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Q9H3S4

- TPK1_HUMAN

UniProt

Q9H3S4 - TPK1_HUMAN

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Protein
Thiamin pyrophosphokinase 1
Gene
TPK1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 diphosphate biosynthetic process Source: UniProtKB-UniPathway
  3. thiamine metabolic process Source: Ensembl
  4. thiamine-containing compound metabolic process Source: Reactome
  5. vitamin metabolic process Source: Reactome
  6. water-soluble vitamin metabolic process Source: Reactome
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 1
PRO_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

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.

Family & Domainsi

Sequence similaritiesi

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.

Sequencei

Sequence statusi: Complete.

Q9H3S4-1 [UniParc]FASTAAdd to Basket

« 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

Sequence cautioni

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

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti193 – 1931M → S1 Publication
Sequence conflicti218 – 2181S → P1 Publication

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.
CH471146 Genomic DNA. Translation: EAW80091.1.
CH471146 Genomic DNA. Translation: EAW80092.1.
BC068460 mRNA. Translation: AAH68460.1.
CCDSiCCDS5888.1.
RefSeqiNP_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.
GeneIDi27010.
KEGGihsa:27010.
UCSCiuc003weq.3. human.

Polymorphism databases

DMDMi44888537.

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 .
CH471146 Genomic DNA. Translation: EAW80091.1 .
CH471146 Genomic DNA. Translation: EAW80092.1 .
BC068460 mRNA. Translation: AAH68460.1 .
CCDSi CCDS5888.1.
RefSeqi 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 .
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

« Hide 'large scale' publications
  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], 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], 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].
  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].
    Tissue: Amygdala and Small intestine.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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].
    Tissue: Hypothalamus.
  7. "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, Q6NUR5, Q9H602
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2001
Last modified: September 3, 2014
This is version 112 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

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