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Aliases for TKT Gene

Aliases for TKT Gene

  • Transketolase 2 3 5
  • EC 2.2.1.1 4 63
  • TK 3 4
  • Epididymis Secretory Protein Li 48 3
  • Epididymis Luminal Protein 107 3
  • Wernicke-Korsakoff Syndrome 2
  • HEL-S-48 3
  • HEL107 3
  • TKT1 3

External Ids for TKT Gene

Previous GeneCards Identifiers for TKT Gene

  • GC03M052351
  • GC03M052511
  • GC03M053114
  • GC03M053217
  • GC03M053233

Summaries for TKT Gene

Entrez Gene Summary for TKT Gene

  • This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for TKT Gene

TKT (Transketolase) is a Protein Coding gene. Diseases associated with TKT include spondylometaepiphyseal dysplasia, short limb-hand type and wernicke-korsakoff syndrome. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor. An important paralog of this gene is TKTL2.

UniProtKB/Swiss-Prot for TKT Gene

  • Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate.

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

Genomics for TKT Gene

Regulatory Elements for TKT Gene

Genomic Location for TKT Gene

Chromosome:
3
Start:
53,224,707 bp from pter
End:
53,256,114 bp from pter
Size:
31,408 bases
Orientation:
Minus strand

Genomic View for TKT Gene

Genes around TKT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TKT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TKT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TKT Gene

Proteins for TKT Gene

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

    Protein Symbol:
    P29401-TKT_HUMAN
    Recommended name:
    Transketolase
    Protein Accession:
    P29401
    Secondary Accessions:
    • A8K089
    • B4DE31
    • E7EPA7
    • Q8TBA3
    • Q96HH3

    Protein attributes for TKT Gene

    Size:
    623 amino acids
    Molecular mass:
    67878 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for TKT Gene

    Alternative splice isoforms for TKT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TKT Gene

Proteomics data for TKT Gene at MOPED

Post-translational modifications for TKT Gene

  • Ubiquitination at Lys 6, Lys 16, Lys 114, Lys 140, Lys 241, Lys 283, Lys 310, Lys 319, Lys 456, Lys 465, Lys 499, and Lys 538
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TKT (TKT)

Domains & Families for TKT Gene

Graphical View of Domain Structure for InterPro Entry

P29401

UniProtKB/Swiss-Prot:

TKT_HUMAN :
  • Belongs to the transketolase family.
Family:
  • Belongs to the transketolase family.
genes like me logo Genes that share domains with TKT: view

No data available for Gene Families for TKT Gene

Function for TKT Gene

Molecular function for TKT Gene

GENATLAS Biochemistry:
transketolase,pentose phosphate pathway
UniProtKB/Swiss-Prot CatalyticActivity:
Sedoheptulose 7-phosphate + D-glyceraldehyde 3-phosphate = D-ribose 5-phosphate + D-xylulose 5-phosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate.

Enzyme Numbers (IUBMB) for TKT Gene

genes like me logo Genes that share phenotypes with TKT: view

Animal Models for TKT Gene

MGI Knock Outs for TKT:

Animal Model Products

  • Taconic Biosciences Mouse Models for TKT

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TKT Gene

Localization for TKT Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TKT Gene COMPARTMENTS Subcellular localization image for TKT gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
peroxisome 5
chloroplast 1
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TKT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome ISS --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with TKT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TKT Gene

Pathways & Interactions for TKT Gene

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

Gene Ontology (GO) - Biological Process for TKT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005999 xylulose biosynthetic process TAS --
GO:0008152 metabolic process IEA --
GO:0009052 pentose-phosphate shunt, non-oxidative branch NAS 9357955
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with TKT: view

No data available for SIGNOR curated interactions for TKT Gene

Drugs & Compounds for TKT Gene

(89) Drugs for TKT Gene - From: HMDB, Novoseek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ganciclovir Approved, Investigational Pharma Target, inducer 140
Penciclovir Approved Pharma Target, inducer 2
Vidarabine Approved Pharma Target, inducer 238
Thiamine Approved Nutra 88,88
Aciclovir Approved Pharma Target, potentiator 0

(89) Additional Compounds for TKT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Aminofructose 6-phosphate
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
D-Erythrose 4-phosphate
  • D-Erythrose 4-phosphate
  • D-Erythrose 4-PO4
  • D-Erythrose-4-P
  • D-Erythrose-4-phosphate
  • Erythrose 4-phosphate
585-18-2
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
  • D-Ribose-5-P
  • D-Ribose-5-phosphate
  • D-Ribose-5-phosphorate
  • D-Ribose-5-phosphoric acid
3615-55-2
D-Ribulose 5-phosphate
  • alpha-D-Ribose 5-phosphate
  • D-Ribulose 5-phosphate
  • Erythro-Pentulose 5-phosphate
  • Ribulose 5-phosphate
  • Ribulose phosphate
4151-19-3
genes like me logo Genes that share compounds with TKT: view

