Thymidine kinase 2, mitochondrial
Details
- Name
- Thymidine kinase 2, mitochondrial
- Synonyms
- 2.7.1.21
- Mt-TK
- Gene Name
- TK2
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0009558|Thymidine kinase 2, mitochondrial MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIA SGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDR HTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIV YLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHH MERMLELFEQNRDRILTPENRKHCP
- Number of residues
- 265
- Molecular Weight
- 31004.53
- Theoretical pI
- Not Available
- GO Classification
- FunctionsATP binding / deoxycytidine kinase activity / thymidine kinase activityProcessesdeoxycytidine metabolic process / deoxyribonucleotide metabolic process / DNA biosynthetic process / mitochondrial DNA replication / nucleobase-containing compound metabolic process / nucleobase-containing small molecule metabolic process / pyrimidine nucleobase metabolic process / pyrimidine nucleoside salvage / small molecule metabolic process / thymidine metabolic processComponentsmitochondrial inner membrane / mitochondrial matrix
- General Function
- Thymidine kinase activity
- Specific Function
- Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs.
- Pfam Domain Function
- dNK (PF01712)
- Transmembrane Regions
- Not Available
- Cellular Location
- Mitochondrion
- Gene sequence
>lcl|BSEQ0017494|Thymidine kinase 2, mitochondrial (TK2) ATGGGTGCGTTCTGCCAGCGTCCTAGCAGTGATAAAGAACAGGAAAAAGAGAAAAAATCA GTGATCTGTGTCGAGGGCAATATTGCAAGTGGGAAGACGACATGCCTGGAATTCTTCTCC AACGCGACAGACGTCGAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGC CACAATCCTCTGGGCCTGATGTACCACGATGCCTCTCGCTGGGGTCTTACGCTACAGACT TATGTGCAGCTCACCATGCTGGACAGGCATACTCGTCCTCAGGTGTCATCTGTACGGTTG ATGGAGAGGTCGATTCACAGCGCAAGATACATTTTTGTAGAAAACCTGTATAGAAGTGGG AAGATGCCAGAAGTGGACTATGTAGTTCTGTCGGAATGGTTTGACTGGATCTTGAGGAAC ATGGACGTGTCTGTTGATTTGATAGTTTACCTTCGGACCAATCCTGAGACTTGTTACCAG AGGTTAAAGAAGAGATGCAGGGAAGAGGAGAAGGTCATTCCGCTGGAATACCTGGAAGCA ATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCT GTTCTGGTGATTGAGGCTGACCACCACATGGAGAGGATGTTAGAACTCTTTGAACAAAAT CGGGATCGAATATTAACTCCAGAGAATCGGAAGCATTGCCCATAG
- Chromosome Location
- 16
- Locus
- Not Available
- External Identifiers
Resource Link UniProtKB ID O00142 UniProtKB Entry Name KITM_HUMAN HGNC ID HGNC:11831 - General References
- Johansson M, Karlsson A: Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2. J Biol Chem. 1997 Mar 28;272(13):8454-8. [Article]
- Wang L, Munch-Petersen B, Herrstrom Sjoberg A, Hellman U, Bergman T, Jornvall H, Eriksson S: Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates. FEBS Lett. 1999 Jan 25;443(2):170-4. [Article]
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- Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
- Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O: Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet. 2001 Nov;29(3):342-4. [Article]
- Mancuso M, Salviati L, Sacconi S, Otaegui D, Camano P, Marina A, Bacman S, Moraes CT, Carlo JR, Garcia M, Garcia-Alvarez M, Monzon L, Naini AB, Hirano M, Bonilla E, Taratuto AL, DiMauro S, Vu TH: Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology. 2002 Oct 22;59(8):1197-202. [Article]
- Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S: Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. Mol Genet Metab. 2005 Jan;84(1):75-82. [Article]
- Tulinius M, Moslemi AR, Darin N, Holme E, Oldfors A: Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion. Neuromuscul Disord. 2005 Jun;15(6):412-5. [Article]
- Knierim E, Seelow D, Gill E, von Moers A, Schuelke M: Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus. Mitochondrion. 2015 Jan;20:1-6. doi: 10.1016/j.mito.2014.10.007. Epub 2014 Nov 4. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB02452 Thymidine 5'-triphosphate experimental unknown Details DB02594 2'-Deoxycytidine experimental, investigational unknown Details DB04485 Thymidine experimental, investigational unknown substrate Details DB03312 Brivudine approved, investigational yes substrate Details DB00441 Gemcitabine approved no substrate Details