GPR143: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
{{Infobox protein family
| update_page = yes
| Symbol = Ocular_alb
| require_manual_inspection = no
| Name = Ocular albinism type 1 protein
| update_protein_box = yes
| image =
| update_summary = yes
| width =
| update_citations = yes
| caption =
| Pfam = PF02101
| Pfam_clan = CL0192
| InterPro = IPR001414
| SMART =
| PROSITE =
| MEROPS =
| SCOP =
| TCDB =  
| OPM family =  
| OPM protein =  
| CAZy =  
| CDD =  
}}
}}
'''G-protein coupled receptor 143''' is a [[protein]] encoded by the ''GPR143'' [[gene]] in humans.<ref name="pmid7647783">{{cite journal |vauthors=Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A | title = Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome | journal = Nat Genet | volume = 10 | issue = 1 | pages = 13–9 |date=Sep 1995 | pmid = 7647783 | pmc =  | doi = 10.1038/ng0595-13 }}</ref><ref name="pmid10471510">{{cite journal |vauthors=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 | title = Ocular albinism: evidence for a defect in an intracellular signal transduction system | journal = Nat Genet | volume = 23 | issue = 1 | pages = 108–12 |date=Sep 1999 | pmid = 10471510 | pmc =  | doi = 10.1038/12715 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GPR143 G protein-coupled receptor 143| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4935| accessdate = }}</ref>


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
[[Ocular albinism]] type 1 protein is a conserved integral membrane protein with seven transmembrane domains.  It is expressed in the eye and epidermal melanocytes.<ref name="entrez"/>
{{GNF_Protein_box
 
| image = 
The GPR143 gene is regulated by the [[Microphthalmia-associated transcription factor]].<ref name="pmid15254223">{{cite journal |vauthors=Vetrini F, Auricchio A, Du J | title = The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis | journal = Mol. Cell. Biol. | volume = 24 | issue = 15 | pages = 6550–9 | year = 2004 | pmid = 15254223 | doi = 10.1128/MCB.24.15.6550-6559.2004 | pmc = 444869 |display-authors=etal}}</ref><ref name="pmidunknown">{{cite journal |vauthors=Hoek KS, Schlegel NC, Eichhoff OM | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res. | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971| doi = 10.1111/j.1755-148X.2008.00505.x |display-authors=etal}}</ref>
| image_source = 
 
