Version 5.4
| Homo sapiens Gene: SLC25A19 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-68246.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | SLC25A19 | ||||||||||||||||||
| Gene Name | solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000125454 | ||||||||||||||||||
| Encoded Proteins |
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 17:75272981-75289510 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q25.1 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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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
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | J3KRY6 J3KS44 J3KSI7 J3QL84 J3QLV3 J3QS02 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 60386 | ||||||||||||||||||
| UniGene | |||||||||||||||||||
| RefSeq | NM_001126121 NM_001126122 NM_021734 XM_005257559 XM_005257560 XM_005257561 XM_005257562 XM_006722007 | ||||||||||||||||||
| HUGO | HGNC:14409 | ||||||||||||||||||
| OMIM | 606521 | ||||||||||||||||||
| CCDS | CCDS11720 | ||||||||||||||||||
| HPRD | 08405 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC022211 | ||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | 60386 | ||||||||||||||||||