GPR143
Sign in to saveAlso known as NYS6, OA1, G protein-coupled receptor 143
G-protein coupled receptor 143, also known as Ocular albinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane domains and similarities with G protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes. This protein encoded by the GPR143 gene, whose variants can lead to Ocular albinism type 1.
Gene data
GPR143- Name
- G protein-coupled receptor 143
- Type
- protein-coding
- Chromosome
- X
- Position
- 9,724,039–9,786,297 (−)
- Aliases
- NYS6, OA1
- Ensembl
- ENSG00000101850
- RefSeq RNA
- NM_000273.3, NM_001440781.1, XM_024452388.2, XM_054327138.1
- RefSeq protein
- NP_000264.2, NP_001427710.1, XP_024308156.1, XP_054183113.1
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. [provided by RefSeq, Dec 2009].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
~1 min read
Encyclopedic overview
4 sectionsContents
- Interactions
- References
- Further reading
- External links
G-protein coupled receptor 143, also known as Ocular albinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane domains and similarities with G protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes. This protein encoded by the GPR143 gene, whose variants can lead to Ocular albinism type 1.
The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.
Excerpted from Wikipedia’s “GPR143” article, available under the CC BY-SA 4.0 licence.