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Q9H3S4

- TPK1_HUMAN

UniProt

Q9H3S4 - TPK1_HUMAN

Protein

Thiamin pyrophosphokinase 1

Gene

TPK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.1 Publication

    Catalytic activityi

    ATP + thiamine = AMP + thiamine diphosphate.

    Pathwayi

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. kinase activity Source: UniProtKB-KW
    3. thiamine diphosphokinase activity Source: Reactome

    GO - Biological processi

    1. small molecule metabolic process Source: Reactome
    2. thiamine-containing compound metabolic process Source: Reactome
    3. thiamine diphosphate biosynthetic process Source: UniProtKB-UniPathway
    4. thiamine metabolic process Source: Ensembl
    5. vitamin metabolic process Source: Reactome
    6. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi2.7.6.2. 2681.
    ReactomeiREACT_11117. Vitamin B1 (thiamin) metabolism.
    UniPathwayiUPA00060; UER00597.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Thiamin pyrophosphokinase 1 (EC:2.7.6.2)
    Short name:
    hTPK1
    Alternative name(s):
    Placental protein 20
    Short name:
    PP20
    Thiamine pyrophosphokinase 1
    Gene namesi
    Name:TPK1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:17358. TPK1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401L → P in THMD5. 1 Publication
    VAR_067391
    Natural varianti50 – 501N → H in THMD5. 1 Publication
    VAR_067392
    Natural varianti219 – 2191N → S in THMD5. 1 Publication
    VAR_067393

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614458. phenotype.
    Orphaneti293955. Childhood encephalopathy due to thiamine pyrophosphokinase deficiency.
    PharmGKBiPA38235.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 243243Thiamin pyrophosphokinase 1PRO_0000072647Add
    BLAST

    Proteomic databases

    MaxQBiQ9H3S4.
    PaxDbiQ9H3S4.
    PRIDEiQ9H3S4.

    PTM databases

    PhosphoSiteiQ9H3S4.

    Expressioni

    Tissue specificityi

    Detected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues.2 Publications

    Gene expression databases

    ArrayExpressiQ9H3S4.
    BgeeiQ9H3S4.
    CleanExiHS_TPK1.
    GenevestigatoriQ9H3S4.

    Organism-specific databases

    HPAiHPA021545.
    HPA021849.

    Interactioni

    Subunit structurei

    Homodimer.

    Protein-protein interaction databases

    IntActiQ9H3S4. 1 interaction.
    MINTiMINT-3067490.
    STRINGi9606.ENSP00000353165.

    Structurei

    Secondary structure

    1
    243
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi19 – 235
    Helixi32 – 387
    Beta strandi42 – 454
    Helixi48 – 558
    Turni56 – 583
    Helixi60 – 623
    Beta strandi66 – 705
    Beta strandi73 – 753
    Helixi77 – 859
    Beta strandi89 – 924
    Helixi100 – 11415
    Beta strandi120 – 1256
    Beta strandi128 – 1314
    Helixi132 – 14413
    Helixi145 – 1473
    Beta strandi153 – 1575
    Beta strandi160 – 1656
    Beta strandi167 – 1737
    Beta strandi179 – 1868
    Beta strandi192 – 20211
    Beta strandi205 – 2106
    Turni211 – 2133
    Beta strandi216 – 2194
    Beta strandi225 – 2339
    Beta strandi235 – 2417

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1OLYmodel-A/B1-243[»]
    3S4YX-ray1.80A/B15-243[»]
    ProteinModelPortaliQ9H3S4.
    SMRiQ9H3S4. Positions 16-242.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the thiamine pyrophosphokinase family.Curated

    Phylogenomic databases

    eggNOGiCOG1564.
    HOGENOMiHOG000180834.
    HOVERGENiHBG003568.
    InParanoidiQ9H3S4.
    KOiK00949.
    OMAiNYFRHLW.
    PhylomeDBiQ9H3S4.
    TreeFamiTF313224.

    Family and domain databases

    Gene3Di2.60.120.320. 1 hit.
    3.40.50.10240. 1 hit.
    InterProiIPR006282. Thi_PPkinase.
    IPR016966. Thiamin_pyrophosphokinase_euk.
    IPR007373. Thiamin_PyroPKinase_B1-bd.
    IPR007371. TPK_catalytic.
    [Graphical view]
    PfamiPF04265. TPK_B1_binding. 1 hit.
    PF04263. TPK_catalytic. 1 hit.
    [Graphical view]
    PIRSFiPIRSF031057. Thiamin_pyrophosphokinase. 1 hit.
    SMARTiSM00983. TPK_B1_binding. 1 hit.
    [Graphical view]
    SUPFAMiSSF63862. SSF63862. 1 hit.
    SSF63999. SSF63999. 1 hit.
    TIGRFAMsiTIGR01378. thi_PPkinase. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H3S4-1) [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

