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Thiamine transporter 1

Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a protein that in humans is encoded by the SLC19A2 gene. SLC19A2 is a thiamine transporter. Mutations in this gene cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by…

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Clinical significance

OnsetInfancyAdolescenceAnemiaOptic atrophy
19 related topics

Structure

Chromosome 1Amino acidsMembrane proteinCell membraneN-terminus
17 related topics

Function

SpecificInhibitedSodium ionProton gradientPH
8 related topics

Interactions

InteractsCERS2
2 related topics

Key facts & relationships

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Aliases
SLC19A2, TC1, THMD1, THT1, THTR1, TRMA, solute carrier family 19 member 2
Band
1q24.2 · 1 H2.2|1 71.56 cM
Bgee
secondary oocyte · gastrocnemius muscle · tibialis anterior muscle · Skeletal muscle tissue of rectus abdominis · biceps brachii
BioGPS
n/a
Chr.
Chromosome 1 (human) · Chromosome 1 (mouse)
Databases
NCBI: entry; OMA: entry

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Structure

Function

Clinical significance

Interactions

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Map overview Semantic statistics

Thiamine transporter 1

Nodes62
Edges61
Triples73
Avg. degree1.97
Density0.032258
Components1

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Thiamine transporter 1

Top relations

Bgee · 20
Thiamine transporter 1 → biceps brachii, body of tongue, buccal mucosa cell, cornea, cumulus cell, deltoid muscle, endothelial cell of lymphatic vessel, facial motor nucleus, gastric mucosa, gastrocnemius muscle, interventricular septum, left lobe of liver, medullary collecting duct, motor neuron, muscle of thigh, retinal pigment epithelium, secondary oocyte, Skeletal muscle tissue of rectus abdominis, spermatocyte, tibialis anterior muscle
RNA expression pattern · 20
Thiamine transporter 1 → biceps brachii, body of tongue, buccal mucosa cell, cornea, cumulus cell, deltoid muscle, endothelial cell of lymphatic vessel, facial motor nucleus, gastric mucosa, gastrocnemius muscle, interventricular septum, left lobe of liver, medullary collecting duct, motor neuron, muscle of thigh, retinal pigment epithelium, secondary oocyte, Skeletal muscle tissue of rectus abdominis, spermatocyte, tibialis anterior muscle
Gene ontology · 13
Thiamine transporter 1 → folic acid transmembrane transporter activity, folic acid transport, integral component of membrane, membrane, plasma membrane, protein binding, thiamine transmembrane transport, thiamine transmembrane transporter activity, thiamine transport, thiamine-containing compound metabolic process, transmembrane transport, vitamin transmembrane transporter activity, vitamin transport
Band · 2
Thiamine transporter 1 → 1 H2.2|1 71.56 cM, 1q24.2
Chr. · 2
Thiamine transporter 1 → Chromosome 1 (human), Chromosome 1 (mouse)
End · 2
Thiamine transporter 1 → 164,092,954 bp, 169,485,944 bp
Aliases · 1
Thiamine transporter 1 → SLC19A2, TC1, THMD1, THT1, THTR1, TRMA, solute carrier family 19 member 2
BioGPS · 1
Thiamine transporter 1 → n/a
Databases · 1
Thiamine transporter 1 → NCBI: entry; OMA: entry
Ensembl · 1
Thiamine transporter 1 → ENSG00000117479

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Important terminology

gene slc19a2 protein thiamine bp human transporter chr band chromosome anemia tc1 encoded membrane cell trma location thiamine-responsive megaloblastic syndrome

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
Thiamine transporter 1AliasesSLC19A2, TC1, THMD1, THT1, THTR1, TRMA, solute carrier family 19 member 21.00infobox
Thiamine transporter 1Band1q24.21.00infobox
Thiamine transporter 1Band1 H2.2|1 71.56 cM1.00infobox
Thiamine transporter 1Bgeesecondary oocyte1.00infobox
Thiamine transporter 1Bgeegastrocnemius muscle1.00infobox
Thiamine transporter 1Bgeetibialis anterior muscle1.00infobox
Thiamine transporter 1BgeeSkeletal muscle tissue of rectus abdominis1.00infobox
Thiamine transporter 1Bgeebiceps brachii1.00infobox
Thiamine transporter 1Bgeedeltoid muscle1.00infobox
Thiamine transporter 1Bgeemuscle of thigh1.00infobox
Thiamine transporter 1Bgeegastric mucosa1.00infobox
Thiamine transporter 1Bgeebuccal mucosa cell1.00infobox
Thiamine transporter 1Bgeebody of tongue1.00infobox
Thiamine transporter 1Bgeeretinal pigment epithelium1.00infobox
Thiamine transporter 1Bgeeleft lobe of liver1.00infobox
Thiamine transporter 1Bgeefacial motor nucleus1.00infobox
Thiamine transporter 1Bgeemedullary collecting duct1.00infobox
Thiamine transporter 1Bgeecornea1.00infobox
Thiamine transporter 1Bgeeendothelial cell of lymphatic vessel1.00infobox
Thiamine transporter 1Bgeeinterventricular septum1.00infobox
Thiamine transporter 1Bgeemotor neuron1.00infobox
Thiamine transporter 1Bgeecumulus cell1.00infobox
Thiamine transporter 1Bgeespermatocyte1.00infobox
Thiamine transporter 1BioGPSn/a1.00infobox
Thiamine transporter 1Chr.Chromosome 1 (human)1.00infobox
Thiamine transporter 1Chr.Chromosome 1 (mouse)1.00infobox
Thiamine transporter 1DatabasesNCBI: entry; OMA: entry1.00infobox
Thiamine transporter 1End169,485,944 bp1.00infobox
Thiamine transporter 1End164,092,954 bp1.00infobox
Thiamine transporter 1EnsemblENSG000001174791.00infobox

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