| PDB =
[[L-DOPA]] is an endogenous ligand for OA1.<ref name="pmid18828673">{{cite journal | vauthors = Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS | editor1-last = Barsh | editor1-first = Gregory S | title = L-DOPA is an endogenous ligand for OA1 | journal = PLoS Biol. | volume = 6 | issue = 9 | pages = e236 |date=September 2008 | pmid = 18828673 | pmc = 2553842 | doi = 10.1371/journal.pbio.0060236 | url = | issn = }}</ref>
| Name = G protein-coupled receptor 143
| HGNCid = 20145
| Symbol = GPR143
| AltSymbols =; OA1
| OMIM = 300500
| ECnumber = 
| Homologene = 230
| MGIid = 107193
| GeneAtlas_image1 = PBB_GE_GPR143_206696_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0004930 |text = G-protein coupled receptor activity}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006726 |text = eye pigment biosynthetic process}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0007601 |text = visual perception}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4935
    | Hs_Ensembl = ENSG00000101850
    | Hs_RefseqProtein = NP_000264
    | Hs_RefseqmRNA = NM_000273
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 9653386
    | Hs_GenLoc_end = 9694004
    | Hs_Uniprot = P51810
    | Mm_EntrezGene = 18241
    | Mm_Ensembl = ENSMUSG00000025333
    | Mm_RefseqmRNA = NM_010951
    | Mm_RefseqProtein = NP_035081
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 148122702
    | Mm_GenLoc_end = 148149362
    | Mm_Uniprot = Q549B6
  }}
}}
'''G protein-coupled receptor 143''', also known as '''GPR143''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GPR143 G protein-coupled receptor 143| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4935| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==Interactions==
{{PBB_Summary
GPR143 has been shown to [[Protein-protein interaction|interact]] with [[GNAI1]].<ref name=pmid10471510 />
| section_title =
| summary_text = Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains.  It is expressed in the eye and epidermal melanocytes.<ref name="entrez">{{cite web | title = Entrez Gene: GPR143 G protein-coupled receptor 143| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4935| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading
*{{Cite journal  |vauthors=Oetting WS, King RA |title=Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. |journal=Hum. Mutat. |volume=13 |issue= 2 |pages= 99–115 |year= 1999 |pmid= 10094567 |doi= 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C }}
| citations =
*{{Cite journal  | author=Oetting WS |title=New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. |journal=Hum. Mutat. |volume=19 |issue= 2 |pages= 85–92 |year= 2002 |pmid= 11793467 |doi= 10.1002/humu.10034 }}
*{{cite journal  | author=Oetting WS, King RA |title=Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. |journal=Hum. Mutat. |volume=13 |issue= 2 |pages= 99-115 |year= 1999 |pmid= 10094567 |doi= 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C }}
*{{Cite journal  |vauthors=Schnur RE, Trask BJ, van den Engh G |title=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. |journal=Am. J. Hum. Genet. |volume=45 |issue= 5 |pages= 706–20 |year= 1989 |pmid= 2573275 |doi=  | pmc=1683435  |display-authors=etal}}
*{{cite journal  | author=Oetting WS |title=New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. |journal=Hum. Mutat. |volume=19 |issue= 2 |pages= 85-92 |year= 2002 |pmid= 11793467 |doi= 10.1002/humu.10034 }}
*{{Cite journal  |vauthors=Meindl A, Hosenfeld D, Brückl W |title=Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. |journal=J. Med. Genet. |volume=30 |issue= 10 |pages= 838–42 |year= 1993 |pmid= 8230160 |doi=10.1136/jmg.30.10.838  | pmc=1016566 |display-authors=etal}}
*{{cite journal  | author=Schnur RE, Trask BJ, van den Engh G, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=45 |issue= 5 |pages= 706-20 |year= 1989 |pmid= 2573275 |doi= }}
*{{Cite journal  |vauthors=Schiaffino MV, Bassi MT, Galli L |title=Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. |journal=Hum. Mol. Genet. |volume=4 |issue= 12 |pages= 2319–25 |year= 1996 |pmid= 8634705 |doi=10.1093/hmg/4.12.2319 |display-authors=etal}}
*{{cite journal | author=Bassi MT, Schiaffino MV, Renieri A, ''et al.'' |title=Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. |journal=Nat. Genet. |volume=10 |issue= 1 |pages= 13-9 |year= 1995 |pmid= 7647783 |doi= 10.1038/ng0595-13 }}
*{{Cite journal  |vauthors=Schnur RE, Gao M, Wick PA |title=OA1 mutations and deletions in X-linked ocular albinism. |journal=Am. J. Hum. Genet. |volume=62 |issue= 4 |pages= 800–9 |year= 1998 |pmid= 9529334 |doi=10.1086/301776 | pmc=1377018  |display-authors=etal}}
*{{cite journal  | author=Meindl A, Hosenfeld D, Brückl W, ''et al.'' |title=Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. |journal=J. Med. Genet. |volume=30 |issue= 10 |pages= 838-42 |year= 1993 |pmid= 8230160 |doi=  }}
*{{Cite journal  |vauthors=Rosenberg T, Schwartz M |title=X-linked ocular albinism: prevalence and mutations--a national study. |journal=Eur. J. Hum. Genet. |volume=6 |issue= 6 |pages= 570–7 |year= 1999 |pmid= 9887374 |doi= 10.1038/sj.ejhg.5200226 }}
*{{cite journal  | author=Schiaffino MV, Bassi MT, Galli L, ''et al.'' |title=Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. |journal=Hum. Mol. Genet. |volume=4 |issue= 12 |pages= 2319-25 |year= 1996 |pmid= 8634705 |doi=  }}
*{{Cite journal  |vauthors=d'Addio M, Pizzigoni A, Bassi MT |title=Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. |journal=Hum. Mol. Genet. |volume=9 |issue= 20 |pages= 3011–8 |year= 2001 |pmid= 11115845 |doi=10.1093/hmg/9.20.3011 |display-authors=etal}}
*{{cite journal  | author=Schnur RE, Gao M, Wick PA, ''et al.'' |title=OA1 mutations and deletions in X-linked ocular albinism. |journal=Am. J. Hum. Genet. |volume=62 |issue= 4 |pages= 800-9 |year= 1998 |pmid= 9529334 |doi=  }}
*{{Cite journal  |vauthors=Bassi MT, Bergen AA, Bitoun P |title=Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. |journal=Hum. Genet. |volume=108 |issue= 1 |pages= 51–4 |year= 2001 |pmid= 11214907 |doi=10.1007/s004390000440 |display-authors=etal}}
*{{cite journal  | author=Rosenberg T, Schwartz M |title=X-linked ocular albinism: prevalence and mutations--a national study. |journal=Eur. J. Hum. Genet. |volume=6 |issue= 6 |pages= 570-7 |year= 1999 |pmid= 9887374 |doi= 10.1038/sj.ejhg.5200226 }}
*{{Cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Schiaffino MV, d'Addio M, Alloni A, ''et al.'' |title=Ocular albinism: evidence for a defect in an intracellular signal transduction system. |journal=Nat. Genet. |volume=23 |issue= 1 |pages= 108-12 |year= 1999 |pmid= 10471510 |doi= 10.1038/12715 }}
*{{Cite journal  |vauthors=Touloukian CE, Leitner WW, Schnur RE |title=Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1. |journal=J. Immunol. |volume=170 |issue= 3 |pages= 1579–85 |year= 2003 |pmid= 12538723 |doi=  10.4049/jimmunol.170.3.1579| pmc=2241741  |display-authors=etal}}
*{{cite journal  | author=d'Addio M, Pizzigoni A, Bassi MT, ''et al.'' |title=Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. |journal=Hum. Mol. Genet. |volume=9 |issue= 20 |pages= 3011-8 |year= 2001 |pmid= 11115845 |doi=  }}
*{{Cite journal  |vauthors=Basrur V, Yang F, Kushimoto T |title=Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. |journal=J. Proteome Res. |volume=2 |issue= 1 |pages= 69–79 |year= 2003 |pmid= 12643545 |doi=10.1021/pr025562r |display-authors=etal}}
*{{cite journal  | author=Bassi MT, Bergen AA, Bitoun P, ''et al.'' |title=Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. |journal=Hum. Genet. |volume=108 |issue= 1 |pages= 51-4 |year= 2001 |pmid= 11214907 |doi=  }}
*{{Cite journal  |vauthors=Camand O, Boutboul S, Arbogast L |title=Mutational analysis of the OA1 gene in ocular albinism. |journal=Ophthalmic Genet. |volume=24 |issue= 3 |pages= 167–73 |year= 2003 |pmid= 12868035 |doi=10.1076/opge.24.3.167.15605 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{Cite journal  |vauthors=Mayeur H, Roche O, Vêtu C |title=Eight previously unidentified mutations found in the OA1 ocular albinism gene. |journal=BMC Med. Genet. |volume=7|pages= 41 |year= 2006 |pmid= 16646960 |doi= 10.1186/1471-2350-7-41 | pmc=1468396 |display-authors=etal}}
*{{cite journal  | author=Touloukian CE, Leitner WW, Schnur RE, ''et al.'' |title=Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1. |journal=J. Immunol. |volume=170 |issue= 3 |pages= 1579-85 |year= 2003 |pmid= 12538723 |doi=  }}
*{{Cite journal  |vauthors=Sallmann GB, Bray PJ, Rogers S |title=Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. |journal=Ophthalmic Genet. |volume=27 |issue= 2 |pages= 43–9 |year= 2006 |pmid= 16754205 |doi= 10.1080/13816810600677834 |display-authors=etal}}
*{{cite journal  | author=Basrur V, Yang F, Kushimoto T, ''et al.'' |title=Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. |journal=J. Proteome Res. |volume=2 |issue= 1 |pages= 69-79 |year= 2003 |pmid= 12643545 |doi=  }}
*{{Cite journal  |vauthors=Chi A, Valencia JC, Hu ZZ |title=Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. |journal=J. Proteome Res. |volume=5 |issue= 11 |pages= 3135–44 |year= 2007 |pmid= 17081065 |doi= 10.1021/pr060363j |display-authors=etal}}
*{{cite journal  | author=Camand O, Boutboul S, Arbogast L, ''et al.'' |title=Mutational analysis of the OA1 gene in ocular albinism. |journal=Ophthalmic Genet. |volume=24 |issue= 3 |pages= 167-73 |year= 2003 |pmid= 12868035 |doi=  }}
{{Refend}}
*{{cite journal  | author=Mayeur H, Roche O, Vêtu C, ''et al.'' |title=Eight previously unidentified mutations found in the OA1 ocular albinism gene. |journal=BMC Med. Genet. |volume=7 |issue=  |pages= 41 |year= 2006 |pmid= 16646960 |doi= 10.1186/1471-2350-7-41 }}
 
