
• detection of chemical stimulus involved in sensory perception of bitter taste
• detection of light stimulus involved in visual perception
• dopamine secretion
• eye photoreceptor cell development
• G protein-coupled opsin signaling pathway
• neural tissue regeneration
• phototransduction, visible light
• regulation of opsin-mediated signaling pathway
• response to light stimulus
• retinal cone cell differentiation
• retinal rod cell differentiation
• sensory perception of umami taste
• signal transduction
• visual behavior
• visual perception
• negative regulation of cyclic-nucleotide phosphodiesterase activity

Molecular functions

• acyl binding
• G protein-coupled receptor binding
• G-protein beta/gamma-subunit complex binding
• GDP binding
• GTP binding
• GTPase activity
• metal ion binding
• protein kinase binding

Cellular components

• apical plasma membrane
• cytoplasm
• cytosol
• heterotrimeric G-protein complex
• membrane
• neuronal cell body
• photoreceptor connecting cilium
• photoreceptor disc membrane
• photoreceptor inner segment
• photoreceptor outer segment
• photoreceptor outer segment membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Guanine nucleotide binding protein, alpha subunit
• G-protein alpha subunit, group I
• G protein alpha subunit, helical insertion
• P-loop containing nucleoside triphosphate hydrolase
• G-protein alpha subunit

KeywordsUniProt

• ADP-ribosylation
• Cell projection
• Congenital stationary night blindness
• GTP-binding
• Lipoprotein
• Magnesium
• Membrane
• Metal-binding
• Myristate
• Nucleotide-binding
• Phosphoprotein
• Sensory transduction
• Transducer
• Vision

InteractionsUniProt · HPA

Protein binding partners of GNAT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PDE6G
• RGS9
• RHO