GPR143

G protein-coupled receptor 143

Identifikatori

GPR143; NYS6; OA1

Vanjski ID

OMIM: 300808 MGI: 107193 HomoloGene: 230 IUPHAR: GPR143 GeneCards: GPR143 Gene

Ontologija gena
Molekularna funkcija	• aktivnost G protein spregnutog receptora • proteinsko vezivanje • dopaminsko vezivanje • aktivnost L-DOPA receptora
Celularna komponenta	• integralno sa ćelijskom membranom • integralno sa membranom • membranska frakcija • citoplazma • lizozomna membrana
Biološki proces	• signalni put G protein spregnutog receptora • biosintetički process očnog pigmenta • prenos signala • vizuelna percepcija

Pregled RNK izražavanja

podaci

Ortolozi

Vrsta

Čovek

Miš

Entrez

4935

18241

Ensembl

ENSG00000101850

ENSMUSG00000025333

UniProt

P51810

P70259

RefSeq (mRNA)

NM_000273.2

NM_010951.3

RefSeq (protein)

NP_000264.2

NP_035081.3

Lokacija (UCSC)

Chr X:
9.69 - 9.75 Mb

Chr X:
149.22 - 149.24 Mb

PubMed pretraga

[1]

[2]

Okularni albinizam tip 1 protein

Identifikatori

Simbol

Ocular_alb

Pfam

PF02101

Pfam klan

CL0192

InterPro

IPR001414

Dostupne proteinske strukture:
Pfam	structures
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

G protein spregnuti receptor 143 je protein koji je kod ljudi kodiran GPR143 genom.^[1]^[2]^[3]

Okularni albinizam tip 1 protein je konzervirani integralni membranski protein sa sedam transmembranskih domena. On je izražen u oku i epidermalnim melanocitima.^[3]

GPR143 gen je regulisan mikroftalmija-asociranim transkripcionim faktorom.^[4]^[5]

L-DOPA je endogeni ligand za OA1.^[6]

Interakcije

GPR143 formira initekcije Protein-protein interakcija sa GNAI1.^[2]

Reference

^ Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A (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. PMID 7647783. doi:10.1038/ng0595-13.
^ ^а ^б 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 (1999). „Ocular albinism: evidence for a defect in an intracellular signal transduction system”. Nat Genet. 23 (1): 108—12. PMID 10471510. doi:10.1038/12715.
^ ^а ^б „Entrez Gene: GPR143 G protein-coupled receptor 143”.
^ 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. PMC 444869 . PMID 15254223. doi:10.1128/MCB.24.15.6550-6559.2004.
^ 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. PMID 19067971. doi:10.1111/j.1755-148X.2008.00505.x.
^ Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (2008). Barsh GS, ур. „L-DOPA is an endogenous ligand for OA1”. PLoS Biol. 6 (9): e236. PMC 2553842 . PMID 18828673. doi:10.1371/journal.pbio.0060236.

Literatura

Oetting WS, King RA (1999). „Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.”. Hum. Mutat. 13 (2): 99—115. PMID 10094567. doi:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C.
Oetting WS (2002). „New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.”. Hum. Mutat. 19 (2): 85—92. PMID 11793467. doi:10.1002/humu.10034.
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. PMC 1016566 . PMID 8230160. doi:10.1136/jmg.30.10.838.
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. PMID 8634705. doi:10.1093/hmg/4.12.2319.
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. PMC 1377018 . PMID 9529334. doi:10.1086/301776.
Rosenberg T, Schwartz M (1999). „X-linked ocular albinism: prevalence and mutations--a national study.”. Eur. J. Hum. Genet. 6 (6): 570—7. PMID 9887374. doi:10.1038/sj.ejhg.5200226.
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. PMID 11115845. doi:10.1093/hmg/9.20.3011.
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. PMID 11214907. doi:10.1007/s004390000440.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. 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. PMID 12643545. doi:10.1021/pr025562r.
Camand O; Boutboul S; Arbogast L; et al. (2003). „Mutational analysis of the OA1 gene in ocular albinism.”. Ophthalmic Genet. 24 (3): 167—73. PMID 12868035. doi:10.1076/opge.24.3.167.15605.
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. PMC 1468396 . PMID 16646960. doi:10.1186/1471-2350-7-41.
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. PMID 16754205. doi:10.1080/13816810600677834.
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. PMID 17081065. doi:10.1021/pr060363j.

