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 SLC45A2gene.[5][6][7]
SLC45A2 is a transporter protein that mediates melanin synthesis. It may regulate the pH of the melanosome, affecting tyrosinase activity.[8] SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines.[9] 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.[7] Protein expression is localized to the melanosome, and analysis of the by knockdown of RNA expression leads to altered melanosome pH potentially altering tyrosinase function by affecting copper binding.[10]
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.[13] Mutations in the gene have also been identified as the cause of human Type IV oculocutaneous albinism.[14] 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.[15] In dogs a mutation to this gene causes white fur, pink skin, and blue eyes.[16]
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.[17]
^ abcGRCm38: Ensembl release 89: ENSMUSG00000022243 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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". Journal of Human Genetics. 47 (2): 92–4. doi:10.1007/s100380200007. PMID 11916009.
^Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH (November 2001). "Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4". American Journal of Human Genetics. 69 (5): 981–8. doi:10.1086/324340. PMC1274374. PMID 11574907.
^ ab"Entrez Gene: SLC45A2 solute carrier family 45, member 2".
^Mariat, Denis; Taourit, Sead; Guérin, Gérard (2003). "A mutation in the MATP gene causes the cream coat colour in the horse". Genetics Selection Evolution. 35 (1): 119–133. doi:10.1186/1297-9686-35-1-119. PMC2732686. PMID 12605854.
^Harada M, Li YF, El-Gamil M, Rosenberg SA, Robbins PF (February 2001). "Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells". Cancer Research. 61 (3): 1089–94. PMID 11221837.
^Bin BH, Bhin J, Yang SH, Shin M, Nam YJ, Choi DH, et al. (2015). "Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity". PLOS ONE. 10 (6): e0129273. Bibcode:2015PLoSO..1029273B. doi:10.1371/journal.pone.0129273. PMC4461305. PMID 26057890.
^Du J, Fisher DE (January 2002). "Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF". The Journal of Biological Chemistry. 277 (1): 402–6. doi:10.1074/jbc.M110229200. PMID 11700328.
^Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, et al. (December 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.
^Soejima M, Koda Y (January 2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2". International Journal of Legal Medicine. 121 (1): 36–9. doi:10.1007/s00414-006-0112-z. PMID 16847698. S2CID 11192076.
^Xu X, Dong GX, Hu XS, Miao L, Zhang XL, Zhang DL, et al. (June 2013). "The genetic basis of white tigers". Current Biology. 23 (11): 1031–5. doi:10.1016/j.cub.2013.04.054. PMID 23707431.
^Wijesena HR, Schmutz SM (May–June 2015). "A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds". The Journal of Heredity. 106 (3): 285–8. doi:10.1093/jhered/esv008. PMID 25790827.
^Park J, Talukder AH, Lim SA, Kim K, Pan K, Melendez B, et al. (August 2017). "SLC45A2: A Melanoma Antigen with High Tumor Selectivity and Reduced Potential for Autoimmune Toxicity". Cancer Immunology Research. 5 (8): 618–629. doi:10.1158/2326-6066.CIR-17-0051. PMC6087543. PMID 28630054.
Further readingedit
Fukamachi S, Shimada A, Shima A (August 2001). "Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka". Nature Genetics. 28 (4): 381–5. doi:10.1038/ng584. PMID 11479596. S2CID 25285273.
Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B (February 2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Human Mutation. 23 (2): 106–10. doi:10.1002/humu.10311. PMID 14722913. S2CID 40612241.
Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, et al. (March 2004). "Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan". American Journal of Human Genetics. 74 (3): 466–71. doi:10.1086/382195. PMC1182260. PMID 14961451.
Yuasa I, Umetsu K, Watanabe G, Nakamura H, Endoh M, Irizawa Y (December 2004). "MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids". International Journal of Legal Medicine. 118 (6): 364–6. doi:10.1007/s00414-004-0490-z. PMID 15455243. S2CID 35270576.
Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y (January 2005). "A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene". The British Journal of Dermatology. 152 (1): 174–5. doi:10.1111/j.1365-2133.2005.06403.x. PMID 15656822. S2CID 31736225.
Graf J, Hodgson R, van Daal A (March 2005). "Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation". Human Mutation. 25 (3): 278–84. doi:10.1002/humu.20143. PMID 15714523. S2CID 31423377.
Soejima M, Koda Y (January 2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2". International Journal of Legal Medicine. 121 (1): 36–9. doi:10.1007/s00414-006-0112-z. PMID 16847698. S2CID 11192076.
Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, et al. (2006). "Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?". Journal of Human Genetics. 51 (8): 716–20. doi:10.1007/s10038-006-0003-7. PMID 16868655.
Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, et al. (November 2006). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". Journal of Proteome Research. 5 (11): 3135–44. doi:10.1021/pr060363j. PMID 17081065.
Zühlke C, Criée C, Gemoll T, Schillinger T, Kaesmann-Kellner B (June 2007). "Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population". Pigment Cell Research. 20 (3): 225–7. doi:10.1111/j.1600-0749.2007.00377.x. PMID 17516931.
Sengupta M, Chaki M, Arti N, Ray K (August 2007). "SLC45A2 variations in Indian oculocutaneous albinism patients". Molecular Vision. 13: 1406–11. PMID 17768386.
External linksedit
Wikimedia Commons has media related to SLC45A2.
GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4
membrane, associated, transporter, protein, matp, also, known, solute, carrier, family, member, slc45a2, melanoma, antigen, aim1, protein, that, humans, encoded, slc45a2, gene, slc45a2identifiersaliasesslc45a2, aim1, matp, oca4, shep5, solute, carrier, family,. 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 5 6 7 SLC45A2IdentifiersAliasesSLC45A2 1A1 AIM1 MATP OCA4 SHEP5 solute carrier family 45 member 2External IDsOMIM 606202 MGI 2153040 HomoloGene 9412 GeneCards SLC45A2Gene location Human Chr Chromosome 5 human 1 Band5p13 2Start33 944 623 bp 1 End33 984 693 bp 1 Gene location Mouse Chr Chromosome 15 mouse 2 Band15 A1 15 5 4 cMStart11 000 807 bp 2 End11 029 319 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inretinal pigment epitheliumright lobe of liverislet of Langerhanshypothalamuskidneyfundusskin of abdomenrectumprefrontal cortexgallbladderTop expressed inirisstria vascularishair follicleciliary bodysurface ectodermcorneacochleaskin of backskin of abdomenextraocular muscleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionsucrose proton symporter activityCellular componentmelanosome membrane integral component of membrane membraneBiological processsucrose transport developmental pigmentation melanin biosynthetic process response to stimulus visual perceptionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5115122293EnsemblENSG00000281919ENSG00000164175ENSMUSG00000022243UniProtQ9UMX9P58355RefSeq mRNA NM 001012509NM 001297417NM 016180NM 053077RefSeq protein NP 001012527NP 001284346NP 057264NP 444307Location UCSC Chr 5 33 94 33 98 MbChr 15 11 11 03 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse In human the SLC45A2 gene is located on the short p arm of chromosome 5 at position 13 2 Contents 1 Function 2 See also 3 References 4 Further reading 5 External linksFunction editSLC45A2 is a transporter protein that mediates melanin synthesis It may regulate the pH of the melanosome affecting tyrosinase activity 8 SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines 9 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 7 Protein expression is localized to the melanosome and analysis of the by knockdown of RNA expression leads to altered melanosome pH potentially altering tyrosinase function by affecting copper binding 10 In melanocytic cell types the SLC45A2 gene is regulated by microphthalmia associated transcription factor 11 12 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 13 Mutations in the gene have also been identified as the cause of human Type IV oculocutaneous albinism 14 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 15 In dogs a mutation to this gene causes white fur pink skin and blue eyes 16 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 17 See also editSolute carrier familyReferences edit a b c ENSG00000164175 GRCh38 Ensembl release 89 ENSG00000281919 ENSG00000164175 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000022243 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 Journal of Human Genetics 47 2 92 4 doi 10 1007 s100380200007 PMID 11916009 Newton JM Cohen Barak O Hagiwara N Gardner JM Davisson MT King RA Brilliant MH November 2001 Mutations in the human orthologue of the mouse underwhite gene uw underlie a new form of oculocutaneous albinism OCA4 American Journal of Human Genetics 69 5 981 8 doi 10 1086 324340 PMC 1274374 PMID 11574907 a b Entrez Gene SLC45A2 solute carrier family 45 member 2 Mariat Denis Taourit Sead Guerin Gerard 2003 A mutation in the MATP gene causes the cream coat colour in the horse Genetics Selection Evolution 35 1 119 133 doi 10 1186 1297 9686 35 1 119 PMC 2732686 PMID 12605854 Harada M Li YF El Gamil M Rosenberg SA Robbins PF February 2001 Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA A 0201 restricted T cells Cancer Research 61 3 1089 94 PMID 11221837 Bin BH Bhin J Yang SH Shin M Nam YJ Choi DH et al 2015 Membrane Associated Transporter Protein MATP Regulates Melanosomal pH and Influences Tyrosinase Activity PLOS ONE 10 6 e0129273 Bibcode 2015PLoSO 1029273B doi 10 1371 journal pone 0129273 PMC 4461305 PMID 26057890 Du J Fisher DE January 2002 Identification of Aim 1 as the underwhite mouse mutant and its transcriptional regulation by MITF The Journal of Biological Chemistry 277 1 402 6 doi 10 1074 jbc M110229200 PMID 11700328 Hoek KS Schlegel NC Eichhoff OM Widmer DS Praetorius C Einarsson SO et al December 2008 Novel MITF targets identified using a two step DNA microarray strategy Pigment Cell amp Melanoma Research 21 6 665 76 doi 10 1111 j 1755 148X 2008 00505 x PMID 19067971 S2CID 24698373 Soejima M Koda Y January 2007 Population differences of two coding SNPs in pigmentation related genes SLC24A5 and SLC45A2 International Journal of Legal Medicine 121 1 36 9 doi 10 1007 s00414 006 0112 z PMID 16847698 S2CID 11192076 OMIM Entry 606574 ALBINISM OCULOCUTANEOUS TYPE IV OCA4 Mendelian Inheritance in Man Johns Hopkins University Retrieved 2020 08 05 Xu X Dong GX Hu XS Miao L Zhang XL Zhang DL et al June 2013 The genetic basis of white tigers Current Biology 23 11 1031 5 doi 10 1016 j cub 2013 04 054 PMID 23707431 Wijesena HR Schmutz SM May June 2015 A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds The Journal of Heredity 106 3 285 8 doi 10 1093 jhered esv008 PMID 25790827 Park J Talukder AH Lim SA Kim K Pan K Melendez B et al August 2017 SLC45A2 A Melanoma Antigen with High Tumor Selectivity and Reduced Potential for Autoimmune Toxicity Cancer Immunology Research 5 8 618 629 doi 10 1158 2326 6066 CIR 17 0051 PMC 6087543 PMID 28630054 Further reading editFukamachi S Shimada A Shima A August 2001 Mutations in the gene encoding B a novel transporter protein reduce melanin content in medaka Nature Genetics 28 4 381 5 doi 10 1038 ng584 PMID 11479596 S2CID 25285273 Rundshagen U Zuhlke C Opitz S Schwinger E Kasmann Kellner B February 2004 Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 Human Mutation 23 2 106 10 doi 10 1002 humu 10311 PMID 14722913 S2CID 40612241 Inagaki K Suzuki T Shimizu H Ishii N Umezawa Y Tada J et al March 2004 Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan American Journal of Human Genetics 74 3 466 71 doi 10 1086 382195 PMC 1182260 PMID 14961451 Yuasa I Umetsu K Watanabe G Nakamura H Endoh M Irizawa Y December 2004 MATP polymorphisms in Germans and Japanese the L374F mutation as a population marker for Caucasoids International Journal of Legal Medicine 118 6 364 6 doi 10 1007 s00414 004 0490 z PMID 15455243 S2CID 35270576 Suzuki T Inagaki K Fukai K Obana A Lee ST Tomita Y January 2005 A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene The British Journal of Dermatology 152 1 174 5 doi 10 1111 j 1365 2133 2005 06403 x PMID 15656822 S2CID 31736225 Graf J Hodgson R van Daal A March 2005 Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation Human Mutation 25 3 278 84 doi 10 1002 humu 20143 PMID 15714523 S2CID 31423377 Soejima M Koda Y January 2007 Population differences of two coding SNPs in pigmentation related genes SLC24A5 and SLC45A2 International Journal of Legal Medicine 121 1 36 9 doi 10 1007 s00414 006 0112 z PMID 16847698 S2CID 11192076 Lezirovitz K Nicastro FS Pardono E Abreu Silva RS Batissoco AC Neustein I et al 2006 Is autosomal recessive deafness associated with oculocutaneous albinism a coincidence syndrome Journal of Human Genetics 51 8 716 20 doi 10 1007 s10038 006 0003 7 PMID 16868655 Chi A Valencia JC Hu ZZ Watabe H Yamaguchi H Mangini NJ et al November 2006 Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes Journal of Proteome Research 5 11 3135 44 doi 10 1021 pr060363j PMID 17081065 Zuhlke C Criee C Gemoll T Schillinger T Kaesmann Kellner B June 2007 Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population Pigment Cell Research 20 3 225 7 doi 10 1111 j 1600 0749 2007 00377 x PMID 17516931 Sengupta M Chaki M Arti N Ray K August 2007 SLC45A2 variations in Indian oculocutaneous albinism patients Molecular Vision 13 1406 11 PMID 17768386 External links edit nbsp Wikimedia Commons has media related to SLC45A2 GeneReviews NCBI NIH UW entry on Oculocutaneous Albinism Type 4This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Membrane associated transporter protein amp oldid 1136146562, wikipedia, wiki, book, books, library,
