SLC19A3
entrez
80704
canonical
uniprot
Q9BZV2
canonical
ensembl
ENSG00000135917
resolver
ensp
ENSP00000258403
resolver
ensp
ENSP00000495385
resolver
ensp
ENSP00000496701
resolver
ensp
ENSP00000525576
resolver
ensp
ENSP00000525577
resolver
ensp
ENSP00000628990
resolver
ensp
ENSP00000628991
resolver
ensp
ENSP00000628992
resolver
ensp
ENSP00000628993
resolver
ensp
ENSP00000628995
resolver
ensp
ENSP00000628996
resolver
ensp
ENSP00000628997
resolver
ensp
ENSP00000714294
resolver
enst
ENST00000258403
resolver
enst
ENST00000644224
resolver
enst
ENST00000646591
resolver
enst
ENST00000855517
resolver
enst
ENST00000855518
resolver
enst
ENST00000958931
resolver
enst
ENST00000958932
resolver
enst
ENST00000958933
resolver
enst
ENST00000958934
resolver
enst
ENST00000958936
resolver
enst
ENST00000958937
resolver
enst
ENST00000958938
resolver
genesymbol
SLC19A3
resolver
hgnc
HGNC:16266
resolver
uniprot
A0A2R8YHG5
resolver
uniprot_entry
A0A2R8YHG5_HUMAN
resolver
uniprot_entry
S19A3_HUMAN
resolver
activity_regulation
ACTIVITY REGULATION: Pyridoxine transport is inhibited by carbonyl cyanide p-trifluoromethoxyphenylhydrazone (FCCP) and carbonyl cyanide m-chlorophenylhydrazone (CCCP). {ECO:0000269|PubMed:33008889}.
uniprot
proteins
amino_acid_sequence
MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPVFVLTDYVRYKPVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQLLVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILSTSGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVEAIATFGGAVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNVERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPDVSHPEEESNIIMSTKL
uniprot
proteins
disease_involvement
DISEASE: Basal ganglia disease, biotin-thiamine responsive (BTBGD) [MIM:607483]: An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. {ECO:0000269|PubMed:15871139}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism (PubMed:11731220, PubMed:33008889, PubMed:35512554, PubMed:35724964). Has no folate transport activity (PubMed:11731220). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964, PubMed:36456177). {ECO:0000269|PubMed:11731220, ECO:0000269|PubMed:33008889, ECO:0000269|PubMed:35512554, ECO:0000269|PubMed:35724964, ECO:0000269|PubMed:36456177}.
uniprot
proteins
mass_dalton
55665
uniprot
proteins
mutagenesis
MUTAGEN 86; /note="Q->H: Significant decrease in pyridoxine transport."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 87; /note="G->V: Significant decrease in pyridoxine transport."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 91; /note="I->A: Significant decrease in pyridoxine transport."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 93; /note="T->S: Significant decrease in pyridoxine transport."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 94; /note="W->Y: Significant decrease in pyridoxine transport."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 168; /note="S->P: Significant decrease in pyridoxine transport."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 173; /note="N->F: Significant decrease in pyridoxine transport."; /evidence="ECO:0000269|PubMed:35724964
uniprot
proteins
protein_family
Reduced folate carrier (RFC) transporter (TC 2.A.48) family
uniprot
proteins
pubmed
11136550
uniprot
proteins
pubmed
11731220
uniprot
proteins
pubmed
14770311
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15871139
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
33008889
uniprot
proteins
pubmed
35512554
uniprot
proteins
pubmed
35724964
uniprot
proteins
pubmed
36456177
uniprot
proteins
sequence_length
496
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 54..74; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 82..102; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 111..131; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 145..165; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 170..190; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 283..303; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 317..337; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 343..363; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 376..396; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 406..426; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 435..455; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins