Identity
HGNC
LOCATION
7q35
LOCUSID
ALIAS
HTPK1,PP20,THMD5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27010
MIM: 606370
HGNC: 17358
Ensembl: ENSG00000196511
Variants:
dbSNP: 27010
ClinVar: 27010
TCGA: ENSG00000196511
COSMIC: TPK1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34244791 | 2021 | The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF. | 2 |
| 34244791 | 2021 | The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF. | 2 |
| 31964553 | 2020 | TPK1 as a predictive marker for the anti-tumour effects of simvastatin in gastric cancer. | 3 |
| 32361878 | 2020 | Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia. | 5 |
| 33031988 | 2020 | Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype. | 3 |
| 31964553 | 2020 | TPK1 as a predictive marker for the anti-tumour effects of simvastatin in gastric cancer. | 3 |
| 32361878 | 2020 | Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia. | 5 |
| 33031988 | 2020 | Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype. | 3 |
| 30483896 | 2019 | Reduced thiamine binding is a novel mechanism for TPK deficiency disorder. | 7 |
| 30483896 | 2019 | Reduced thiamine binding is a novel mechanism for TPK deficiency disorder. | 7 |
| 23642734 | 2013 | Up-regulation of vitamin B1 homeostasis genes in breast cancer. | 15 |
| 23642734 | 2013 | Up-regulation of vitamin B1 homeostasis genes in breast cancer. | 15 |
| 22152682 | 2011 | Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. | 30 |
| 22152682 | 2011 | Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. | 30 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
TPK1 (thiamin pyrophosphokinase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-03-01
Online version: http://atlasgeneticsoncology.org/gene/53831/tpk1-(thiamin-pyrophosphokinase-1)
