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Protein

Thiamine-triphosphatase

Gene

THTPA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Hydrolase highly specific for thiamine triphosphate (ThTP).2 Publications

Catalytic activityi

Thiamine triphosphate + H2O = thiamine diphosphate + phosphate.1 Publication

Cofactori

Mg2+1 PublicationNote: Binds 1 Mg2+ ion per subunit.1 Publication

Kineticsi

  1. KM=8 µM for thiamine triphosphate1 Publication
  1. Vmax=59 µmol/min/mg enzyme1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi7MagnesiumBy similarity1
Metal bindingi9MagnesiumBy similarity1
Binding sitei11Substrate1
Binding sitei55Substrate1
Binding sitei57Substrate1
Binding sitei65Substrate1
Binding sitei125Substrate1
Metal bindingi145MagnesiumBy similarity1
Metal bindingi157MagnesiumBy similarity1
Binding sitei157Substrate1
Metal bindingi159MagnesiumBy similarity1
Binding sitei193SubstrateCurated1

GO - Molecular functioni

  • hydrolase activity Source: UniProtKB
  • magnesium ion binding Source: UniProtKB
  • thiamin-triphosphatase activity Source: UniProtKB

GO - Biological processi

  • dephosphorylation Source: UniProtKB
  • generation of precursor metabolites and energy Source: UniProtKB
  • thiamine-containing compound metabolic process Source: Reactome
  • thiamine diphosphate metabolic process Source: UniProtKB
  • thiamine metabolic process Source: UniProtKB

Keywordsi

Molecular functionHydrolase
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BRENDAi3.6.1.28 2681
ReactomeiR-HSA-196819 Vitamin B1 (thiamin) metabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Thiamine-triphosphatase (EC:3.6.1.28)
Short name:
ThTPase
Gene namesi
Name:THTPA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000259431.5
HGNCiHGNC:18987 THTPA
MIMi611612 gene
neXtProtiNX_Q9BU02

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi11K → A: Mildly decreases enzyme activity. 1 Publication1
Mutagenesisi37D → A: Strongly decreases affinity for thiamine triphosphate and enzyme activity. 1 Publication1
Mutagenesisi39Y → A: Strongly decreases affinity for thiamine triphosphate and enzyme activity. 1 Publication1
Mutagenesisi53W → A: Strongly decreases affinity for thiamine triphosphate and enzyme activity. 1 Publication1
Mutagenesisi65K → A: Strongly decreases enzyme activity. No effect on affinity for thiamine triphosphate. 1 Publication1
Mutagenesisi79Y → A: Decreases enzyme activity. 1 Publication1
Mutagenesisi81E → A: Mildly decreases enzyme activity. 1 Publication1
Mutagenesisi147D → A: Strongly decreases affinity for thiamine triphosphate and enzyme activity. 1 Publication1
Mutagenesisi193K → A: Strongly decreases affinity for thiamine triphosphate and enzyme activity. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000259431
PharmGKBiPA38774

Polymorphism and mutation databases

BioMutaiTHTPA
DMDMi37538018

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002214902 – 230Thiamine-triphosphataseAdd BLAST229

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9BU02
MaxQBiQ9BU02
PaxDbiQ9BU02
PeptideAtlasiQ9BU02
PRIDEiQ9BU02
ProteomicsDBi79039

PTM databases

iPTMnetiQ9BU02
PhosphoSitePlusiQ9BU02

Expressioni

Tissue specificityi

Widely expressed but at a low level.1 Publication

Gene expression databases

BgeeiENSG00000259431
CleanExiHS_THTPA
ExpressionAtlasiQ9BU02 baseline and differential
GenevisibleiQ9BU02 HS

Organism-specific databases

HPAiHPA028876

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi122595, 16 interactors
IntActiQ9BU02, 1 interactor
STRINGi9606.ENSP00000288014

Structurei

Secondary structure

1230
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi5 – 12Combined sources8
Helixi18 – 24Combined sources7
Beta strandi28 – 41Combined sources14
Helixi46 – 49Combined sources4
Beta strandi53 – 57Combined sources5
Turni58 – 60Combined sources3
Beta strandi61 – 70Combined sources10
Beta strandi77 – 82Combined sources6
Helixi85 – 96Combined sources12
Helixi106 – 113Combined sources8
Beta strandi116 – 131Combined sources16
Helixi132 – 135Combined sources4
Beta strandi137 – 139Combined sources3
Beta strandi141 – 149Combined sources9
Beta strandi154 – 164Combined sources11
Helixi165 – 167Combined sources3
Helixi168 – 181Combined sources14
Helixi193 – 201Combined sources9
Helixi203 – 213Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BHDX-ray1.50A/B1-215[»]
3TVLX-ray2.30A/B1-230[»]
ProteinModelPortaliQ9BU02
SMRiQ9BU02
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BU02