    MEHAFTPLEP LLSTGNLKYC LVILNQPLDN YFRHLWNKAL LRACADGGAN    50
    RLYDITEGER ESFLPEFING DFDSIRPEVR EYYATKGCEL ISTPDQDHTD 100
    FTKCLKMLQK KIEEKDLKVD VIVTLGGLAG RFDQIMASVN TLFQATHITP 150
    FPIIIIQEES LIYLLQPGKH RLHVDTGMEG DWCGLIPVGQ PCMQVTTTGL 200
    KWNLTNDVLA FGTLVSTSNT YDGSGVVTVE TDHPLLWTMA IKS 243
    Length:243
    Mass (Da):27,265
    Last modified:March 1, 2001 - v1
    Checksum:iF7E96F8127CB4FA5
    GO
    Isoform 2 (identifier: Q9H3S4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-118: MEHAFTPLEP...QKKIEEKDLK → M
         205-243: TNDVLAFGTL...PLLWTMAIKS → RTCDYTRTTW...HICKVPLAIK

    Note: No experimental confirmation available.

    Show »
    Length:124
    Mass (Da):13,962
    Checksum:i846C51E4808F336E
    GO

    Sequence cautioni

    The sequence BAB15465.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti193 – 1931M → S(PubMed:15489334)Curated
    Sequence conflicti218 – 2181S → P(PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401L → P in THMD5. 1 Publication
    VAR_067391
    Natural varianti50 – 501N → H in THMD5. 1 Publication
    VAR_067392
    Natural varianti219 – 2191N → S in THMD5. 1 Publication
    VAR_067393

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 118118MEHAF…EKDLK → M in isoform 2. 1 PublicationVSP_056302Add
    BLAST
    Alternative sequencei205 – 24339TNDVL…MAIKS → RTCDYTRTTWIAKDNPVPRL IRLIRLNHICKVPLAIK in isoform 2. 1 PublicationVSP_056303Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB028138 mRNA. Translation: BAB20326.1.
    AF297710 mRNA. Translation: AAK01351.1.
    AY206415 mRNA. Translation: AAO38775.1.
    AK026374 mRNA. Translation: BAB15465.1. Different initiation.
    AK289652 mRNA. Translation: BAF82341.1.
    AC004534 Genomic DNA. No translation available.
    AC004743 Genomic DNA. No translation available.
    AC004833 Genomic DNA. No translation available.
    AC004864 Genomic DNA. No translation available.
    AC005677 Genomic DNA. No translation available.
    AC074384 Genomic DNA. No translation available.
    CH471146 Genomic DNA. Translation: EAW80091.1.
    CH471146 Genomic DNA. Translation: EAW80092.1.
    BC040555 mRNA. Translation: AAH40555.1.
    BC068460 mRNA. Translation: AAH68460.1.
    CCDSiCCDS5888.1.
    RefSeqiNP_001035947.1. NM_001042482.1.
    NP_071890.2. NM_022445.3.
    XP_005250027.1. XM_005249970.1.
    XP_005250028.1. XM_005249971.2.
    XP_006715988.1. XM_006715925.1.
    UniGeneiHs.660232.

    Genome annotation databases

    EnsembliENST00000360057; ENSP00000353165; ENSG00000196511.
    ENST00000549981; ENSP00000448698; ENSG00000196511.
    GeneIDi27010.
    KEGGihsa:27010.
    UCSCiuc003weq.3. human.

    Polymorphism databases

    DMDMi44888537.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB028138 mRNA. Translation: BAB20326.1 .
    AF297710 mRNA. Translation: AAK01351.1 .
    AY206415 mRNA. Translation: AAO38775.1 .
    AK026374 mRNA. Translation: BAB15465.1 . Different initiation.
    AK289652 mRNA. Translation: BAF82341.1 .
    AC004534 Genomic DNA. No translation available.
    AC004743 Genomic DNA. No translation available.
    AC004833 Genomic DNA. No translation available.
    AC004864 Genomic DNA. No translation available.
    AC005677 Genomic DNA. No translation available.
    AC074384 Genomic DNA. No translation available.
    CH471146 Genomic DNA. Translation: EAW80091.1 .
    CH471146 Genomic DNA. Translation: EAW80092.1 .
    BC040555 mRNA. Translation: AAH40555.1 .
    BC068460 mRNA. Translation: AAH68460.1 .
    CCDSi CCDS5888.1.
    RefSeqi NP_001035947.1. NM_001042482.1.
    NP_071890.2. NM_022445.3.
    XP_005250027.1. XM_005249970.1.
    XP_005250028.1. XM_005249971.2.
    XP_006715988.1. XM_006715925.1.
    UniGenei Hs.660232.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1OLY model - A/B 1-243 [» ]
    3S4Y X-ray 1.80 A/B 15-243 [» ]
    ProteinModelPortali Q9H3S4.
    SMRi Q9H3S4. Positions 16-242.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9H3S4. 1 interaction.
    MINTi MINT-3067490.
    STRINGi 9606.ENSP00000353165.

    Chemistry

    ChEMBLi CHEMBL6155.
    DrugBanki DB00152. Thiamine.

    PTM databases

    PhosphoSitei Q9H3S4.

    Polymorphism databases

    DMDMi 44888537.

    Proteomic databases

    MaxQBi Q9H3S4.
    PaxDbi Q9H3S4.
    PRIDEi Q9H3S4.

    Protocols and materials databases

    DNASUi 27010.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360057 ; ENSP00000353165 ; ENSG00000196511 .
    ENST00000549981 ; ENSP00000448698 ; ENSG00000196511 .
    GeneIDi 27010.
    KEGGi hsa:27010.
    UCSCi uc003weq.3. human.

    Organism-specific databases

    CTDi 27010.
    GeneCardsi GC07M144149.
    HGNCi HGNC:17358. TPK1.
    HPAi HPA021545.
    HPA021849.
    MIMi 606370. gene.
    614458. phenotype.
    neXtProti NX_Q9H3S4.
    Orphaneti 293955. Childhood encephalopathy due to thiamine pyrophosphokinase deficiency.
    PharmGKBi PA38235.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1564.
    HOGENOMi HOG000180834.
    HOVERGENi HBG003568.
    InParanoidi Q9H3S4.
    KOi K00949.
    OMAi NYFRHLW.
    PhylomeDBi Q9H3S4.
    TreeFami TF313224.

    Enzyme and pathway databases

    UniPathwayi UPA00060 ; UER00597 .
    BRENDAi 2.7.6.2. 2681.
    Reactomei REACT_11117. Vitamin B1 (thiamin) metabolism.

    Miscellaneous databases

    ChiTaRSi TPK1. human.
    GeneWikii TPK1.
    GenomeRNAii 27010.
    NextBioi 49516.
    PROi Q9H3S4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H3S4.
    Bgeei Q9H3S4.
    CleanExi HS_TPK1.
    Genevestigatori Q9H3S4.

    Family and domain databases

    Gene3Di 2.60.120.320. 1 hit.
    3.40.50.10240. 1 hit.
    InterProi IPR006282. Thi_PPkinase.
    IPR016966. Thiamin_pyrophosphokinase_euk.
    IPR007373. Thiamin_PyroPKinase_B1-bd.
    IPR007371. TPK_catalytic.
    [Graphical view ]
    Pfami PF04265. TPK_B1_binding. 1 hit.
    PF04263. TPK_catalytic. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF031057. Thiamin_pyrophosphokinase. 1 hit.
    SMARTi SM00983. TPK_B1_binding. 1 hit.
    [Graphical view ]
    SUPFAMi SSF63862. SSF63862. 1 hit.
    SSF63999. SSF63999. 1 hit.
    TIGRFAMsi TIGR01378. thi_PPkinase. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and characterization of a human thiamine pyrophosphokinase cDNA."
      Nosaka K., Onozuka M., Kakazu N., Hibi S., Nishimura H., Nishino H., Abe T.
      Biochim. Biophys. Acta 1517:293-297(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
      Tissue: Liver.
    2. "Molecular cloning of human thiamin pyrophosphokinase."
      Zhao R., Gao F., Goldman I.D.
      Biochim. Biophys. Acta 1517:320-322(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Liver.
    3. "Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK)."
      Bellyei S., Szigeti A., Boronkai A., Szabo Z., Bene J., Janaky T., Barna L., Sipos K., Minik O., Kravjak A., Ohmacht R., Melegh B., Zavodszky P., Than G.N., Sumegi B., Bohn H., Than N.G.
      Placenta 26:34-46(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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] (ISOFORM 1).
      Tissue: Amygdala and Small intestine.
    5. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Hypothalamus and Testis.
    8. "Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway."
      Mayr J.A., Freisinger P., Schlachter K., Rolinski B., Zimmermann F.A., Scheffner T., Haack T.B., Koch J., Ahting U., Prokisch H., Sperl W.
      Am. J. Hum. Genet. 89:806-812(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS THMD5 PRO-40; HIS-50 AND SER-219.

    Entry informationi

    Entry nameiTPK1_HUMAN
    AccessioniPrimary (citable) accession number: Q9H3S4
    Secondary accession number(s): A8K0T7
    , D3DWG0, I6L9B8, Q6NUR5, Q9H602
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 1, 2004
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 113 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3