SLC45A2
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)
Disease:
(OMIM:
227240 606202 606574)
Defects in SLC45A2 are the cause of albinism oculocutaneous type 4 (OCA4) [MIM:606574]. A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus
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
42 - 42
M -> I (in OCA4). VAR_067071
58 - 58
P -> A (in OCA4). VAR_022710
58 - 58
P -> S (in OCA4). VAR_022711
64 - 64
G -> S (in OCA4). VAR_067072
157 - 157
D -> N (in OCA4). VAR_022712
188 - 188
G -> V (in OCA4). VAR_022713
202 - 202
W -> C (in OCA4). VAR_022714
221 - 221
Missing (in OCA4). VAR_022715
272 - 272
E -> K (associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians; dbSNP:rs26722). VAR_022716
26722
302 - 302
T -> S (in OCA4). VAR_067073
317 - 317
Y -> C (in OCA4). VAR_022717
348 - 348
R -> C (in OCA4). VAR_067074
361 - 361
L -> P (in OCA4; dbSNP:rs28939380). VAR_022718
28939380
374 - 374
L -> F (common polymorphism; associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians; dbSNP:rs16891982). VAR_012162
16891982
477 - 477
A -> T (in OCA4). VAR_022719
486 - 486
A -> V (in OCA4). VAR_022720
500 - 500
T -> P (in dbSNP:rs11568737). VAR_022721
11568737
507 - 507
V -> L (in dbSNP:rs3733808). VAR_022722
3733808