SLC19A3

SLC19A3 is a member of the reduced folate family of micronutrient transporter genes.[supplied by OMIM

Full Name

solute carrier family 19, member 3

Function

Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity.

Biological Process

Biological Process thiamine transmembrane transportISS:BHF-UCL
Biological Process thiamine transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process thiamine-containing compound metabolic processTAS:Reactome
Biological Process transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Membrane

Involvement in disease

Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2):
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.

Topology

Cytoplasmic: 1-7
Helical: 8-28
Extracellular: 29-53
Helical: 54-74
Cytoplasmic: 75-81
Helical: 82-102
Extracellular: 103-110
Helical: 111-131
Cytoplasmic: 132-144
Helical: 145-165
Extracellular: 166-169
Helical: 170-190
Cytoplasmic: 191-282
Helical: 283-303
Extracellular: 304-316
Helical: 317-337
Cytoplasmic: 338-342
Helical: 343-363
Extracellular: 364-375
Helical: 376-396
Cytoplasmic: 397-405
Helical: 406-426
Extracellular: 427-434
Helical: 435-455
Cytoplasmic: 456-496