THTPA (thiamine triphosphatase)

2014-11-01  

Identity

HGNC
THTPA
LOCATION
14q11.2
LOCUSID
79178
ALIAS
THTP,THTPASE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79178
MIM: 611612
HGNC: 18987
Ensembl: ENSG00000259431

Variants:

dbSNP: 79178
ClinVar: 79178
TCGA: ENSG00000259431
COSMIC: THTPA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000259431ENST00000288014Q9BU02
ENSG00000259431ENST00000404535Q9BU02
ENSG00000259431ENST00000554789Q9BU02
ENSG00000259431ENST00000554970G3V5Q5
ENSG00000259431ENST00000556015Q9BU02
ENSG00000259431ENST00000556545H0YJU8
ENSG00000259431ENST00000557630G3V5B9

Expression (GTEx)

0
5
10
15
20
25
30
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
151095782004Human recombinant thiamine triphosphatase: purification, secondary structure and catalytic properties.8
151095782004Human recombinant thiamine triphosphatase: purification, secondary structure and catalytic properties.8

Citation

Dessen P

THTPA (thiamine triphosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74689/thtpa-(thiamine-triphosphatase)