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词条 SLC45A2
释义

  1. Function

  2. See also

  3. References

  4. Further reading

  5. External links

{{Infobox_gene}}Membrane-associated transporter protein (MATP) also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1 is a protein that in humans is encoded by the SLC45A2 gene.[1][2][3]

Function

SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines.[4] A similar sequence gene in medaka fish, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.[3]

In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.[5][6]

SLC45A2 has been found to play a role in pigmentation in several species. In humans, it has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker (AIM) for distinguishing Sri Lankan from European ancestry.[7] SLC45A2 is the so-called cream gene responsible in horses for buckskin, palomino and cremello coloration, while a mutation in this gene underlies the white tiger variant.[8] SLC45A2 was identified as a melanoma tumor-associated antigen with high tumor specificity and reduced potential for autoimmune toxicity, and is currently in clinical development as a target for T-cell based immunotherapy.[9]

See also

  • Solute carrier family

References

1. ^{{cite journal | vauthors = Nakayama K, Fukamachi S, Kimura H, Koda Y, Soemantri A, Ishida T | title = Distinctive distribution of AIM1 polymorphism among major human populations with different skin color | journal = Journal of Human Genetics | volume = 47 | issue = 2 | pages = 92–4 | date = Mar 2002 | pmid = 11916009 | pmc = | doi = 10.1007/s100380200007 }}
2. ^{{cite journal | vauthors = Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH | title = Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4 | journal = American Journal of Human Genetics | volume = 69 | issue = 5 | pages = 981–8 | date = November 2001 | pmid = 11574907 | pmc = 1274374 | doi = 10.1086/324340 }}
3. ^1 {{cite web | title = Entrez Gene: SLC45A2 solute carrier family 45, member 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51151| accessdate = }}
4. ^{{cite journal | vauthors = Harada M, Li YF, El-Gamil M, Rosenberg SA, Robbins PF | title = Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells | journal = Cancer Research | volume = 61 | issue = 3 | pages = 1089–94 | date = February 2001 | pmid = 11221837 | url = http://cancerres.aacrjournals.org/content/61/3/1089.long }}
5. ^{{cite journal | vauthors = Du J, Fisher DE | title = Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF | journal = The Journal of Biological Chemistry | volume = 277 | issue = 1 | pages = 402–6 | date = January 2002 | pmid = 11700328 | doi = 10.1074/jbc.M110229200 }}
6. ^{{cite journal | vauthors = Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell & Melanoma Research | volume = 21 | issue = 6 | pages = 665–76 | date = December 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x }}
7. ^{{cite journal | vauthors = Soejima M, Koda Y | title = Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2 | journal = International Journal of Legal Medicine | volume = 121 | issue = 1 | pages = 36–9 | date = January 2007 | pmid = 16847698 | doi = 10.1007/s00414-006-0112-z }}
8. ^{{cite journal | vauthors = Xu X, Dong GX, Hu XS, Miao L, Zhang XL, Zhang DL, Yang HD, Zhang TY, Zou ZT, Zhang TT, Zhuang Y, Bhak J, Cho YS, Dai WT, Jiang TJ, Xie C, Li R, Luo SJ | title = The genetic basis of white tigers | journal = Current Biology | volume = 23 | issue = 11 | pages = 1031–5 | date = June 2013 | pmid = 23707431 | doi = 10.1016/j.cub.2013.04.054 }}
9. ^{{cite journal | vauthors = Park J, Talukder AH, Lim S, Kim K, Pan K, Melendez B, Bradley SD, Jackson K, Khalili JS, Wang J, Creasy C, Pan BF, Woodman SE, Bernatchez C, Hawke D, Hwu P, Lee KM, Roszik J, Lizee G, Yee C | title = SLC45A2: A melanoma antigen with high tumor selectivity and reduced potential for autoimmune toxicity | journal = Cancer Immunology Research | pages = canimm.0051.2017 | date = June 2017 | pmid = 28630054 | doi = 10.1158/2326-6066.CIR-17-0051 }}

Further reading

{{Refbegin|33em}}
  • {{cite journal | vauthors = Fukamachi S, Shimada A, Shima A | title = Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka | journal = Nature Genetics | volume = 28 | issue = 4 | pages = 381–5 | date = August 2001 | pmid = 11479596 | doi = 10.1038/ng584 }}
  • {{cite journal | vauthors = Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B | title = Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 | journal = Human Mutation | volume = 23 | issue = 2 | pages = 106–10 | date = February 2004 | pmid = 14722913 | doi = 10.1002/humu.10311 }}
  • {{cite journal | vauthors = Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y | title = Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan | journal = American Journal of Human Genetics | volume = 74 | issue = 3 | pages = 466–71 | date = March 2004 | pmid = 14961451 | pmc = 1182260 | doi = 10.1086/382195 }}
  • {{cite journal | vauthors = Yuasa I, Umetsu K, Watanabe G, Nakamura H, Endoh M, Irizawa Y | title = MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids | journal = International Journal of Legal Medicine | volume = 118 | issue = 6 | pages = 364–6 | date = December 2004 | pmid = 15455243 | doi = 10.1007/s00414-004-0490-z }}
  • {{cite journal | vauthors = Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y | title = A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene | journal = The British Journal of Dermatology | volume = 152 | issue = 1 | pages = 174–5 | date = January 2005 | pmid = 15656822 | doi = 10.1111/j.1365-2133.2005.06403.x }}
  • {{cite journal | vauthors = Graf J, Hodgson R, van Daal A | title = Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation | journal = Human Mutation | volume = 25 | issue = 3 | pages = 278–84 | date = March 2005 | pmid = 15714523 | doi = 10.1002/humu.20143 }}
  • {{cite journal | vauthors = Soejima M, Koda Y | title = Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2 | journal = International Journal of Legal Medicine | volume = 121 | issue = 1 | pages = 36–9 | date = January 2007 | pmid = 16847698 | doi = 10.1007/s00414-006-0112-z }}
  • {{cite journal | vauthors = Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, Spinelli M, Mingroni-Netto RC | title = Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? | journal = Journal of Human Genetics | volume = 51 | issue = 8 | pages = 716–20 | year = 2006 | pmid = 16868655 | doi = 10.1007/s10038-006-0003-7 }}
  • {{cite journal | vauthors = Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF | title = Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes | journal = Journal of Proteome Research | volume = 5 | issue = 11 | pages = 3135–44 | date = November 2006 | pmid = 17081065 | doi = 10.1021/pr060363j }}
  • {{cite journal | vauthors = Zühlke C, Criée C, Gemoll T, Schillinger T, Kaesmann-Kellner B | title = Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population | journal = Pigment Cell Research | volume = 20 | issue = 3 | pages = 225–7 | date = June 2007 | pmid = 17516931 | doi = 10.1111/j.1600-0749.2007.00377.x }}
  • {{cite journal | vauthors = Sengupta M, Chaki M, Arti N, Ray K | title = SLC45A2 variations in Indian oculocutaneous albinism patients | journal = Molecular Vision | volume = 13 | issue = | pages = 1406–11 | date = August 2007 | pmid = 17768386 | doi = }}
{{Refend}}

External links

{{Commons category|SLC45A2}}
  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca4 GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4]
{{NLM content}}{{Membrane transport proteins}}{{DEFAULTSORT:Slc45a2}}{{membrane-protein-stub}}

1 : Solute carrier family
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