Protein-coding gene in the species Homo sapiens
| 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)[1] |
|---|
| | Band | X F3|X 68.46 cM | Start | 151,564,917 bp[1] |
|---|
| End | 151,591,642 bp[1] |
|---|
|
| RNA expression pattern |
|---|
| Bgee | | Human | Mouse (ortholog) |
|---|
| Top expressed in | - oocyte
- secondary oocyte
- retinal pigment epithelium
- caudate nucleus
- nucleus accumbens
- putamen
- cingulate gyrus
- amygdala
- skin of abdomen
- Brodmann area 9
|
| | Top expressed in | - iris
- retinal pigment epithelium
- hair follicle
- ciliary body
- stria vascularis
- morula
- eyelid
- cornea
- yolk sac
- skin of abdomen
|
| | More reference expression data |
|
|---|
| BioGPS |  | | More reference expression data |
|
|---|
|
| Gene ontology |
|---|
| Molecular function | - L-DOPA binding
- G protein-coupled receptor activity
- signal transducer activity
- dopamine binding
- tyrosine binding
- protein binding
- L-DOPA receptor activity
| | Cellular component | - cytoplasm
- integral component of membrane
- Golgi apparatus
- membrane
- melanosome
- melanosome membrane
- lysosomal membrane
- apical plasma membrane
- lysosome
- plasma membrane
| | Biological process | - eye pigment biosynthetic process
- regulation of melanosome transport
- melanosome localization
- melanosome organization
- melanosome transport
- regulation of calcium-mediated signaling
- regulation of melanosome organization
- calcium-mediated signaling using intracellular calcium source
- phosphatidylinositol-mediated signaling
- signal transduction
- visual perception
- neuropeptide signaling pathway
- G protein-coupled receptor signaling pathway
| | Sources:Amigo / QuickGO |
|
| Orthologs |
|---|
| Species | Human | Mouse |
|---|
| Entrez | | |
|---|
| Ensembl | | |
|---|
| UniProt | | |
|---|
| RefSeq (mRNA) | | |
|---|
| RefSeq (protein) | | |
|---|
| Location (UCSC) | n/a | Chr X: 151.56 – 151.59 Mb |
|---|
| PubMed search | [2] | [3] |
|---|
|
| Wikidata |
| View/Edit Human | View/Edit Mouse |
|
| Ocular albinism type 1 protein |
|---|
| Identifiers |
|---|
| Symbol | Ocular_alb |
|---|
| Pfam | PF02101 |
|---|
| Pfam clan | CL0192 |
|---|
| InterPro | IPR001414 |
|---|
| Available protein structures: |
|---|
| Pfam | structures / ECOD |
|---|
| PDB | RCSB PDB; PDBe; PDBj |
|---|
| PDBsum | structure summary |
|---|
|
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
GPR143 has been shown to interact with GNAI1.[8]
References
- ^ 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.
Further reading
- Oetting WS, King RA (1999). "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism". Hum. Mutat. 13 (2): 99–115. doi:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C. PMID 10094567. S2CID 27315644.
- Oetting WS (2002). "New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene". Hum. Mutat. 19 (2): 85–92. doi:10.1002/humu.10034. PMID 11793467. S2CID 42778083.
- Schnur RE, Trask BJ, van den Engh G, et al. (1989). "An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry". Am. J. Hum. Genet. 45 (5): 706–20. PMC 1683435. PMID 2573275.
- Meindl A, Hosenfeld D, Brückl W, et al. (1993). "Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism". J. Med. Genet. 30 (10): 838–42. doi:10.1136/jmg.30.10.838. PMC 1016566. PMID 8230160.
- Schiaffino MV, Bassi MT, Galli L, et al. (1996). "Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism". Hum. Mol. Genet. 4 (12): 2319–25. doi:10.1093/hmg/4.12.2319. PMID 8634705.
- Schnur RE, Gao M, Wick PA, et al. (1998). "OA1 mutations and deletions in X-linked ocular albinism". Am. J. Hum. Genet. 62 (4): 800–9. doi:10.1086/301776. PMC 1377018. PMID 9529334.
- Rosenberg T, Schwartz M (1999). "X-linked ocular albinism: prevalence and mutations--a national study". Eur. J. Hum. Genet. 6 (6): 570–7. doi:10.1038/sj.ejhg.5200226. PMID 9887374.
- d'Addio M, Pizzigoni A, Bassi MT, et al. (2001). "Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1". Hum. Mol. Genet. 9 (20): 3011–8. doi:10.1093/hmg/9.20.3011. PMID 11115845.
- Bassi MT, Bergen AA, Bitoun P, et al. (2001). "Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America". Hum. Genet. 108 (1): 51–4. doi:10.1007/s004390000440. PMID 11214907. S2CID 40983215.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Touloukian CE, Leitner WW, Schnur RE, et al. (2003). "Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1". J. Immunol. 170 (3): 1579–85. doi:10.4049/jimmunol.170.3.1579. PMC 2241741. PMID 12538723.
- Basrur V, Yang F, Kushimoto T, et al. (2003). "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins". J. Proteome Res. 2 (1): 69–79. doi:10.1021/pr025562r. PMID 12643545.
- Camand O, Boutboul S, Arbogast L, et al. (2003). "Mutational analysis of the OA1 gene in ocular albinism". Ophthalmic Genet. 24 (3): 167–73. doi:10.1076/opge.24.3.167.15605. PMID 12868035. S2CID 23456064.
- Mayeur H, Roche O, Vêtu C, et al. (2006). "Eight previously unidentified mutations found in the OA1 ocular albinism gene". BMC Med. Genet. 7: 41. doi:10.1186/1471-2350-7-41. PMC 1468396. PMID 16646960.
- Sallmann GB, Bray PJ, Rogers S, et al. (2006). "Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC". Ophthalmic Genet. 27 (2): 43–9. doi:10.1080/13816810600677834. PMID 16754205. S2CID 41887499.
- Chi A, Valencia JC, Hu ZZ, et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res. 5 (11): 3135–44. doi:10.1021/pr060363j. PMID 17081065.
External links
- GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked
