GPR143

This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y.

Full Name

G protein-coupled receptor 143

Biological Process

Calcium-mediated signaling using intracellular calcium source Source: UniProtKB
Eye pigment biosynthetic process Source: ProtInc
G protein-coupled receptor signaling pathway Source: UniProtKB
Melanosome localization Source: UniProtKB
Melanosome organization Source: UniProtKB
Melanosome transport Source: UniProtKB
Phosphatidylinositol-mediated signaling Source: UniProtKB
Regulation of calcium-mediated signaling Source: UniProtKB
Signal transduction Source: ProtInc
Visual perception Source: ProtInc

Cellular Location

Apical cell membrane; Lysosome membrane; Melanosome membrane. Distributed throughout the endo-melanosomal system but most of endogenous protein is localized in unpigmented stage II melanosomes. Its expression on the apical cell membrane is sensitive to tyrosine (PubMed:18828673).

Involvement in disease

Albinism ocular 1 (OA1):
Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.
Nystagmus congenital X-linked 6 (NYS6):
A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.

Topology

Extracellular: 1-28
Helical: 29-49
Cytoplasmic: 50-78
Helical: 79-99
Extracellular: 100-124
Helical: 125-145
Cytoplasmic: 146-149
Helical: 150-170
Extracellular: 171-191
Helical: 192-212
Cytoplasmic: 213-248
Helical: 249-269
Extracellular: 270-292
Helical: 293-313
Cytoplasmic: 314-404

PTM

Glycosylated.
Phosphorylated.