thiamine transporter 1 (ThTr1, thiamine carrier 1, TC1, solute carrier family 19 member 2, SLC19A2, THT1, TRMA)

Function: - high-affinity transporter for the intake of thiamine Structure: - belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family Compartment: membrane Expression: - ubiquitous - expressed in skeletal & cardiac muscle > placenta, heart, liver & kidney > lung Pathology: - defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome

General

glycoprotein solute carrier family 19 (SLC19, SLC19A) transmembrane 12 protein

Properties

SIZE: entity length = 497 aa MW = 55 kD COMPARTMENT: cellular membrane MOTIF: cytoplasmic domain {1-28} transmembrane domain {29-46} exoplasmic loop {47-72} MOTIF: N-glycosylation site {N63} transmembrane domain {73-91} cytoplasmic loop {92-99} transmembrane domain {100-118} exoplasmic loop {119-128} transmembrane domain {129-149} cytoplasmic loop {150-165} transmembrane domain {166-185} exoplasmic loop {186-191} transmembrane domain {192-208} cytoplasmic loop {209-285} transmembrane domain {286-310} exoplasmic loop {311-337} MOTIF: N-glycosylation site {N314} transmembrane domain {338-354} cytoplasmic loop {355-363} transmembrane domain {364-380} exoplasmic loop {381-386} transmembrane domain {387-409} cytoplasmic loop {410-419} transmembrane domain {420-443} exoplasmic loop {444-455} transmembrane domain {456-479} cytoplasmic domain {480-497}

Database Correlations

OMIM correlations MORBIDMAP 603941 UniProt O60779 Pfam PF01770 Kegg hsa:1056