| SLC45A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC45A2, 1A1, AIM1, MATP, OCA4, SHEP5, solute carrier family 45 member 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606202; MGI: 2153040; HomoloGene: 9412; GeneCards: SLC45A2; OMA: SLC45A2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
Function
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]
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
References
- ^ 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, et al. (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 D, Taourit S, Guérin G (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 & 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. Bibcode: 2013CBio...23.1031X. 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
- 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. 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.
- 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 links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 | This membrane protein–related article is a stub. You can help Wikipedia by expanding it. |
| SLC45A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC45A2, 1A1, AIM1, MATP, OCA4, SHEP5, solute carrier family 45 member 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606202; MGI: 2153040; HomoloGene: 9412; GeneCards: SLC45A2; OMA: SLC45A2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
Function
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]
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
References
- ^ 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, et al. (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 D, Taourit S, Guérin G (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 & 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. Bibcode: 2013CBio...23.1031X. 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
- 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. 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.
- 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 links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
|
| This membrane protein–related article is a stub. You can help Wikipedia by expanding it. |