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O00142

- KITM_HUMAN

UniProt

O00142 - KITM_HUMAN

Protein

Thymidine kinase 2, mitochondrial

Gene

TK2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 4 (28 Jul 2009)
      Previous versions | rss
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    Functioni

    Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs.

    Catalytic activityi

    ATP + thymidine = ADP + thymidine 5'-phosphate.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei81 – 811SubstrateBy similarity
    Binding sitei99 – 991SubstrateBy similarity
    Binding sitei110 – 1101SubstrateBy similarity
    Active sitei133 – 1331Proton acceptorSequence Analysis
    Binding sitei134 – 1341SubstrateBy similarity
    Binding sitei201 – 2011SubstrateBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi57 – 659ATPBy similarity

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. deoxycytidine kinase activity Source: Ensembl
    3. phosphotransferase activity, alcohol group as acceptor Source: InterPro
    4. thymidine kinase activity Source: ProtInc

    GO - Biological processi

    1. deoxycytidine metabolic process Source: Ensembl
    2. deoxyribonucleoside monophosphate biosynthetic process Source: GOC
    3. deoxyribonucleotide metabolic process Source: Ensembl
    4. mitochondrial DNA replication Source: Ensembl
    5. nucleobase-containing compound metabolic process Source: ProtInc
    6. nucleobase-containing small molecule metabolic process Source: Reactome
    7. pyrimidine nucleobase metabolic process Source: Reactome
    8. pyrimidine nucleoside salvage Source: Reactome
    9. small molecule metabolic process Source: Reactome
    10. thymidine metabolic process Source: Ensembl

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Biological processi

    DNA synthesis

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS09420-MONOMER.
    BRENDAi2.7.1.21. 2681.
    ReactomeiREACT_471. E2F mediated regulation of DNA replication.
    REACT_655. Pyrimidine salvage reactions.
    REACT_683. G1/S-Specific Transcription.
    SABIO-RKO00142.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Thymidine kinase 2, mitochondrial (EC:2.7.1.21)
    Alternative name(s):
    Mt-TK
    Gene namesi
    Name:TK2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:11831. TK2.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Ensembl
    2. mitochondrial matrix Source: Reactome

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]: A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531I → M in MTDPS2. 1 Publication
    VAR_019419
    Natural varianti64 – 641T → M in MTDPS2. 1 Publication
    VAR_023790
    Natural varianti108 – 1081T → M in MTDPS2; reduction of activity. 2 Publications
    VAR_019420
    Natural varianti121 – 1211H → N in MTDPS2. 2 Publications
    VAR_019421
    Natural varianti183 – 1831R → W in MTDPS2. 1 Publication
    VAR_023791
    Natural varianti192 – 1921R → K in MTDPS2; reduction of activity. 1 Publication
    VAR_023792
    Natural varianti212 – 2121I → N in MTDPS2. 1 Publication
    VAR_019422

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi609560. phenotype.
    Orphaneti254886. Autosomal recessive progressive external ophthalmoplegia.
    254875. Mitochondrial DNA depletion syndrome, myopathic form.
    PharmGKBiPA36535.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3333MitochondrionAdd
    BLAST
    Chaini34 – 265232Thymidine kinase 2, mitochondrialPRO_0000016842Add
    BLAST

    Proteomic databases

    MaxQBiO00142.
    PaxDbiO00142.
    PRIDEiO00142.

    PTM databases

    PhosphoSiteiO00142.

    Expressioni

    Tissue specificityi

    Predominantly expressed in liver, pancreas, muscle, and brain.

    Gene expression databases

    ArrayExpressiO00142.
    BgeeiO00142.
    CleanExiHS_TK2.
    GenevestigatoriO00142.

    Organism-specific databases

    HPAiHPA041162.

    Interactioni

    Subunit structurei

    Monomer.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000299697.

    Structurei

    3D structure databases

    ProteinModelPortaliO00142.
    SMRiO00142. Positions 53-221.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the DCK/DGK family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG1428.
    HOVERGENiHBG006216.
    InParanoidiO00142.
    KOiK00857.
    PhylomeDBiO00142.
    TreeFamiTF324413.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR002624. DNK.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PANTHERiPTHR10513. PTHR10513. 1 hit.
    PfamiPF01712. dNK. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000705. DNK. 1 hit.
    SUPFAMiSSF52540. SSF52540. 1 hit.

    Sequences (5)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform Long (identifier: O00142-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLLWPLRGWA ARALRCFGPG SRGSPASGPG PRRVQRRAWP PDKEQEKEKK    50
    SVICVEGNIA SGKTTCLEFF SNATDVEVLT EPVSKWRNVR GHNPLGLMYH 100
    DASRWGLTLQ TYVQLTMLDR HTRPQVSSVR LMERSIHSAR YIFVENLYRS 150
    GKMPEVDYVV LSEWFDWILR NMDVSVDLIV YLRTNPETCY QRLKKRCREE 200
    EKVIPLEYLE AIHHLHEEWL IKGSLFPMAA PVLVIEADHH MERMLELFEQ 250
    NRDRILTPEN RKHCP 265
    Length:265
    Mass (Da):31,005
    Last modified:July 28, 2009 - v4
    Checksum:i1E9CB62D0321A992
    GO
    Isoform Short (identifier: O00142-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-41: MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPP → MGAFCQRPSS

    Note: No experimental confirmation available.

