SLC45A2

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Solute carrier family 45, member 2
Identifiers
Symbol(s) SLC45A2; AIM1; 1A1; MATP
External IDs OMIM: 606202 MGI: 2153040 HomoloGene: 9412
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 51151 22293
Ensembl ENSG00000164175 ENSMUSG00000022243
Uniprot Q9UMX9 Q541S3
Refseq NM_001012509 (mRNA)
NP_001012527 (protein)		 NM_053077 (mRNA)
NP_444307 (protein)
Location Chr 5: 33.98 - 34.02 Mb Chr 15: 10.95 - 10.97 Mb
Pubmed search [1] [2]

Solute carrier family 45, member 2, also known as SLC45A2, is a human gene.[1]

The protein encoded by this gene encodes 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.[1]

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: SLC45A2 solute carrier family 45, member 2.

[edit] 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): 1089-94. 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): 381-5. doi:10.1038/ng584. PMID 11479596. 
  • Newton JM, Cohen-Barak O, Hagiwara N, et al. (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. PMID 11574907. 
  • Nakayama K, Fukamachi S, Kimura H, et al. (2002). "Distinctive distribution of AIM1 polymorphism among major human populations with different skin color.". J. Hum. Genet. 47 (2): 92-4. PMID 11916009. 
  • 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): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Rundshagen U, Zühlke 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): 106-10. 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): 466-71. doi:10.1086/382195. 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): 364-6. 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): 2121-7. doi:10.1101/gr.2596504. 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): 174-5. 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): 278-84. 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): 36-9. 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): 716-20. 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): 3135-44. doi:10.1021/pr060363j. PMID 17081065. 
  • Zühlke C, Criée 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): 225-7. 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: 1406-11. PMID 17768386. 
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

v • d • e
Membrane proteins, carrier proteins: membrane transport proteins
ABC-transporter
A1, A2, A3, A4, A7, A8, A12, B1

B2-3, B2, B3, B4, B5, B6, B7, B9, B11

C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11

D1, D2, D3, D4, E1, F1, F2

G1, G2, G4, Sterolin (G5, G8)
Solute carrier
1A1-7, 1A1, 1A2, 1A3, 1A4, 1A5, 2A1, 2A2, 2A3, 2A4, 2A5, 2A6, 2A8, 2A9, 2A10, 2A12, 3A1, 3A2, 4A1, 4A2, 4A3, 4A4, 4A5, 4A7, 4A8, 4A11, 5A1-2, 5A1, 5A3, 5A5, 5A8, 6A1, 6A2, 6A3, 6A4, 6A5, 6A8, 6A9, 6A19, 7A1, 7A2, 7A3, 7A4, 7A5, 7A7, 7A8, 7A9, 7A11, 8A1-3, 9A1, 9A2, 9A3, 9A3R1, 9A3R2, 9A5, 9A6, 9A8, 10A1, 10A2, 10A3, 10A7, 11A1, 11A2, 11A3, 12A1-2, 12A3, 12A4, 12A5, 12A6, 12A7, 14A1, 13A3, 14A2, 15A1, 15A2, 16A1, 16A2, 16A3, 16A4, 17A1, 17A5, 17A6-8, 17A7, 18A1, 18A2, 18A3, 19A1, 19A2, 19A3, 20A1, 20A2, 22A1, 22A2, 22A3, 22A4, 22A5, 22A6, 22A7, 22A9, 22A11, 22A12, 22A18, 23A1, 23A2, 24A1-2, 24A5, 25A1, 25A3, 25A4, 25A4-6, 25A8, 25A10, 25A11, 25A12, 25A13, 25A14, 25A15, 25A17, 25A19, 25A20, 25A27, 25A31, 25A37, 25A39, 26A2, 26A3, 26A4, 26A5, 26A6, 26A7, 26A8, 27A1, 27A2, 27A3, 27A4, 28A1, 28A2, 29A1, 29A2, 29A4, 30A4, 30A7, 30A8, 31A1, 31A2, 32A1, 34A1, 34A2, 34A3, 35A1, 35A2, 35B2, 35B4, 35C1, 36A1, 37A4, 38A2, 38A3, 39A1, 39A2, 39A3, 39A4, 39A6, 39A7, 40A1, 43A1 44A1, 44A2, 44A4, 45A2, O1A2, O1B1, O1B3, O2B1, O431, O4A1
Monosaccharide
Other