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Tbio
SLC25A19
Mitochondrial thiamine pyrophosphate carrier

Protein Summary
Description
Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000320362
  • ENSP00000319574
  • ENSG00000125454
  • ENST00000375261
  • ENSP00000364410
  • ENST00000402418
  • ENSP00000385312
  • ENST00000416858
  • ENSP00000397818
  • ENST00000442286
  • ENSP00000402202
  • ENST00000580994
  • ENSP00000463795

Symbol
  • DNC
  • MUP1
  • DNC
  • TPC
  • MUP1
  • MCPHA
  • THMD3
  • THMD4
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.89
transcription factor binding site profile
0.87
kinase perturbation
0.76
transcription factor perturbation
0.74
disease perturbation
0.68


Protein Classes
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 182.7   (req: < 5)
Gene RIFs: 11   (req: <= 3)
Antibodies: 98   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 182.7   (req: >= 5)
Gene RIFs: 11   (req: > 3)
Antibodies: 98   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0