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Tbio
SLC25A19
Mitochondrial thiamine pyrophosphate carrier

Protein Classes
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


Related Tools
RESOLUTE
RESOLUTE is a public-private partnership with the goal of escalating research on solute carriers (SLCs) and to establish SLCs as a tractable target class for medical research and development.
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 121.79   (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: 121.79   (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
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
1
1
1
17.5
reticulocyte measurement
1
1
1
10.7
1
1
0
1.2
5.3
triglyceride measurement
1
1
1
0.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
1
17.5
reticulocyte measurement
1
10.7
0
1.2
5.3
triglyceride measurement
1
0.6
Orthologs (16)
1 – 5 of 16
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
solute carrier family 25 member 19
VGNC:9618
454879
Macaque
solute carrier family 25 member 19
706122
Mouse
MGI:1914533
67283
Rat
RGD:1359554
303676
Dog
solute carrier family 25 member 19
VGNC:46298
483311
Species
Name
OMA
EggNOG
Inparanoid
Chimp
solute carrier family 25 member 19
Macaque
solute carrier family 25 member 19
Mouse
Rat
Dog
solute carrier family 25 member 19
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q9HC21-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (34)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism
Reactome
Metabolism of vitamins and cofactors
Reactome
Metabolism of water-soluble vitamins and cofactors
Reactome
Vitamin B1 (thiamin) metabolism
Name
Explore in Pharos
Explore in Source
Metabolism
Metabolism of vitamins and cofactors
Metabolism of water-soluble vitamins and cofactors
Vitamin B1 (thiamin) metabolism
Protein-Protein Interactions (37)
1 – 10 of 37
ATP5PD
Tbio
Family: Enzyme
Novelty: 0.0730514
Score: 0.813
Data Source: STRINGDB
DPYD
Tclin
Family: Enzyme
Novelty: 0.00207216
Score: 0.8
Data Source: STRINGDB
ALDH7A1
Tbio
Family: Enzyme
Novelty: 0.00069494
Score: 0.748
Data Source: STRINGDB
PDE4D
Tclin
Family: Enzyme
Novelty: 0.00339482
Score: 0.718
Data Source: STRINGDB
PDE12
Tbio
Family: Enzyme
Novelty: 0.0314741
Score: 0.718
Data Source: STRINGDB
PDE1B
Tclin
Family: Enzyme
Novelty: 0.02444759
Score: 0.717
Data Source: STRINGDB
PDE4A
Tclin
Family: Enzyme
Novelty: 0.00067574
Score: 0.715
Data Source: STRINGDB
STIL
Tbio
Novelty: 0.01053211
Score: 0.704
Data Source: STRINGDB
CENPJ
Tbio
Novelty: 0.01337231
Score: 0.69
Data Source: STRINGDB
NDUFAF6
Tbio
Family: Enzyme
Novelty: 0.07584052
Score: 0.69
Data Source: STRINGDB
Publication Statistics
PubMed Score  121.79

PubMed score by year
PubTator Score  71.18

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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