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Membrane-associated transporter protein

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SLC45A2
Identifiers
AliasesSLC45A2, 1A1, AIM1, MATP, OCA4, SHEP5, solute carrier family 45 member 2
External IDsOMIM: 606202; MGI: 2153040; HomoloGene: 9412; GeneCards: SLC45A2; OMA:SLC45A2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

51151

22293

Ensembl

ENSG00000281919
ENSG00000164175

ENSMUSG00000022243

UniProt

Q9UMX9

P58355

RefSeq (mRNA)

NM_001012509
NM_001297417
NM_016180

NM_053077

RefSeq (protein)

NP_001012527
NP_001284346
NP_057264

NP_444307

Location (UCSC)Chr 5: 33.94 – 33.98 MbChr 15: 11 – 11.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

In human, the SLC45A2 gene is located on the short (p) arm of chromosome 5 at position 13.2.

Function

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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

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References

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  1. ^ a b c ENSG00000164175 GRCh38: Ensembl release 89: ENSG00000281919, ENSG00000164175 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022243 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: SLC45A2 solute carrier family 45, member 2".
  8. ^ 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.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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.
  12. ^ 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.
  13. ^ 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.
  14. ^ "OMIM Entry - #606574 - ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2020-08-05.
  15. ^ 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.
  16. ^ 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.
  17. ^ 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

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