Entity Details

Primary name S19A2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60779
EntryNameS19A2_HUMAN
FullNameThiamine transporter 1
TaxID9606
Evidenceevidence at protein level
Length497
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesSLC19A2

GO terms

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GOName
GO:0005886 plasma membrane
GO:0008517 folic acid transmembrane transporter activity
GO:0015234 thiamine transmembrane transporter activity
GO:0015888 thiamine transport
GO:0016021 integral component of membrane
GO:0042723 thiamine-containing compound metabolic process
GO:0055085 transmembrane transport
GO:0071934 thiamine transmembrane transport

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR002666 Reduced folate carrierFamilyFamily
IPR028338 Thiamine transporter 1FamilyFamily
IPR036259 MFS transporter superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
249270 OMIMThiamine-responsive megaloblastic anemia syndrome (TRMA)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00152 ThiamineDrugbanksmall molecule

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
S19A2_HUMANCERS2_HUMANBioGRID, IntAct21988832 details
S19A2_HUMANTSN1_HUMANUniProt21836059 details