InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TPK1

Summary

InnateDB Protein

IDBP-46678.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TPK1

Protein Name

thiamin pyrophosphokinase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000353165

InnateDB Gene

IDBG-46676 (TPK1)

Protein Structure

UniProt Annotation

Function

Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. {ECO:0000269PubMed:11342111}.

Subcellular Localization

Disease Associations

Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458]: An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. {ECO:0000269PubMed:22152682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues. {ECO:0000269PubMed:11342111, ECO:0000269PubMed:11342117}.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR006282 Thiamin pyrophosphokinase
IPR007371 Thiamin pyrophosphokinase, catalytic domain
IPR007373 Thiamin pyrophosphokinase, vitamin B1-binding domain
IPR016966 Thiamin pyrophosphokinase, eukaryotic

PFAM

PF04263
PF04265

PRINTS

PIRSF

PIRSF031057

SMART

SM00983

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt