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Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

Ocular albinism type 1 protein
Ocular albinism type 1 protein
Identifiers
Symbol	Ocular_alb
Pfam	PF02101
Pfam clan	CL0192
InterPro	IPR001414
Pfam
Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

GPR143
Identifiers
Aliases	GPR143, NYS6, OA1, G protein-coupled receptor 143
External IDs	OMIM: 300808 MGI: 107193 HomoloGene: 230 GeneCards: GPR143
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	151,591,642 bp
RNA expression pattern
	Top expressed in
	Top expressed in
	More reference expression data
	More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
	Sources:Amigo / QuickGO
Orthologs
	4935
	18241
	n/a
	ENSMUSG00000025333
	P51810
	P70259
	NM_000273
	NM_010951
	NP_000264
	NP_035081
	Wikidata
View/Edit Human	View/Edit Mouse

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.^[4]^[5]^[6] This protein encoded by the GPR143 gene,^[7]^[8] whose variants can lead to Ocular albinism type 1.^[9]

The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.^[10]^[11]

L-DOPA is an endogenous ligand for OA1.^[12]

Interactions[edit]

GPR143 has been shown to interact with GNAI1.^[8]

References[edit]

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025333 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: GPR143 G protein-coupled receptor 143".
^ Palmisano, Ilaria; Bagnato, Paola; Palmigiano, Angela; Innamorati, Giulio; Rotondo, Giuseppe; Altimare, Domenico; Venturi, Consuelo; Sviderskaya, Elena V; Piccirillo, Rosanna; Coppola, Massimiliano; Marigo, Valeria; Incerti, Barbara; Ballabio, Andrea; Surace, Enrico M; Tacchetti, Carlo (2008-11-01). "The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells". Human Molecular Genetics. 17 (22): 3487–3501. doi:10.1093/hmg/ddn241. ISSN 1460-2083. PMC 2572695. PMID 18697795.
^ Innamorati, Giulio; Piccirillo, Rosanna; Bagnato, Paola; Palmisano, Ilaria; Schiaffino, Maria Vittoria (2006-04-01). "The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor". Pigment Cell Research. 19 (2): 125–135. doi:10.1111/j.1600-0749.2006.00292.x. ISSN 1600-0749. PMC 1459912. PMID 16524428.
^ Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A (Sep 1995). "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome". Nat Genet. 10 (1): 13–9. doi:10.1038/ng0595-13. PMID 7647783. S2CID 205342065.
^ ^a ^b Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A (Sep 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nat Genet. 23 (1): 108–12. doi:10.1038/12715. PMID 10471510. S2CID 6604295.
^ Schiaffino, M V; d'Addio, M; Alloni, A; Baschirotto, C; Valetti, C; Cortese, K; Puri, C; Bassi, M T; Colla, C; De Luca, M; Tacchetti, C; Ballabio, A (1999-09-01). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108–112. doi:10.1038/12715. ISSN 1546-1718. PMID 10471510. S2CID 6604295.
^ Vetrini F, Auricchio A, Du J, et al. (2004). "The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis". Mol. Cell. Biol. 24 (15): 6550–9. doi:10.1128/MCB.24.15.6550-6559.2004. PMC 444869. PMID 15254223.
^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.
^ Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh GS (ed.). "L-DOPA is an endogenous ligand for OA1". PLOS Biol. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673.

External links[edit]

GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000025333 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: GPR143 G protein-coupled receptor 143".

[5] Palmisano, Ilaria; Bagnato, Paola; Palmigiano, Angela; Innamorati, Giulio; Rotondo, Giuseppe; Altimare, Domenico; Venturi, Consuelo; Sviderskaya, Elena V; Piccirillo, Rosanna; Coppola, Massimiliano; Marigo, Valeria; Incerti, Barbara; Ballabio, Andrea; Surace, Enrico M; Tacchetti, Carlo (2008-11-01). "The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells". Human Molecular Genetics. 17 (22): 3487–3501. doi:10.1093/hmg/ddn241. ISSN 1460-2083. PMC 2572695. PMID 18697795.

[6] Innamorati, Giulio; Piccirillo, Rosanna; Bagnato, Paola; Palmisano, Ilaria; Schiaffino, Maria Vittoria (2006-04-01). "The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor". Pigment Cell Research. 19 (2): 125–135. doi:10.1111/j.1600-0749.2006.00292.x. ISSN 1600-0749. PMC 1459912. PMID 16524428.

[pmid7647783-7] Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A (Sep 1995). "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome". Nat Genet. 10 (1): 13–9. doi:10.1038/ng0595-13. PMID 7647783. S2CID 205342065.

[pmid10471510-8] Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A (Sep 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nat Genet. 23 (1): 108–12. doi:10.1038/12715. PMID 10471510. S2CID 6604295.

[9] Schiaffino, M V; d'Addio, M; Alloni, A; Baschirotto, C; Valetti, C; Cortese, K; Puri, C; Bassi, M T; Colla, C; De Luca, M; Tacchetti, C; Ballabio, A (1999-09-01). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108–112. doi:10.1038/12715. ISSN 1546-1718. PMID 10471510. S2CID 6604295.

[pmid15254223-10] Vetrini F, Auricchio A, Du J, et al. (2004). "The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis". Mol. Cell. Biol. 24 (15): 6550–9. doi:10.1128/MCB.24.15.6550-6559.2004. PMC 444869. PMID 15254223.

[pmidunknown-11] Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

[pmid18828673-12] Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh GS (ed.). "L-DOPA is an endogenous ligand for OA1". PLOS Biol. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673.

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