Version 5.4
Bos taurus Gene: SLC19A3
Summary
InnateDB Gene IDBG-644266.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC19A3
Gene Name thiamine transporter 2
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000021325
Encoded Proteins
IDBP-696900
thiamine transporter 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000135917:
This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:116619949-116644855
Strand Reverse strand
Band
Transcripts
ENSBTAT00000038159 ENSBTAP00000037975
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0015403 thiamine uptake transmembrane transporter activity
Biological Process
GO:0006810 transport
GO:0055085 transmembrane transport
Cellular Component
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000135917
View Gene Order
ENSMUSG00000038496
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_11117
Vitamin B1 (thiamin) metabolism pathway
REACT_169312
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_169313
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_169316
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_169120
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_11238
Metabolism of water-soluble vitamins and cofactors pathway
REACT_169280
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_169149
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_169363
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_169178
Defective CD320 causes methylmalonic aciduria pathway
REACT_169429
Defects in cobalamin (B12) metabolism pathway
REACT_169169
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_169238
Defects in biotin (Btn) metabolism pathway
REACT_169403
Defective BTD causes biotidinase deficiency pathway
REACT_169415
Defective GIF causes intrinsic factor deficiency pathway
REACT_169385
Defects in vitamin and cofactor metabolism pathway
REACT_169132
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_169256
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_169439
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_111217
Metabolism pathway
REACT_169318
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_116125
Disease pathway
REACT_11193
Metabolism of vitamins and cofactors pathway
REACT_189088
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_189085
Disease pathway
REACT_223427
Vitamin B1 (thiamin) metabolism pathway
REACT_188937
Metabolism pathway
REACT_189089
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_189086
Defective GIF causes intrinsic factor deficiency pathway
REACT_189075
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_189076
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_189078
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_189098
Defective CD320 causes methylmalonic aciduria pathway
REACT_189097
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_189096
Defects in biotin (Btn) metabolism pathway
REACT_189095
Defective BTD causes biotidinase deficiency pathway
REACT_189093
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_189092
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_189091
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_189090
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_254651
Metabolism of vitamins and cofactors pathway
REACT_238663
Metabolism of water-soluble vitamins and cofactors pathway
REACT_189110
Defects in vitamin and cofactor metabolism pathway
REACT_189116
Defects in cobalamin (B12) metabolism pathway
REACT_189114
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_189100
Defective HLCS causes multiple carboxylase deficiency pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.43001
RefSeq NM_001102198 XM_005202967 XM_005202968 XM_005202969
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca