GNAT1 Antibody – Rabbit

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]

G-alpha t1: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase. Defects in GNAT1 are the cause of congenital stationary night blindness autosomal dominant type 3 (CSNBAD3); also known as congenital stationary night blindness Nougaret type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. Belongs to the G-alpha family. G(i/o/t/z) subfamily.

Protein type: G protein, heterotrimeric alpha G((i/o/t/z)); G protein; G protein, heterotrimeric

Chromosomal Location of Human Ortholog: 3p21

Cellular Component: photoreceptor outer segment; photoreceptor inner segment; membrane; cell soma; apical plasma membrane; plasma membrane; heterotrimeric G-protein complex; cytosol; photoreceptor connecting cilium

Molecular Function: GTPase activity; signal transducer activity; GDP binding; acyl binding; G-protein-coupled receptor binding; GTP binding; metal ion binding; G-protein beta/gamma-subunit binding; protein kinase binding

Biological Process: phototransduction, visible light; response to light stimulus; sensory perception of umami taste; metabolic process; response to light intensity; detection of chemical stimulus involved in sensory perception of bitter taste; signal transduction; rhodopsin mediated signaling; G-protein signaling, coupled to cAMP nucleotide second messenger; cell proliferation; eye photoreceptor cell development; regulation of rhodopsin mediated signaling; visual perception; retina development in camera-type eye; detection of light stimulus involved in visual perception; positive regulation of cyclic-nucleotide phosphodiesterase activity; negative regulation of cyclic-nucleotide phosphodiesterase activity

Disease: Night Blindness, Congenital Stationary, Type 1g; Night Blindness, Congenital Stationary, Autosomal Dominant 3