SLC49A4
entrez
84925
canonical
uniprot
Q96SL1
canonical
ensembl
ENSG00000138463
resolver
ensp
ENSP00000261038
resolver
genesymbol
SLC49A4
resolver
genesymbol_syn
DIRC2
resolver
hgnc
HGNC:16628
resolver
uniprot
A8K561
resolver
uniprot
Q8NBX9
resolver
uniprot_entry
DIRC2_HUMAN
resolver
uniprot_sec
A8K561
resolver
uniprot_sec
Q8NBX9
resolver
amino_acid_sequence
MGSRWSSEEERQPLLGPGLGPGLGASWRSREAAAAALPAAVPGPGRVYGRRWLVLLLFSLLAFVQGLVWNTWGPIQNSARQAYGFSSWDIALLVLWGPIGFLPCFAFMWLLDKRGLRITVLLTSFLMVLGTGLRCIPISDLILKRRLIHGGQMLNGLAGPTVMNAAPFLSTTWFSADERATATAIASMLSYLGGACAFLVGPLVVPAPNGTSPLLAAESSRAHIKDRIEAVLYAEFGVVCLIFSATLAYFPPRPPLPPSVAAASQRLSYRRSVCRLLSNFRFLMIALAYAIPLGVFAGWSGVLDLILTPAHVSQVDAGWIGFWSIVGGCVVGIAMARFADFIRGMLKLILLLLFSGATLSSTWFTLTCLNSITHLPLTTVTLYASCILLGVFLNSSVPIFFELFVETVYPVPEGITCGVVTFLSNMFMGVLLFFLTFYHTELSWFNWCLPGSCLLSLLLILCFRESYDRLYLDVVVSV
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving DIRC2 has been found in a family with renal carcinoma. Translocation t(2;3)(q35;q21) (PubMed:11912179). {ECO:0000269|PubMed:11912179}.
uniprot
proteins
function
FUNCTION: Mediates H(+)-dependent pyridoxine transport. {ECO:0000269|PubMed:21692750, ECO:0000269|PubMed:36456177}.
uniprot
proteins
mass_dalton
52088
uniprot
proteins
mutagenesis
MUTAGEN 14..15; /note="LL->AA: Abolishes lysosomal localization."; /evidence="ECO:0000269|PubMed:21692750, ECO:0000269|PubMed:36456177
uniprot
proteins
post_translational_modification
PTM: Cleaved in lysosomes by cathepsin L between Leu-214 and Ala-261, generating a N-glycosylated N-terminal and a non-glycosylated C-terminal fragment. {ECO:0000269|PubMed:21692750}.
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
pubmed
11912179
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21692750
uniprot
proteins
pubmed
36456177
uniprot
proteins
sequence_length
478
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:21692750, ECO:0000269|PubMed:36456177}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 52..72; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 90..110; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 118..138; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 156..176; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 185..205; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 230..250; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 282..302; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 315..335; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 348..368; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 385..405; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 415..435; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 443..463; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins