Protein name: SLC45A2 Aliases: MATP, AIM1, underwhite Substrates: sucrose, glucose, fructose [PMID: 25164149] Transport type: Cotransporter / H+ [PMID: 25164149] Tissue and cellular expression: skin, eye, melanocyte Subcellular expression: N/D Disease: Oculocutaneous albinism type IV (OCA4) [OMIM: 606574], skin/hair/eye pigmentation 5 [OMIM: 227240], melanoma Locus: 5p13.3 Sequence ID: NP_001012527.1, NM_001012509.2 NP_057264.3, NM_016180.3 Gene ID: 51151 Splice variants: N/D

S45A2_HUMAN (UniProt)

Gene names: SLC45A2, AIM1, MATP
Protein names and data: S45A2_HUMAN, Full=Membrane-associated transporter protein, Full=Melanoma antigen AIM1;Short=Protein AIM-1;Full=Solute carrier family 45 member 2; Length: 530 a.a., Mass: 58268 Da,
fasta formatted sequence

Function: Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity)
Cellular location: Melanosome membrane; Multi-pass membrane protein
Tissue specificity: Expressed in most melanoma cell lines and melanocytes

Database cross-references

UniProt: Q9UMX9
NextBio: 54040
OMIM: 227240 606202 606574
Ensembl: ENST00000382102
GeneCard: GC05M033981
PharmGenUCSF: SLC45A2
Guide to Pharmacology: SLC45A2 (1210)
SLC45 family of putative sugar transporters (1210)

HGNC: HGNC:16472

Genetic variants

Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM:227240]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. See also Ensembl:ENST00000382102