Spoljašnje veze

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

Transmembranski receptor: receptori spregnuti s G proteinom

Klasa A: Rodopsinu slični

Neurotransmiter

Adrenergički	α1 (A, B, D) • α2 (A, B, C) • β1 • β2 • β3
Purinski	Adenozinski (A1, A2A, A2B, A3) • P2Y (1, 2, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14)
Serotoninski	(svi osim 5-HT3) 5-HT1 (A, B, D, E, F) • 5-HT2 (A, B, C) • 5-HT (4, 5A, 6, 7)
Drugi	Acetilholin (M1, M2, M3, M4, M5) • Dopamin (D1, D2, D3, D4, D5) • Histamin (H1, H2, H3, H4) • Melatonin (1A, 1B, 1C) • TAAR (1, 2, 3, 5, 6, 8, 9)

Metaboliti i
signalni molekuli

Eikozanoidni	CysLT (1, 2) • LTB4 (1, 2) • FPRL1 • OXE • Prostaglandin (DP (1, 2), EP (1, 2, 3, 4), FP) • Prostaciklin • Tromboksan
Drugi	Žučna kiselina • Kanabinoidni (CB1, CB2, GPR (18, 55, 119)) • EBI2 • Estrogen • Slobodna masna kiselina (1, 2, 3, 4) • Laktat • Lizofosfatidna kiselina (1, 2, 3, 4, 5, 6) • Lizofosfolipid (1, 2, 3, 4, 5, 6, 7, 8) • Niacin (1, 2) • Oksoglutarat • PAF • Sfingozin-1-fosfat (1, 2, 3, 4, 5) • Sukcinat

Peptid

Neuropeptidni

B/W (1, 2) • FF (1, 2) • S • Y (1, 2, 4, 5) • Neuromedin (B, U (1, 2)) • Neurotenzin (1, 2)

Drugi

Anafilatoksin (C3a, C5a) • Angiotenzin (1, 2) • Apelin • Bombezin (BRS3, GRPR, NMBR) • Bradikinin (B1, B2) • Hemokin • Holecistokinin (A, B) • Endotelin (A, B) • Formil peptid (1, 2, 3) • FSH • Galanin (1, 2, 3) • GHB receptor • Gonadotropin-oslobađajući hormon (1, 2) • Grelin • Kispeptin • Luteinizirajući hormon/horiogonadotropin • MAS (1, 1L, D, E, F, G, X1, X2, X3, X4) • Melanokortin (1, 2, 3, 4, 5) • MCHR (1, 2) • Motilin • Opioidni (δ, κ, μ, Nociceptin & ζ, ali ne σ) • Oreksin (1, 2) • Oksitocin • Prokineticin (1, 2) • Prolaktin-oslobađajući peptid • Relaksin (1, 2, 3, 4) • Somatostatin (1, 2, 3, 4, 5) • Tahikinin (1, 2, 3) • Tirotropin • Tirotropin-oslobađajući hormon • Urotenzin-II • Vazopresin (1A, 1B, 2)

Razno

Orfan	GPR (1, 3, 4, 6, 12, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 31, 32, 33, 34, 35, 37, 39, 42, 44, 45, 50, 52, 55, 61, 62, 63, 65, 68, 75, 77, 78, 81, 82, 83, 84, 85, 87, 88, 92, 101, 103, 109A, 109B, 119, 120, 132, 135, 137B, 139, 141, 142, 146, 148, 149, 150, 151, 152, 153, 160, 161, 162, 171, 173, 174, 176, 177, 182, 183)
Drugi	Adrenomedulin • Mirisni • Opsin (3, 4, 5, 1LW, 1MW, 1SW, RGR, RRH) • Proteazom-aktivirani (1, 2, 3, 4) • SREB (1, 2, 3)

Klasa B: Sekretinu slični

Orfan	GPR (56, 64, 97, 98, 110, 111, 112, 113, 114, 115, 116, 123, 124, 125, 126, 128, 133, 143, 144, 155, 157)
Drugi	Moždano specifični angiogenezni inhibitor (1, 2, 3) • Kadherin (1, 2, 3) • Kalcitonin • CALCRL • CD97 • Kortikotropin-oslobađajući hormon (1, 2) • EMR (1, 2, 3) • Glukagon (GR, GIPR, GLP1R, GLP2R) • Hormon rasta • PACAPR1 • GPR • Latrofilin (1, 2, 3, ELTD1) • Metuzalemski protein • Paratiroidni hormon (1, 2) • Sekretin • Vazoaktivni intestinalni peptid (1, 2)

Klasa C: Metabotropni
glutamat / feromon

Ukus	TAS1R (1, 2, 3) • TAS2R (1, 3, 4, 5, 8, 9, 10, 12, 13, 14, 16, 19, 20, 30, 31, 38, 39, 40, 41, 42, 43, 45, 46, 50)
Drugi	Kalcijum-detektujući receptor • GABA B (1, 2) • Glutamatni receptor (Metabotropni glutamat (1, 2, 3, 4, 5, 6, 7, 8)) • GPRC6A • GPR (156, 158, 179) • RAIG (1, 2, 3, 4) • VNR (1, 2, 3, 5)