SLC45A2
entrez
51151
canonical
uniprot
Q9UMX9
canonical
ensembl
ENSG00000164175
resolver
ensp
ENSP00000296589
resolver
ensp
ENSP00000371534
resolver
ensp
ENSP00000421100
resolver
enst
ENST00000509381
resolver
genesymbol
SLC45A2
resolver
genesymbol_syn
AIM1
resolver
genesymbol_syn
MATP
resolver
hgnc
HGNC:16472
resolver
uniprot
A0A076YGN1
resolver
uniprot
A0A076YIB8
resolver
uniprot
D6RGY6
resolver
uniprot
Q6P2P0
resolver
uniprot
Q9BTM3
resolver
uniprot_entry
A0A076YGN1_HUMAN
resolver
uniprot_entry
A0A076YIB8_HUMAN
resolver
uniprot_entry
D6RGY6_HUMAN
resolver
uniprot_entry
S45A2_HUMAN
resolver
uniprot_sec
Q6P2P0
resolver
uniprot_sec
Q9BTM3
resolver
amino_acid_sequence
MGSNSGQAGRHIYKSLADDGPFDSVEPPKRPTSRLIMHSMAMFGREFCYAVEAAYVTPVLLSVGLPSSLYSIVWFLSPILGFLLQPVVGSASDHCRSRWGRRRPYILTLGVMMLVGMALYLNGATVVAALIANPRRKLVWAISVTMIGVVLFDFAADFIDGPIKAYLFDVCSHQDKEKGLHYHALFTGFGGALGYLLGAIDWAHLELGRLLGTEFQVMFFFSALVLTLCFTVHLCSISEAPLTEVAKGIPPQQTPQDPPLSSDGMYEYGSIEKVKNGYVNPELAMQGAKNKNHAEQTRRAMTLKSLLRALVNMPPHYRYLCISHLIGWTAFLSNMLFFTDFMGQIVYRGDPYSAHNSTEFLIYERGVEVGCWGLCINSVFSSLYSYFQKVLVSYIGLKGLYFTGYLLFGLGTGFIGLFPNVYSTLVLCSLFGVMSSTLYTVPFNLITEYHREEEKERQQAPGGDPDNSVRGKGMDCATLTCMVQLAQILVGGGLGFLVNTAGTVVVVVITASAVALIGCCFVALFVRYVD
uniprot
proteins
disease_involvement
DISEASE: Albinism, oculocutaneous, 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. {ECO:0000269|PubMed:11574907, ECO:0000269|PubMed:14722913, ECO:0000269|PubMed:14961451, ECO:0000269|PubMed:15656822, ECO:0000269|PubMed:17768386, ECO:0000269|PubMed:19865097, ECO:0000269|PubMed:23504663, ECO:0000269|PubMed:38337174}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Proton-associated glucose and sucrose transporter (By similarity). May be able to transport also fructose (By similarity). Expressed at a late melanosome maturation stage where functions as proton/glucose exporter which increase lumenal pH by decreasing glycolysis (PubMed:32966160, PubMed:35469906). Regulates melanogenesis by maintaining melanosome neutralization that is initially initiated by transient OCA2 and required for a proper function of the tyrosinase TYR (PubMed:32966160, PubMed:35469906). {ECO:0000250|UniProtKB:P58355, ECO:0000269|PubMed:18563784, ECO:0000269|PubMed:18683857, ECO:0000269|PubMed:32966160, ECO:0000269|PubMed:35469906}.
uniprot
proteins
mass_dalton
58268
uniprot
proteins
protein_family
Glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family
uniprot
proteins
pubmed
11221837
uniprot
proteins
pubmed
11574907
uniprot
proteins
pubmed
14722913
uniprot
proteins
pubmed
14961451
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15455243
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15656822
uniprot
proteins
pubmed
15714523
uniprot
proteins
pubmed
17044855
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
17768386
uniprot
proteins
pubmed
17999355
uniprot
proteins
pubmed
18563784
uniprot
proteins
pubmed
18683857
uniprot
proteins
pubmed
19865097
uniprot
proteins
pubmed
23504663
uniprot
proteins
pubmed
25703744
uniprot
proteins
pubmed
32966160
uniprot
proteins
pubmed
35469906
uniprot
proteins
pubmed
38337174
uniprot
proteins
sequence_length
530
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:32966160}; Multi-pass membrane protein {ECO:0000269|PubMed:17081065}. Note=Enriched in mature melanocyte membrane subdomains. {ECO:0000269|PubMed:32966160}.
uniprot
proteins
transmembrane_region
TRANSMEM 47..67; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 69..89; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 111..131; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 139..159; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 185..205; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 217..237; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 319..339; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 367..387; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 399..419; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 426..446; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 478..498; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 505..525; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins