Version 5.4
| Mus musculus Gene: Slc19a3 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-174270.7 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | Slc19a3 | ||||||||
| Gene Name | solute carrier family 19, member 3 | ||||||||
| Synonyms | A230084E24Rik; AI788884; ThTr2 | ||||||||
| Species | Mus musculus | ||||||||
| Ensembl Gene | ENSMUSG00000038496 | ||||||||
| Encoded Proteins |
solute carrier family 19 (sodium/hydrogen exchanger), member 3
solute carrier family 19 (sodium/hydrogen exchanger), member 3
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| Protein Structure |
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| 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] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 1:83012523-83038448 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | C5 | ||||||||
| Transcripts |
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| 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.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||
| NETPATH | |||||||||
| REACTOME |
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Vitamin B1 (thiamin) metabolism pathway
Metabolism pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective GIF causes intrinsic factor deficiency pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective CD320 causes methylmalonic aciduria pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Metabolism of vitamins and cofactors pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defects in vitamin and cofactor metabolism pathway
Defects in cobalamin (B12) metabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Defective HLCS causes multiple carboxylase deficiency pathway
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| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||
| NETPATH | |||||||||
| REACTOME |
Vitamin B1 (thiamin) metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
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| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | Q99PL8 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 80721 | ||||||||
| UniGene | Mm.261542 | ||||||||
| RefSeq | NM_030556 XM_006496579 XM_006496580 | ||||||||
| OMIM | |||||||||
| CCDS | CCDS15101 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| MGI ID | MGI:1931307 | ||||||||
| MGI Symbol | Slc19a3 | ||||||||
| EMBL | AF271634 BC109154 BC109155 | ||||||||
| GenPept | AAG53880 AAI09155 AAI09156 | ||||||||
| RNA Seq Atlas | 80721 | ||||||||