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thymidine kinase 2, mitochondrial; Mt-TK (TK2)
Function:
- deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, & deoxyuridine
- also phosphorylates antiviral & anti-neoplastic nucleoside analogs
ATP + thymidine = ADP + thymidine 5'-phosphate
Structure:
- monomer
- belongs to the DCK/DGK family
Compartment: mitochondria
Alternative splicing: named isoforms=2; long, short
Expression:
- predominantly expressed in liver, pancreas, muscle, & brain
Pathology:
- defects in TK2 are a cause of myopathic mitochondrial DNA depletion syndrome
Laboratory:
- MT-TK gene mutation
General
mitochondrial protein
thymidine kinase
Properties
SIZE: entity length = 265 aa
MW = 31 kD
COMPARTMENT: mitochondria
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 57-65
binding site
SITE: 81-81
FOR-BINDING-OF: Substrate
binding site
SITE: 99-99
FOR-BINDING-OF: Substrate
binding site
SITE: 110-110
FOR-BINDING-OF: Substrate
glutamate residue {E133}
binding site
SITE: 134-134
FOR-BINDING-OF: Substrate
binding site
SITE: 201-201
FOR-BINDING-OF: Substrate
Database Correlations
OMIM correlations
UniProt O00142
Pfam PF01712
Entrez Gene 7084
Kegg hsa:7084
ENZYME 2.7.1.21
References
- UniProt :accession O00142
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TK2