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GPR143

Уреди везе

С Википедије, слободне енциклопедије

G protein-coupled receptor 143

Identifikatori

Simboli

GPR143; NYS6; OA1

Vanjski ID

OMIM: 300808MGI: 107193HomoloGene: 230IUPHAR:GPR143GeneCards: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

RefSeq (mRNA)

RefSeq (protein)

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 klan

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

G protein spregnuti receptor 143 jeprotein koji je kod ljudi kodiranGPR143genom.^[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 regulisanmikroftalmija-asociranim transkripcionim faktorom.^[4]^[5]

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

Interakcije

[уреди |уреди извор]

GPR143 formira initekcijeProtein-protein interakcija saGNAI1.^[2]

Reference

[уреди |уреди извор]

^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 ^бSchiaffino 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

[уреди |уреди извор]

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

[уреди |уреди извор]

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 neσ) • 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)

Klasa F:
Frizzled /Zaglađeni

Uvojiti	Frizzled (1,2,3,4,5,6,7,8,9,10)
Zaglađeni	Zaglađeni

Преузето из „https://sr.wikipedia.org/w/index.php?title=GPR143&oldid=30643994”

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