    Show »
    Length:234
    Mass (Da):27,562
    Checksum:iBA62F86B35942E34
    GO
    Isoform 3 (identifier: O00142-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         53-77: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:240
    Mass (Da):28,374
    Checksum:i5BBDA88F49F0F331
    GO
    Isoform 4 (identifier: O00142-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         78-95: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:247
    Mass (Da):28,920
    Checksum:i9EB1F18D680A66BB
    GO
    Isoform 5 (identifier: O00142-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-97: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:168
    Mass (Da):20,281
    Checksum:i436EAB164C5784EE
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti37 – 371R → Y AA sequence (PubMed:9989599)Curated
    Sequence conflicti49 – 491K → E in BAG57808. (PubMed:14702039)Curated
    Sequence conflicti61 – 611S → G in AAC51167. (PubMed:9079672)Curated
    Sequence conflicti206 – 2061L → P in BAG57808. (PubMed:14702039)Curated
    Sequence conflicti238 – 2381D → DH in CAA71523. (PubMed:9989599)Curated
    Sequence conflicti241 – 2411Missing in AAC51167. (PubMed:9079672)Curated
    Sequence conflicti251 – 2511N → S in BAG57808. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531I → M in MTDPS2. 1 Publication
    VAR_019419
    Natural varianti64 – 641T → M in MTDPS2. 1 Publication
    VAR_023790
    Natural varianti108 – 1081T → M in MTDPS2; reduction of activity. 2 Publications
    VAR_019420
    Natural varianti121 – 1211H → N in MTDPS2. 2 Publications
    VAR_019421
    Natural varianti183 – 1831R → W in MTDPS2. 1 Publication
    VAR_023791
    Natural varianti192 – 1921R → K in MTDPS2; reduction of activity. 1 Publication
    VAR_023792
    Natural varianti212 – 2121I → N in MTDPS2. 1 Publication
    VAR_019422

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9797Missing in isoform 5. 1 PublicationVSP_054606Add
    BLAST
    Alternative sequencei1 – 4141MLLWP…RAWPP → MGAFCQRPSS in isoform Short. 1 PublicationVSP_003028Add
    BLAST
    Alternative sequencei53 – 7725Missing in isoform 3. 1 PublicationVSP_043503Add
    BLAST
    Alternative sequencei78 – 9518Missing in isoform 4. 1 PublicationVSP_044459Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U77088 mRNA. Translation: AAC51167.1.
    Y10498 mRNA. Translation: CAA71523.3.
    AK294627 mRNA. Translation: BAG57808.1.
    AK302976 mRNA. Translation: BAG64119.1.
    AK316226 mRNA. Translation: BAH14597.1.
    AC010542 Genomic DNA. No translation available.
    CH471092 Genomic DNA. Translation: EAW83013.1.
    CH471092 Genomic DNA. Translation: EAW83015.1.
    CCDSiCCDS10805.2. [O00142-1]
    CCDS54016.1. [O00142-3]
    CCDS54017.1. [O00142-4]
    CCDS54018.1. [O00142-2]
    CCDS61955.1. [O00142-5]
    RefSeqiNP_001166114.1. NM_001172643.1. [O00142-2]
    NP_001166115.1. NM_001172644.1. [O00142-3]
    NP_001258864.1. NM_001271935.1.
    NP_001258979.1. NM_001272050.1. [O00142-5]
    NP_004605.4. NM_004614.4. [O00142-1]
    UniGeneiHs.512619.

    Genome annotation databases

    EnsembliENST00000417693; ENSP00000407469; ENSG00000166548. [O00142-4]
    ENST00000451102; ENSP00000414334; ENSG00000166548. [O00142-1]
    ENST00000525974; ENSP00000434594; ENSG00000166548. [O00142-5]
    ENST00000527284; ENSP00000435312; ENSG00000166548. [O00142-2]
    ENST00000527800; ENSP00000433770; ENSG00000166548. [O00142-5]
    ENST00000545043; ENSP00000438143; ENSG00000166548. [O00142-3]
    ENST00000563369; ENSP00000463560; ENSG00000166548. [O00142-5]
    GeneIDi7084.
    KEGGihsa:7084.
    UCSCiuc002eor.3. human. [O00142-2]
    uc002eos.3. human. [O00142-1]
    uc010viq.2. human. [O00142-4]
    uc010vir.2. human. [O00142-3]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U77088 mRNA. Translation: AAC51167.1 .
    Y10498 mRNA. Translation: CAA71523.3 .
    AK294627 mRNA. Translation: BAG57808.1 .
    AK302976 mRNA. Translation: BAG64119.1 .
    AK316226 mRNA. Translation: BAH14597.1 .
    AC010542 Genomic DNA. No translation available.
    CH471092 Genomic DNA. Translation: EAW83013.1 .
    CH471092 Genomic DNA. Translation: EAW83015.1 .
    CCDSi CCDS10805.2. [O00142-1 ]
    CCDS54016.1. [O00142-3 ]
    CCDS54017.1. [O00142-4 ]
    CCDS54018.1. [O00142-2 ]
    CCDS61955.1. [O00142-5 ]
    RefSeqi NP_001166114.1. NM_001172643.1. [O00142-2 ]
    NP_001166115.1. NM_001172644.1. [O00142-3 ]
    NP_001258864.1. NM_001271935.1.
    NP_001258979.1. NM_001272050.1. [O00142-5 ]
    NP_004605.4. NM_004614.4. [O00142-1 ]
    UniGenei Hs.512619.

    3D structure databases

    ProteinModelPortali O00142.
    SMRi O00142. Positions 53-221.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000299697.

    Chemistry

    BindingDBi O00142.
    ChEMBLi CHEMBL4580.

    PTM databases

    PhosphoSitei O00142.

    Proteomic databases

    MaxQBi O00142.
    PaxDbi O00142.
    PRIDEi O00142.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000417693 ; ENSP00000407469 ; ENSG00000166548 . [O00142-4 ]
    ENST00000451102 ; ENSP00000414334 ; ENSG00000166548 . [O00142-1 ]
    ENST00000525974 ; ENSP00000434594 ; ENSG00000166548 . [O00142-5 ]
    ENST00000527284 ; ENSP00000435312 ; ENSG00000166548 . [O00142-2 ]
    ENST00000527800 ; ENSP00000433770 ; ENSG00000166548 . [O00142-5 ]
    ENST00000545043 ; ENSP00000438143 ; ENSG00000166548 . [O00142-3 ]
    ENST00000563369 ; ENSP00000463560 ; ENSG00000166548 . [O00142-5 ]
    GeneIDi 7084.
    KEGGi hsa:7084.
    UCSCi uc002eor.3. human. [O00142-2 ]
    uc002eos.3. human. [O00142-1 ]
    uc010viq.2. human. [O00142-4 ]
    uc010vir.2. human. [O00142-3 ]

    Organism-specific databases

    CTDi 7084.
    GeneCardsi GC16M066542.
    GeneReviewsi TK2.
    H-InvDB HIX0021286.
    HGNCi HGNC:11831. TK2.
    HPAi HPA041162.
    MIMi 188250. gene.
    609560. phenotype.
    neXtProti NX_O00142.
    Orphaneti 254886. Autosomal recessive progressive external ophthalmoplegia.
    254875. Mitochondrial DNA depletion syndrome, myopathic form.
    PharmGKBi PA36535.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1428.
    HOVERGENi HBG006216.
    InParanoidi O00142.
    KOi K00857.
    PhylomeDBi O00142.
    TreeFami TF324413.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS09420-MONOMER.
    BRENDAi 2.7.1.21. 2681.
    Reactomei REACT_471. E2F mediated regulation of DNA replication.
    REACT_655. Pyrimidine salvage reactions.
    REACT_683. G1/S-Specific Transcription.
    SABIO-RK O00142.

    Miscellaneous databases

    GenomeRNAii 7084.
    NextBioi 27709.
    PROi O00142.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00142.
    Bgeei O00142.
    CleanExi HS_TK2.
    Genevestigatori O00142.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR002624. DNK.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    PANTHERi PTHR10513. PTHR10513. 1 hit.
    Pfami PF01712. dNK. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000705. DNK. 1 hit.
    SUPFAMi SSF52540. SSF52540. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2."
      Johansson M., Karlsson A.
      J. Biol. Chem. 272:8454-8458(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
      Tissue: Liver.
    2. "Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates."
      Wang L., Munch-Petersen B., Herrstroem Sjoeberg A., Hellman U., Bergman T., Joernvall H., Eriksson S.
      FEBS Lett. 443:170-174(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), PROTEIN SEQUENCE OF 34-61 (ISOFORM LONG), CHARACTERIZATION.
      Tissue: Brain.
    3. Wang L.
      Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5).
      Tissue: Brain and Testis.
    5. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy."
      Saada A., Shaag A., Mandel H., Nevo Y., Eriksson S., Elpeleg O.
      Nat. Genet. 29:342-344(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MTDPS2 ASN-121 AND ASN-212.
    8. Cited for: VARIANTS MTDPS2 MET-53; MET-108 AND ASN-121.
    9. "Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes."
      Wang L., Limongelli A., Vila M.R., Carrara F., Zeviani M., Eriksson S.
      Mol. Genet. Metab. 84:75-82(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MTDPS2 MET-108 AND LYS-192, CHARACTERIZATION OF VARIANTS MTDPS2 MET-108 AND LYS-192.
    10. "Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion."
      Tulinius M., Moslemi A.-R., Darin N., Holme E., Oldfors A.
      Neuromuscul. Disord. 15:412-415(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MTDPS2 MET-64 AND TRP-183.

    Entry informationi

    Entry nameiKITM_HUMAN
    AccessioniPrimary (citable) accession number: O00142
    Secondary accession number(s): B4DGJ7
    , B4DZK7, B7ZAB1, E9PH08, O15238
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: July 28, 2009
    Last modified: October 1, 2014
    This is version 137 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3