Function
Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina. Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, such as cGMP-phosphodiesterase.
Gene References into Functions
- Our family's ERG showed essentially no rod response, consistent with a Danish GNAT1 pedigree but different from the Nougaret GNAT1 pedigree that shows partial preservation of rod signal. A genetic connection between Complete congenital stationary night blindness and postural orthostatic tachycardia syndrome would be intriguing, but we found no evidence for this. PMID: 30051303
- These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously. PMID: 26472407
- Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma. PMID: 23292452
- These data suggest that a homozygous missense mutation in GNAT1 is associated with autosomal recessive stationary night blindness. PMID: 22190596
- Expression of GNAT1 gene is down-regulated or absent in nasopharyngeal carcinoma tissues. PMID: 17222360
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Involvement in disease
Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3); Night blindness, congenital stationary, 1G (CSNB1G)
Subcellular Location
Cell projection, cilium, photoreceptor outer segment. Membrane; Peripheral membrane protein. Photoreceptor inner segment.
Protein Families
G-alpha family, G(i/o/t/z) subfamily
Tissue Specificity
Rod photoreceptor cells. Predominantly expressed in the retina followed by the ciliary body, iris and retinal pigment epithelium.