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini5 – 201CYTHPROSITE-ProRule annotationAdd BLAST197

Sequence similaritiesi

Belongs to the ThTPase family.Curated

Phylogenomic databases

eggNOGiENOG410J0T6 Eukaryota
ENOG4111XGF LUCA
GeneTreeiENSGT00390000005996
HOGENOMiHOG000154571
HOVERGENiHBG057173
InParanoidiQ9BU02
KOiK05307
OMAiDSGWELK
OrthoDBiEOG091G11DC
PhylomeDBiQ9BU02
TreeFamiTF333398

Family and domain databases

InterProiView protein in InterPro
IPR033469 CYTH-like_dom_sf
IPR023577 CYTH_domain
IPR012177 ThTPase
PfamiView protein in Pfam
PF01928 CYTH, 1 hit
PIRSFiPIRSF036561 ThTPase, 1 hit
SMARTiView protein in SMART
SM01118 CYTH, 1 hit
SUPFAMiSSF55154 SSF55154, 1 hit
PROSITEiView protein in PROSITE
PS51707 CYTH, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BU02-1) [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

        10         20         30         40         50
MAQGLIEVER KFLPGPGTEE RLQELGGTLE YRVTFRDTYY DTPELSLMQA
60 70 80 90 100
DHWLRRREDS GWELKCPGAA GVLGPHTEYK ELTAEPTIVA QLCKVLRADG
110 120 130 140 150
LGAGDVAAVL GPLGLQEVAS FVTKRSAWKL VLLGADEEEP QLRVDLDTAD
160 170 180 190 200
FGYAVGEVEA LVHEEAEVPT ALEKIHRLSS MLGVPAQETA PAKLIVYLQR
210 220 230
FRPQDYQRLL EVNSSRERPQ ETEDPDHCLG
Length:230
Mass (Da):25,566
Last modified:January 23, 2007 - v3
Checksum:i49B79C6C1D19D91D
GO
Isoform 2 (identifier: Q9BU02-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     96-105: LRADGLGAGD → CLHRRQHQPS
     106-230: Missing.

Note: No experimental confirmation available.
Show »
Length:105
Mass (Da):12,038
Checksum:iD326E9A8991B8A1F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062152176H → R. Corresponds to variant dbSNP:rs34015250Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04721396 – 105LRADGLGAGD → CLHRRQHQPS in isoform 2. 1 Publication10
Alternative sequenceiVSP_047214106 – 230Missing in isoform 2. 1 PublicationAdd BLAST125

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF432862 mRNA Translation: AAM22403.1
AK057691 mRNA Translation: BAB71546.1
BX161435 mRNA Translation: CAD61907.1
BX378775 mRNA No translation available.
AL135999 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW66140.1
CH471078 Genomic DNA Translation: EAW66141.1
BC002984 mRNA Translation: AAH02984.1
CCDSiCCDS32053.1 [Q9BU02-1]
CCDS58307.1 [Q9BU02-2]
RefSeqiNP_001119811.1, NM_001126339.3 [Q9BU02-1]
NP_001242991.1, NM_001256062.2 [Q9BU02-2]
NP_001243250.1, NM_001256321.2 [Q9BU02-2]
NP_001243251.1, NM_001256322.2
NP_001243252.1, NM_001256323.2
NP_077304.1, NM_024328.5 [Q9BU02-1]
UniGeneiHs.655179
Hs.732304
Hs.736905

Genome annotation databases

EnsembliENST00000288014; ENSP00000288014; ENSG00000259431 [Q9BU02-1]
ENST00000404535; ENSP00000384580; ENSG00000259431 [Q9BU02-1]
ENST00000554789; ENSP00000450459; ENSG00000259431 [Q9BU02-2]
ENST00000556015; ENSP00000451835; ENSG00000259431 [Q9BU02-2]
GeneIDi79178
KEGGihsa:79178
UCSCiuc001wkg.7 human [Q9BU02-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTHTPA_HUMAN
AccessioniPrimary (citable) accession number: Q9BU02
Secondary accession number(s): D3DS50, G3V4J3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: January 23, 2007
Last modified: June 20, 2018
This is version 147 of the entry and version 3 of the sequence. See 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 14
    Human chromosome 14: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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