| Tbio | Mitochondrial thiamine pyrophosphate carrier |
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]
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]
Comments
Property Summary
| NCBI Gene PubMed Count | 22 |
| Grant Count | 64 |
| R01 Count | 45 |
| Funding | $7,351,367.1 |
| PubMed Score | 181.47 |
| PubTator Score | 56.27 |
| Disease | log2 FC | p |
|---|---|---|
| group 4 medulloblastoma | -1.200 | 0.000 |
| adrenocortical carcinoma | -1.409 | 0.000 |
| tuberculosis and treatment for 3 months | -1.200 | 0.000 |
| inflammatory breast cancer | 1.200 | 0.001 |
| PMID | Text |
|---|---|
| 26316591 | Chronic alcohol exposure negatively impacts pancreatic mitochondrial thiamin pyrophosphate transport, and this effect is exerted, at least in part, at the level of Slc25a19 transcription and appears to involve an epigenetic mechanism. |
| 23872534 | Characterization of the SLC25A19 promoter and demonstration of an essential role for NF-Y in its basal activity. |
| 23642734 | These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines. |
| 23266187 | Compares and contrasts all the known human SLC25A* genes and includes functional information. |
| 20877624 | Observational study of gene-disease association. (HuGE Navigator) |
| 19798730 | a pathogenic missense mutation in the SLC25A19 gene was identifiedin 4 patients who suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy |
| 18280798 | We review the evidence that the function of the SLC25A19 gene product, previously identified as the mitochondrial deoxyribonucleotide carrier (DNC), is actually the transport of thiamine pyrophosphate.[review] |
| 17035501 | mitochondria of Slc25a19(-/-) and Amish lethal microcephaly cells have undetectable and markedly reduced thiamine pyrophosphate content, respectively |
| 12185364 | mutant protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes Amiah microcephaly (MCPHA) |
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQIL 1 - 70 QEEGPTAFWKGHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVD 71 - 140 VLRTRFAAQGEPKVYNTLRHAVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAE 141 - 210 GKKNENLQNLLCGSGAGVISKTLTYPLDLFKKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALG 211 - 280 FFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR 281 - 320 //
| PMID | Year | Title |
|---|---|---|
| 26316591 | 2015 | Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells. |
| 25944712 | 2015 | N-terminome analysis of the human mitochondrial proteome. |
| 23872534 | 2013 | Characterization of the human mitochondrial thiamine pyrophosphate transporter SLC25A19 minimal promoter: a role for NF-Y in regulating basal transcription. |
| 23642734 | 2013 | Up-regulation of vitamin B1 homeostasis genes in breast cancer. |
| 23266187 | The mitochondrial transporter family SLC25: identification, properties and physiopathology. | |
| 23186163 | 2013 | Toward a comprehensive characterization of a human cancer cell phosphoproteome. |
| 22020285 | 2011 | Image-based genome-wide siRNA screen identifies selective autophagy factors. |
| 21630459 | 2011 | Proteomic characterization of the human sperm nucleus. |
| 21269460 | 2011 | Initial characterization of the human central proteome. |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. |
| More... |
