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Aliases for THTPA Gene

Aliases for THTPA Gene

  • Thiamine Triphosphatase 2 3
  • EC 3.6.1.28 4 63
  • THTPASE 3 4
  • Thiamine-Triphosphatase 3
  • THTP 3

External Ids for THTPA Gene

Previous GeneCards Identifiers for THTPA Gene

  • GC14P021397
  • GC14P017812
  • GC14P022015
  • GC14P023095
  • GC14P024025
  • GC14P004141

Summaries for THTPA Gene

Entrez Gene Summary for THTPA Gene

  • This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

GeneCards Summary for THTPA Gene

THTPA (Thiamine Triphosphatase) is a Protein Coding gene. Diseases associated with THTPA include wernicke-korsakoff syndrome. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include hydrolase activity and thiamin-triphosphatase activity.

UniProtKB/Swiss-Prot for THTPA Gene

  • Hydrolase highly specific for thiamine triphosphate (ThTP).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THTPA Gene

Genomics for THTPA Gene

Regulatory Elements for THTPA Gene

Genomic Location for THTPA Gene

Start:
23,511,760 bp from pter
End:
23,560,271 bp from pter
Size:
48,512 bases
Orientation:
Plus strand

Genomic View for THTPA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for THTPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THTPA Gene

Proteins for THTPA Gene

  • Protein details for THTPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BU02-THTPA_HUMAN
    Recommended name:
    Thiamine-triphosphatase
    Protein Accession:
    Q9BU02
    Secondary Accessions:
    • D3DS50
    • G3V4J3

    Protein attributes for THTPA Gene

    Size:
    230 amino acids
    Molecular mass:
    25566 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for THTPA Gene

    Alternative splice isoforms for THTPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THTPA Gene

Proteomics data for THTPA Gene at MOPED

Selected DME Specific Peptides for THTPA Gene

Post-translational modifications for THTPA Gene

  • Ubiquitination at Lys11 and Lys193
  • Modification sites at PhosphoSitePlus

Domains for THTPA Gene

Protein Domains for THTPA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for THTPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BU02

UniProtKB/Swiss-Prot:

THTPA_HUMAN :
  • Q9BU02
Domain:
  • Contains 1 CYTH domain.
Family:
  • Belongs to the ThTPase family.
genes like me logo Genes that share domains with THTPA: view

No data available for Gene Families for THTPA Gene

Function for THTPA Gene

Molecular function for THTPA Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=8 uM for thiamine triphosphate {ECO:0000269 PubMed:23707715}; Vmax=59 umol/min/mg enzyme {ECO:0000269 PubMed:23707715};
UniProtKB/Swiss-Prot CatalyticActivity: Thiamine triphosphate + H(2)O = thiamine diphosphate + phosphate.
UniProtKB/Swiss-Prot Function: Hydrolase highly specific for thiamine triphosphate (ThTP).

Enzyme Numbers (IUBMB) for THTPA Gene

Gene Ontology (GO) - Molecular Function for THTPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding ISS --
GO:0016787 hydrolase activity TAS 11827967
GO:0050333 thiamin-triphosphatase activity TAS --
genes like me logo Genes that share ontologies with THTPA: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for THTPA

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for THTPA Gene

Localization for THTPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for THTPA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for THTPA Gene COMPARTMENTS Subcellular localization image for THTPA gene
Compartment Confidence
cytosol 4
nucleus 4
extracellular 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for THTPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with THTPA: view

Pathways for THTPA Gene

genes like me logo Genes that share pathways with THTPA: view

Interacting Proteins for THTPA Gene

Gene Ontology (GO) - Biological Process for THTPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy NAS 11827967
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006772 thiamine metabolic process TAS 11827967
GO:0016311 dephosphorylation IDA 11827967
genes like me logo Genes that share ontologies with THTPA: view

Compounds for THTPA Gene

(5) HMDB Compounds for THTPA Gene

Compound Synonyms Cas Number PubMed IDs
Phosphate
  • NFB Orthophosphate
14265-44-2
Thiamine
  • Aneurin
59-43-8
Thiamine pyrophosphate
  • TPP
154-87-0
Thiamine triphosphate
  • Thiamin triphosphate
3475-65-8
Water
  • Dihydrogen oxide
7732-18-5

