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FLASH GENE

Symbol

GNAT1

contributors: mct - updated : 31-08-2017

HGNC name	G protein subunit alpha transducin 1
HGNC id	4393

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	6.09 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see SEMA3F

RNA

TRANSCRIPTS	type	messenger

text	two transcrpit variants encoding the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_144499 9 splicing 3617 NP_653082 39 350 - 2008 18240029 NM_000172 9 splicing 2483 NP_000163 39 350 - 2008 18240029 differring in the 3' UTR compared to variant 1

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial         Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	heart, retina

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

GTPase domain made of three regions named switches 1, 2 and 3 and including the sites for guanine nucleotide binding and effector interaction

secondary structure

an helical domain

conjugated

LipoP , PhosphoP

mono polymer

heteromer , trimer

HOMOLOGY

interspecies	ortholog to murine Gnat1
	homolog to zebrafish gnat1

Homologene

FAMILY	G-alpha family
	G(i/o/t/z) subfamily

CATEGORY

regulatory , signaling

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	acting as a transducer of a visual impulse between rhodopsin and cGMP-phosphodiesterase
	likely a GNAT1-independent phototransduction mechanism downstream of rod opsin can support relatively widespread responses in the mammalian visual system
	PDE6G with RHO, GNAT1, GNB1, are active in phototransduction in rods only

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	component of a trimeric guanine binding protein with beta and gamma subunits
	ADP-ribosylation
	myristate

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP
	guanine nucleotide binding

protein	activating cGMP-phosphodiesterase leading to towing of cGMP concentration and closure of the cGMP dependent cation channels
	as a dominant partner, GNAT1 may potentially modulate the function of other known UNC119-interacting proteins involved in photoreceptor ciliary trafficking and synaptic regulation, in a light-dependent manner
	GNAT1, NPHP3, and PKD1 bind with high affinity to UNC119, whereas a peptide derived from a non-ciliary localizing protein (SRC) has low affinity

cell & other

REGULATION

activated by

colored visual impulses

ASSOCIATED DISORDERS

corresponding disease(s)

CSNB7

related resource

Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

IRD1 and IRD2 mice harbor a nonsense mutation in the Gnat1 gene, resulting in the absence or suppressed expression of the Tralpha protein, which is the likely cause of rod dysfunction in both mutants