Homo sapiens Gene: TPK1
Summary
InnateDB Gene IDBG-46676.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TPK1
Gene Name thiamin pyrophosphokinase 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000196511
Encoded Proteins
thiamin pyrophosphokinase 1
thiamin pyrophosphokinase 1
thiamin pyrophosphokinase 1
thiamin pyrophosphokinase 1
thiamin pyrophosphokinase 1
thiamin pyrophosphokinase 1
thiamin pyrophosphokinase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:144451941-144836395
Strand Reverse strand
Band q35
Transcripts
ENST00000360057 ENSP00000353165
ENST00000378099 ENSP00000367339
ENST00000378098 ENSP00000367338
ENST00000482940 ENSP00000449909
ENST00000481645
ENST00000489798 ENSP00000450028
ENST00000538212 ENSP00000438813
ENST00000547966
ENST00000551062
ENST00000548831
ENST00000552881 ENSP00000448655
ENST00000546806
ENST00000548460
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004788 thiamine diphosphokinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0030975 thiamine binding
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006772 thiamine metabolic process
GO:0009229 thiamine diphosphate biosynthetic process
GO:0016310 phosphorylation
GO:0042723 thiamine-containing compound metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Vitamin B1 (thiamin) metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Thiamine metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.660232
RefSeq NM_001042482 NM_022445 XM_005249970 XM_005249971 XM_005249974 XM_006715925
HUGO
OMIM
CCDS CCDS55178 CCDS5888
HPRD 06967
IMGT
EMBL
GenPept
RNA Seq Atlas