(3) Novoseek inferred chemical compound relationships for THTPA Gene

Compound -log(P) Hits PubMed IDs
thiamine triphosphate 98.3 7
thiamine 84.5 14
atp 12.7 1
genes like me logo Genes that share compounds with THTPA: view

Transcripts for THTPA Gene

Unigene Clusters for THTPA Gene

Thiamine triphosphatase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for THTPA

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for THTPA Gene

No ASD Table

Relevant External Links for THTPA Gene

GeneLoc Exon Structure for
THTPA
ECgene alternative splicing isoforms for
THTPA

Expression for THTPA Gene

mRNA expression in normal human tissues for THTPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for THTPA Gene

SOURCE GeneReport for Unigene cluster for THTPA Gene Hs.655179

mRNA Expression by UniProt/SwissProt for THTPA Gene

Q9BU02-THTPA_HUMAN
Tissue specificity: Widely expressed but at a low level.
genes like me logo Genes that share expressions with THTPA: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for THTPA Gene

Orthologs for THTPA Gene

This gene was present in the common ancestor of chordates.

Orthologs for THTPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THTPA 35
  • 99.13 (n)
  • 98.26 (a)
THTPA 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia THTPA 35
  • 86.91 (n)
  • 84.47 (a)
THTPA 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia THTPA 35
  • 86.67 (n)
  • 79.13 (a)
THTPA 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Thtpa 35
  • 82.18 (n)
  • 74.65 (a)
Thtpa 16
Thtpa 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia THTPA 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thtpa 35
  • 83.1 (n)
  • 73.73 (a)
lizard
(Anolis carolinensis)
Reptilia THTPA 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thtpa 35
  • 53.27 (n)
  • 44.61 (a)
zebrafish
(Danio rerio)
Actinopterygii thtpa 35
  • 48.82 (n)
  • 39.9 (a)
thtpa 36
  • 32 (a)
OneToOne
Species with no ortholog for THTPA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for THTPA Gene

ENSEMBL:
Gene Tree for THTPA (if available)
TreeFam:
Gene Tree for THTPA (if available)

Paralogs for THTPA Gene

No data available for Paralogs for THTPA Gene

Variants for THTPA Gene

Sequence variations from dbSNP and Humsavar for THTPA Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs222670 -- 23,515,634(+) CCCAG(C/T)GACTG intron-variant
rs222671 -- 23,516,764(+) GCAGA(A/G)GATGC intron-variant
rs222672 -- 23,516,984(+) ACCCC(A/G)GGTGC intron-variant
rs222673 -- 23,518,055(+) TTGGG(A/G)TATGT intron-variant
rs222674 -- 23,518,781(+) GAGAA(A/G)TACCA intron-variant

Relevant External Links for THTPA Gene

HapMap Linkage Disequilibrium report
THTPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for THTPA Gene

Disorders for THTPA Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for THTPA Gene including...

Search for THTPA Gene in MalaCards »

(1) University of Copenhagen DISEASES for THTPA Gene

(1) Novoseek inferred disease relationships for THTPA Gene

Disease -log(P) Hits PubMed IDs
thiamine deficiency 71.9 2
genes like me logo Genes that share disorders with THTPA: view

No data available for UniProtKB/Swiss-Prot for THTPA Gene

Publications for THTPA Gene

  1. Molecular characterization of a specific thiamine triphosphatase widely expressed in mammalian tissues. (PMID: 11827967) Lakaye B. … Bettendorff L. (J. Biol. Chem. 2002) 2 3 4 23
  2. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Human recombinant thiamine triphosphatase: purification, secondary structure and catalytic properties. (PMID: 15109578) Lakaye B. … Bettendorff L. (Int. J. Biochem. Cell Biol. 2004) 3 23
  5. [The rate of molecular evolution of mammalian soluble thiamine triphosphatase]. (PMID: 20387656) Makarchikov A.F. (Ukr. Biokhim. Zh. 2009) 3 23

Products for THTPA Gene

Sources for THTPA Gene

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