SLC45A2
Solute carrier family 45, member 2 | |||||||||||
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Identifiers | |||||||||||
Symbols | SLC45A2; 1A1; AIM1; MATP; SHEP5 | ||||||||||
External IDs | OMIM: 606202 MGI: 2153040 HomoloGene: 9412 GeneCards: SLC45A2 Gene | ||||||||||
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RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | 51151 | 22293 | |||||||||
Ensembl | ENSG00000164175 | ENSMUSG00000022243 | |||||||||
UniProt | Q9UMX9 | P58355 | |||||||||
RefSeq (mRNA) | NM_001012509 | NM_053077 | |||||||||
RefSeq (protein) | NP_001012527 | NP_444307 | |||||||||
Location (UCSC) | Chr 5: 33.94 β 33.98 Mb | Chr 15: 11 β 11.03 Mb | |||||||||
PubMed search | |||||||||||
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. A similar sequence gene in medaka, '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.[4][5]
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.[6] 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.[7]
See also
References
- β Nakayama K, Fukamachi S, Kimura H, Koda Y, Soemantri A, Ishida T (Mar 2002). "Distinctive distribution of AIM1 polymorphism among major human populations with different skin color". J Hum Genet 47 (2): 92β4. doi:10.1007/s100380200007. PMID 11916009.
- β Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH (Oct 2001). "Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4". Am J Hum Genet 69 (5): 981β8. doi:10.1086/324340. PMC 1274374. PMID 11574907.
- β 3.0 3.1 "Entrez Gene: SLC45A2 solute carrier family 45, member 2".
- β Du J, Fisher DE (2002). "Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF". J. Biol. Chem. 277 (1): 402β6. doi:10.1074/jbc.M110229200. PMID 11700328.
- β Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665β76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- β Soejima M, Koda Y (January 2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2". Int. J. Legal Med. 121 (1): 36β9. doi:10.1007/s00414-006-0112-z. PMID 16847698.
- β 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 (June 2013). "The genetic basis of white tigers". Curr. Biol. 23 (11): 1031β5. doi:10.1016/j.cub.2013.04.054. PMID 23707431.
Further reading
- Harada M, Li YF, El-Gamil M et al. (2001). "Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells". Cancer Res. 61 (3): 1089β94. PMID 11221837.
- Fukamachi S, Shimada A, Shima A (2001). "Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka". Nat. Genet. 28 (4): 381β5. doi:10.1038/ng584. PMID 11479596.
- 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): 16899β903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Rundshagen U, ZΓΌhlke C, Opitz S et al. (2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Hum. Mutat. 23 (2): 106β10. doi:10.1002/humu.10311. PMID 14722913.
- Inagaki K, Suzuki T, Shimizu H et al. (2004). "Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan". Am. J. Hum. Genet. 74 (3): 466β71. doi:10.1086/382195. PMC 1182260. PMID 14961451.
- Yuasa I, Umetsu K, Watanabe G et al. (2005). "MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids". Int. J. Legal Med. 118 (6): 364β6. doi:10.1007/s00414-004-0490-z. PMID 15455243.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121β7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Suzuki T, Inagaki K, Fukai K et al. (2005). "A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene". Br. J. Dermatol. 152 (1): 174β5. doi:10.1111/j.1365-2133.2005.06403.x. PMID 15656822.
- Graf J, Hodgson R, van Daal A (2006). "Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation". Hum. Mutat. 25 (3): 278β84. doi:10.1002/humu.20143. PMID 15714523.
- Soejima M, Koda Y (2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2". Int. J. Legal Med. 121 (1): 36β9. doi:10.1007/s00414-006-0112-z. PMID 16847698.
- Lezirovitz K, Nicastro FS, Pardono E et al. (2006). "Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?". J. Hum. Genet. 51 (8): 716β20. doi:10.1007/s10038-006-0003-7. PMID 16868655.
- 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): 3135β44. doi:10.1021/pr060363j. PMID 17081065.
- ZΓΌhlke C, CriΓ©e C, Gemoll T et al. (2007). "Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population". Pigment Cell Res. 20 (3): 225β7. doi:10.1111/j.1600-0749.2007.00377.x. PMID 17516931.
- Sengupta M, Chaki M, Arti N, Ray K (2007). "SLC45A2 variations in Indian oculocutaneous albinism patients". Mol. Vis. 13: 1406β11. PMID 17768386.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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