*{{cite journal  | author=Sallmann GB, Bray PJ, Rogers S, ''et al.'' |title=Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. |journal=Ophthalmic Genet. |volume=27 |issue= 2 |pages= 43-9 |year= 2006 |pmid= 16754205 |doi= 10.1080/13816810600677834 }}
==External links==
*{{cite journal  | author=Chi A, Valencia JC, Hu ZZ, ''et al.'' |title=Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. |journal=J. Proteome Res. |volume=5 |issue= 11 |pages= 3135-44 |year= 2007 |pmid= 17081065 |doi= 10.1021/pr060363j }}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa  GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked]
}}
{{refend}}


{{membrane-protein-stub}}
{{G protein-coupled receptors}}
{{G protein-coupled receptors}}
[[Category:G protein coupled receptors]]
 
{{WikiDoc Sources}}
{{DEFAULTSORT:Gpr143}}
[[Category:G protein-coupled receptors]]
{{transmembranereceptor-stub}}

Latest revision as of 18:00, 24 September 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human
Ocular albinism type 1 protein
Identifiers
SymbolOcular_alb
PfamPF02101
Pfam clanCL0192
InterProIPR001414

G-protein coupled receptor 143 is a protein encoded by the GPR143 gene in humans.[1][2][3]

Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes.[3]

The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.[4][5]

L-DOPA is an endogenous ligand for OA1.[6]

Interactions

GPR143 has been shown to interact with GNAI1.[2]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 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.
  3. ↑ 3.0 3.1 "Entrez Gene: GPR143 G protein-coupled receptor 143".
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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

External links

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