TPK1 (thiamin pyrophosphokinase 1)

2014-03-01  

Identity

HGNC
TPK1
LOCATION
7q35
LOCUSID
27010
ALIAS
HTPK1,PP20,THMD5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27010
MIM: 606370
HGNC: 17358
Ensembl: ENSG00000196511

Variants:

dbSNP: 27010
ClinVar: 27010
TCGA: ENSG00000196511
COSMIC: TPK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196511ENST00000360057Q9H3S4
ENSG00000196511ENST00000360057A0A090N8Y0
ENSG00000196511ENST00000378098F8WCM7
ENSG00000196511ENST00000378099F5GZG6
ENSG00000196511ENST00000482940F8VVJ1
ENSG00000196511ENST00000489798F8VPB3
ENSG00000196511ENST00000538212Q6ZQX6
ENSG00000196511ENST00000552881F8VRJ6
ENSG00000196511ENST00000639328A0A1W2PQB3

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Thiamine metabolismKEGGko00730
Thiamine metabolismKEGGhsa00730
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B1 (thiamin) metabolismREACTOMER-HSA-196819

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
342447912021The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF.2
342447912021The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF.2
319645532020TPK1 as a predictive marker for the anti-tumour effects of simvastatin in gastric cancer.3
323618782020Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia.5
330319882020Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.3
319645532020TPK1 as a predictive marker for the anti-tumour effects of simvastatin in gastric cancer.3
323618782020Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia.5
330319882020Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.3
304838962019Reduced thiamine binding is a novel mechanism for TPK deficiency disorder.7
304838962019Reduced thiamine binding is a novel mechanism for TPK deficiency disorder.7
236427342013Up-regulation of vitamin B1 homeostasis genes in breast cancer.15
236427342013Up-regulation of vitamin B1 homeostasis genes in breast cancer.15
221526822011Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.30
221526822011Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.30
203796142010Personalized 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