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Aliases for THTPA Gene

Aliases for THTPA Gene

  • Thiamine Triphosphatase 2 3 5
  • EC 3.6.1.28 4 58
  • 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
  • GC14P023548
  • GC14P023556
  • GC14P023658
  • GC14P023695
  • GC14P023872
  • GC14P023931

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. Among its related pathways are Metabolism and Thiamine 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).

Additional gene information for THTPA Gene

No data available for CIViC summary , 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

Enhancers for THTPA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H023284 1.4 ENCODE dbSUPER 19.2 -226.0 -226010 3 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ACIN1 PRMT5 IPO4 HOMEZ RNF31 NGDN THTPA TSSK4 RABGGTA RNA5SP383
GH14H023005 1.4 ENCODE dbSUPER 19 -503.4 -503426 4 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC HAUS4 NGDN ACIN1 PRMT5 RBM23 SLC7A8 PRMT5-AS1 THTPA LOC102724814 C14orf93
GH14H023319 1.2 ENCODE 19.3 -190.0 -190014 3 HDGF FOXA2 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A YBX1 FEZF1 ACIN1 NGDN PRMT5 RNF31 RNA5SP383 HOMEZ IPO4 NOP9 THTPA RBM23
GH14H024113 1.2 ENCODE 19.2 +603.1 603081 3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A RNF31 NFATC4 IPO4 HOMEZ RNA5SP383 TSSK4 TM9SF1 KHNYN NGDN TINF2
GH14H024139 1.2 ENCODE 19.2 +629.2 629236 3 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 EMC9 NFATC4 NGDN HOMEZ IPO4 THTPA TSSK4 LINC00596 RN7SKP205 LOC105370409
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around THTPA on UCSC Golden Path with GeneCards custom track

Genomic Location for THTPA Gene

Chromosome:
14
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

Genes around THTPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THTPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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

Selected DME Specific Peptides for THTPA Gene

Q9BU02:
  • VYLQRFRP
  • DFGYAVGEVEA
  • TEERLQELG

Post-translational modifications for THTPA Gene

  • Ubiquitination at Lys11 and posLast=193193
  • Modification sites at PhosphoSitePlus

Domains & Families for THTPA Gene

Gene Families for THTPA Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for THTPA Gene

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 :
  • Belongs to the ThTPase family.
Family:
  • Belongs to the ThTPase family.
genes like me logo Genes that share domains with THTPA: view

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

Phenotypes From GWAS Catalog 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:0046872 metal ion binding IEA --
GO:0050333 thiamin-triphosphatase activity TAS --
genes like me logo Genes that share ontologies with THTPA: view
genes like me logo Genes that share phenotypes with THTPA: view

Animal Model Products

CRISPR Products

miRNA for THTPA Gene

miRTarBase miRNAs that target THTPA

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for THTPA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THTPA Gene

Localization for THTPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for THTPA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THTPA gene
Compartment Confidence
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for THTPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with THTPA: view

Pathways & Interactions for THTPA Gene

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

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:0006772 thiamine metabolic process TAS 11827967
GO:0016311 dephosphorylation IDA 11827967
GO:0042357 thiamine diphosphate metabolic process ISS --
GO:0042723 thiamine-containing compound metabolic process TAS --
genes like me logo Genes that share ontologies with THTPA: view

No data available for SIGNOR curated interactions for THTPA Gene

Drugs & Compounds for THTPA Gene

(4) Drugs for THTPA Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thiamine Approved, Vet_approved Nutra 106,106
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for THTPA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
thiamine triphosphate
  • Thiamin triphosphate
  • Thiamine triphosphate
  • ThTP
3475-65-8
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Thiamine pyrophosphate
  • Thaimine pyrophosphate
  • Thiamin diphosphate
  • Thiamin pyrophosphate
  • Thiamin-PPi
  • Thiamine diphosphate
154-87-0
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

Clone Products

  • Applied Biological Materials Clones for THTPA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for THTPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THTPA Gene

This gene is overexpressed in Ovary (9.1) and Seminal vesicle (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for THTPA Gene



Protein tissue co-expression partners for THTPA Gene

NURSA nuclear receptor signaling pathways regulating expression of THTPA Gene:

THTPA

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.

Evidence on tissue expression from TISSUES for THTPA Gene

  • Nervous system(4.8)
  • Lung(4)
genes like me logo Genes that share expression patterns with THTPA: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia THTPA 33 34
  • 86.91 (n)
dog
(Canis familiaris)
Mammalia THTPA 33 34
  • 86.67 (n)
rat
(Rattus norvegicus)
Mammalia Thtpa 33
  • 83.1 (n)
mouse
(Mus musculus)
Mammalia Thtpa 33 16 34
  • 82.18 (n)
oppossum
(Monodelphis domestica)
Mammalia THTPA 34
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THTPA 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thtpa 33
  • 53.27 (n)
zebrafish
(Danio rerio)
Actinopterygii thtpa 33 34
  • 48.82 (n)
Species where no ortholog for THTPA was found in the sources mined by GeneCards:
  • 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
rs1000070652 -- 23,521,059(+) CCTGG(A/G)GGCTG intron-variant, utr-variant-3-prime
rs1000180700 -- 23,516,573(+) TCTGA(A/G)ACCTC intron-variant
rs1000308389 -- 23,526,376(+) AGGGC(C/T)GGGCA intron-variant, reference, missense
rs1000375875 -- 23,550,211(+) GCTTC(C/T)CTGGT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000420254 -- 23,520,965(+) GCACG(C/T)ACTCT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for THTPA Gene

Variant ID Type Subtype PubMed ID
nsv477115 CNV novel sequence insertion 20440878
nsv524778 CNV loss 19592680
nsv564043 CNV loss 21841781
nsv564044 CNV loss 21841781
nsv952817 CNV deletion 24416366

Variation tolerance for THTPA Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.38; 76.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for THTPA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
THTPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THTPA Gene

Disorders for THTPA Gene

Relevant External Links for THTPA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
THTPA

No disorders were found for THTPA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 (The Journal of biological chemistry 2002) 2 3 4 22 60
  2. [The rate of molecular evolution of mammalian soluble thiamine triphosphatase]. (PMID: 20387656) Makarchikov AF (Ukrains'kyi biokhimichnyi zhurnal (1999 ) 2009) 3 22 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Human recombinant thiamine triphosphatase: purification, secondary structure and catalytic properties. (PMID: 15109578) Lakaye B … Bettendorff L (The international journal of biochemistry & cell biology 2004) 3 22 60

Products for THTPA Gene

Sources for THTPA Gene

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