GNAT1 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 3p21

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

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

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

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