SLC19A2
entrez
10560
canonical
uniprot
O60779
canonical
ensembl
ENSG00000117479
resolver
ensp
ENSP00000236137
resolver
ensp
ENSP00000356778
resolver
genesymbol
SLC19A2
resolver
genesymbol_syn
THT1
resolver
genesymbol_syn
TRMA
resolver
hgnc
HGNC:10938
resolver
uniprot
A0A024R8Y5
resolver
uniprot
A0A024R928
resolver
uniprot
A0A0S2Z5K7
resolver
uniprot
B2R9H0
resolver
uniprot
B4E1X4
resolver
uniprot
Q8WV87
resolver
uniprot
Q9UBL7
resolver
uniprot
Q9UKJ2
resolver
uniprot
Q9UN31
resolver
uniprot
Q9UN43
resolver
uniprot_entry
A0A024R8Y5_HUMAN
resolver
uniprot_entry
A0A024R928_HUMAN
resolver
uniprot_entry
S19A2_HUMAN
resolver
uniprot_sec
A0A0S2Z5K7
resolver
uniprot_sec
B2R9H0
resolver
uniprot_sec
B4E1X4
resolver
uniprot_sec
Q8WV87
resolver
uniprot_sec
Q9UBL7
resolver
uniprot_sec
Q9UKJ2
resolver
uniprot_sec
Q9UN31
resolver
uniprot_sec
Q9UN43
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
MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGPDKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQGLLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSYCRSATLVGFTVGSVLGQILVSVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTDTPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSVWWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWSTWGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIYMLLITIATFQIAANLSMERYALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMKKCRKLEDPQSSSQVTTS
uniprot
proteins
disease_involvement
DISEASE: Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]: An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke. {ECO:0000269|PubMed:10391221, ECO:0000269|PubMed:10391222, ECO:0000269|PubMed:10874303}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: High-affinity transporter for the intake of thiamine (PubMed:10391222, PubMed:10542220, PubMed:21836059, PubMed:33008889, PubMed:35512554, PubMed:35724964). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964). {ECO:0000269|PubMed:10391222, ECO:0000269|PubMed:10542220, ECO:0000269|PubMed:21836059, ECO:0000269|PubMed:33008889, ECO:0000269|PubMed:35512554, ECO:0000269|PubMed:35724964}.
uniprot
proteins
mass_dalton
55400
uniprot
proteins
mutagenesis
MUTAGEN 104; /note="Q->H: Loss of pyridoxine transport; when associated with V-105; A-109; S-111; Y-112; P-186 and F-191."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 105; /note="G->V: Loss of pyridoxine transport; when associated with H-104; A-109; S-111; Y-112; P-186 and F-191."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 109; /note="I->A: Loss of pyridoxine transport; when associated with H-104; V-105; S-111; Y-112; P-186 and F-191."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 111; /note="T->S: Loss of pyridoxine transport; when associated with H-104; V-105; A-109; Y-112; P-186 and F-191."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 112; /note="W->Y: Loss of pyridoxine transport; when associated with H-104; V-105; A-109; S-111; P-186 and F-191."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 186; /note="S->P: Loss of pyridoxine transport; when associated with H-104; V-105; A-109; S-111; Y-112 and F-191."; /evidence="ECO:0000269|PubMed:35724964"; MUTAGEN 191; /note="N->F: Loss of pyridoxine transport; when associated with H-104; V-105; A-109; S-111; Y-112 and P-186."; /evidence="ECO:0000269|PubMed:35724964
uniprot
proteins
protein_family
Reduced folate carrier (RFC) transporter (TC 2.A.48) family
uniprot
proteins
pubmed
10391221
uniprot
proteins
pubmed
10391222
uniprot
proteins
pubmed
10391223
uniprot
proteins
pubmed
10542220
uniprot
proteins
pubmed
10874303
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21836059
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
33008889
uniprot
proteins
pubmed
35512554
uniprot
proteins
pubmed
35724964
uniprot
proteins
sequence_length
497
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21836059, ECO:0000305|PubMed:10391222, ECO:0000305|PubMed:10542220}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 29..46; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 73..91; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 100..118; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 129..149; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 166..185; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 192..208; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 286..310; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 338..354; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 364..380; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 387..409; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 420..443; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 456..479; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins