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Q9H3S4 (TPK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Thiamin pyrophosphokinase 1

Short name=hTPK1
EC=2.7.6.2
Alternative name(s):
Placental protein 20
Short name=PP20
Thiamine pyrophosphokinase 1
Gene names
Name:TPK1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length243 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Catalytic activity

ATP + thiamine = AMP + thiamine diphosphate.

Pathway

Cofactor biosynthesis; thiamine diphosphate biosynthesis; thiamine diphosphate from thiamine: step 1/1.

Subunit structure

Homodimer.

Tissue specificity

Detected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues. Ref.1 Ref.2

Involvement in disease

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. Ref.7

Sequence similarities

Belongs to the thiamine pyrophosphokinase family.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 243243Thiamin pyrophosphokinase 1
PRO_0000072647

Natural variations

Natural variant401L → P in THMD5. Ref.7
VAR_067391
Natural variant501N → H in THMD5. Ref.7
VAR_067392
Natural variant2191N → S in THMD5. Ref.7
VAR_067393

Experimental info

Sequence conflict1931M → S Ref.6
Sequence conflict2181S → P Ref.4

Secondary structure

............................................... 243
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9H3S4 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: F7E96F8127CB4FA5

FASTA24327,265
        10         20         30         40         50         60 
MEHAFTPLEP LLSTGNLKYC LVILNQPLDN YFRHLWNKAL LRACADGGAN RLYDITEGER 

        70         80         90        100        110        120 
ESFLPEFING DFDSIRPEVR EYYATKGCEL ISTPDQDHTD FTKCLKMLQK KIEEKDLKVD 

       130        140        150        160        170        180 
VIVTLGGLAG RFDQIMASVN TLFQATHITP FPIIIIQEES LIYLLQPGKH RLHVDTGMEG 

       190        200        210        220        230        240 
DWCGLIPVGQ PCMQVTTTGL KWNLTNDVLA FGTLVSTSNT YDGSGVVTVE TDHPLLWTMA 


IKS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5888.1.
RefSeqNP_071890.2. NM_022445.3.
XP_005250027.1. XM_005249970.1.
XP_005250028.1. XM_005249971.2.
XP_006715988.1. XM_006715925.1.
UniGeneHs.660232.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1OLYmodel-A/B1-243[»]
3S4YX-ray1.80A/B15-243[»]
ProteinModelPortalQ9H3S4.
SMRQ9H3S4. Positions 16-242.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9H3S4. 1 interaction.
MINTMINT-3067490.
STRING9606.ENSP00000353165.

Chemistry

ChEMBLCHEMBL6155.
DrugBankDB00152. Thiamine.

PTM databases

PhosphoSiteQ9H3S4.

Polymorphism databases

DMDM44888537.

Proteomic databases

MaxQBQ9H3S4.
PaxDbQ9H3S4.
PRIDEQ9H3S4.

Protocols and materials databases

DNASU27010.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360057; ENSP00000353165; ENSG00000196511.
GeneID27010.
KEGGhsa:27010.
UCSCuc003weq.3. human.

Organism-specific databases

CTD27010.
GeneCardsGC07M144149.
HGNCHGNC:17358. TPK1.
HPAHPA021545.
HPA021849.
MIM606370. gene.
614458. phenotype.
neXtProtNX_Q9H3S4.
Orphanet293955. Childhood encephalopathy due to thiamine pyrophosphokinase deficiency.
PharmGKBPA38235.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1564.
HOGENOMHOG000180834.
HOVERGENHBG003568.
InParanoidQ9H3S4.
KOK00949.
OMANYFRHLW.
PhylomeDBQ9H3S4.
TreeFamTF313224.

Enzyme and pathway databases

BRENDA2.7.6.2. 2681.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
UniPathwayUPA00060; UER00597.

Gene expression databases

ArrayExpressQ9H3S4.
BgeeQ9H3S4.
CleanExHS_TPK1.
GenevestigatorQ9H3S4.

Family and domain databases

Gene3D2.60.120.320. 1 hit.
3.40.50.10240. 1 hit.
InterProIPR006282. Thi_PPkinase.
IPR016966. Thiamin_pyrophosphokinase_euk.
IPR007373. Thiamin_PyroPKinase_B1-bd.
IPR007371. TPK_catalytic.
[Graphical view]
PfamPF04265. TPK_B1_binding. 1 hit.
PF04263. TPK_catalytic. 1 hit.
[Graphical view]
PIRSFPIRSF031057. Thiamin_pyrophosphokinase. 1 hit.
SMARTSM00983. TPK_B1_binding. 1 hit.
[Graphical view]
SUPFAMSSF63862. SSF63862. 1 hit.
SSF63999. SSF63999. 1 hit.
TIGRFAMsTIGR01378. thi_PPkinase. 1 hit.
ProtoNetSearch...

Other

ChiTaRSTPK1. human.
GeneWikiTPK1.
GenomeRNAi27010.
NextBio49516.
PROQ9H3S4.
SOURCESearch...

Entry information

Entry nameTPK1_HUMAN
AccessionPrimary (citable) accession number: Q9H3S4
Secondary accession number(s): A8K0T7 expand/collapse secondary AC list , D3DWG0, Q6NUR5, Q9H602
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM