SLC45A2

SLC45A2
Identifiers
Aliases SLC45A2, 1A1, AIM1, MATP, OCA4, SHEP5, solute carrier family 45 member 2
External IDs MGI: 2153040 HomoloGene: 9412 GeneCards: SLC45A2
Genetically Related Diseases
melanoma[1]
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

51151

22293

Ensembl

n/a

ENSMUSG00000022243

UniProt

Q9UMX9

P58355

RefSeq (mRNA)

NM_001012509
NM_001297417
NM_016180

NM_053077

RefSeq (protein)

NP_001012527.1
NP_001284346.2
NP_057264.3

NP_444307.1

Location (UCSC) Chr 5: 33.94 – 33.98 Mb Chr 15: 11 – 11.03 Mb
PubMed search [2] [3]
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.[4][5][6]

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.[6]

In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.[7][8]

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.[9] 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.[10]

See also

References

  1. ↑ "Diseases that are genetically associated with SLC45A2 view/edit references on wikidata".
  2. ↑ "Human PubMed Reference:".
  3. ↑ "Mouse PubMed Reference:".
  4. ↑ 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): 92–4. doi:10.1007/s100380200007. PMID 11916009.
  5. ↑ 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): 981–8. doi:10.1086/324340. PMC 1274374Freely accessible. PMID 11574907.
  6. 1 2 "Entrez Gene: SLC45A2 solute carrier family 45, member 2".
  7. ↑ 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): 402–6. doi:10.1074/jbc.M110229200. PMID 11700328.
  8. ↑ 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): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  9. ↑ 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): 36–9. doi:10.1007/s00414-006-0112-z. PMID 16847698.
  10. ↑ 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): 1031–5. doi:10.1016/j.cub.2013.04.054. PMID 23707431.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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