GNAT1
Developmental stage
First detected at low levels at approximately postnatal day 7. Subsequently, expression increases rapidly during the first month after birth.
Function
Functions as a signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina (PubMed:22190596). 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 (By similarity).
Involvement in disease
Night blindness, congenital stationary, autosomal dominant 3
CSNBAD3
A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
None
The disease is caused by variants affecting the gene represented in this entry.
Night blindness, congenital stationary, 1G
CSNB1G
An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Tissue Specificity
Rod photoreceptor cells (PubMed:1614872). Predominantly expressed in the retina followed by the ciliary body, iris and retinal pigment epithelium (PubMed:22190596).
Cellular localization
- Cell projection
- Cilium
- Photoreceptor outer segment
- Membrane
- Peripheral membrane protein
- Photoreceptor inner segment
- Localizes mainly in the outer segment in the dark-adapted state, whereas is translocated to the inner part of the photoreceptors in the light-adapted state. During dark-adapted conditions, in the presence of UNC119 mislocalizes from the outer segment to the inner part of rod photoreceptors which leads to decreased photoreceptor damage caused by light.
Alternative names
GNATR, GNAT1, Guanine nucleotide-binding protein G(t) subunit alpha-1, Transducin alpha-1 chain