Transcripts for TKT Gene

Unigene Clusters for TKT Gene

Transketolase:
Representative Sequences:

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

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c · 8d ^ 9a ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - -
SP4: - -
SP5: -
SP6: - - -
SP7: -
SP8: -
SP9: - - -
SP10: - - -
SP11:
SP12: - - - - - - - - - - - - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - - - - - - -
SP15:

ExUns: 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - -
SP15:

Relevant External Links for TKT Gene

GeneLoc Exon Structure for
TKT
ECgene alternative splicing isoforms for
TKT

Expression for TKT Gene

mRNA expression in normal human tissues for TKT Gene

mRNA differential expression in normal tissues according to GTEx for TKT Gene

This gene is overexpressed in Whole Blood (x11.8).

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



SOURCE GeneReport for Unigene cluster for TKT Gene Hs.89643

genes like me logo Genes that share expression patterns with TKT: view

Protein tissue co-expression partners for TKT Gene

- Elite partner

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TKT Gene

Orthologs for TKT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TKT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TKT 35
  • 89.73 (n)
  • 93.58 (a)
TKT 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TKT 35
  • 88.18 (n)
  • 91.1 (a)
TKT 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tkt 35
  • 87.35 (n)
  • 94.86 (a)
Tkt 16
Tkt 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TKT 35
  • 99.2 (n)
  • 99.36 (a)
TKT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tkt 35
  • 88 (n)
  • 94.21 (a)
oppossum
(Monodelphis domestica)
Mammalia TKT 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TKT 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves TKT 35
  • 74.54 (n)
  • 84.31 (a)
TKT 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TKT 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tkt 35
  • 74.16 (n)
  • 78.65 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68785 35
zebrafish
(Danio rerio)
Actinopterygii LOC557518 35
  • 70.84 (n)
  • 70.68 (a)
TKT 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5103 37
  • 54 (a)
CG8036 37
  • 58 (a)
CG5103 36
  • 54 (a)
ManyToMany
CG8036 36
  • 59 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F01G10.1 37
  • 60 (a)
tkt-1 36
  • 60 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TKL1 36
  • 24 (a)
ManyToMany
TKL2 36
  • 22 (a)
ManyToMany
TKL1 38
Species with no ortholog for TKT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • 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)

Evolution for TKT Gene

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

Paralogs for TKT Gene

Paralogs for TKT Gene

(4) SIMAP similar genes for TKT Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TKT: view

Variants for TKT Gene

Sequence variations from dbSNP and Humsavar for TKT Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs17052920 - 53,235,071(+) TAGAA(C/T)GGCCA intron-variant, reference, missense
rs3162 -- 53,225,827(+) CAGCA(C/G)CTCAG nc-transcript-variant, reference, missense
rs3163 -- 53,225,834(-) AAGCC(A/G)GCTGA nc-transcript-variant, reference, synonymous-codon
rs728910 -- 53,231,941(+) CTCAG(C/T)TTGTC intron-variant
rs735940 -- 53,232,515(-) TGCCC(A/G)GGGAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834699 CNV Loss 17160897
nsv517233 CNV Loss 19592680
esv1009267 CNV Insertion 20482838
esv1068681 CNV Insertion 17803354
nsv3824 CNV Loss 18451855

Variation tolerance for TKT Gene

Residual Variation Intolerance Score: 59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TKT Gene

HapMap Linkage Disequilibrium report
TKT
Human Gene Mutation Database (HGMD)
TKT

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

Disorders for TKT Gene

MalaCards: The human disease database

(16) MalaCards diseases for TKT Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spondylometaepiphyseal dysplasia, short limb-hand type
  • spondylometaepiphyseal dysplasia short limb-hand type
wernicke-korsakoff syndrome
  • korsakoff syndrome
beriberi
  • thiamine deficiency
wernicke encephalopathy
  • wernicke-korsakoff syndrome
transaldolase deficiency
  • taldo
- elite association - COSMIC cancer census association via MalaCards
Search TKT in MalaCards View complete list of genes associated with diseases

Relevant External Links for TKT

Genetic Association Database (GAD)
TKT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TKT
genes like me logo Genes that share disorders with TKT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TKT Gene

Publications for TKT Gene

  1. Nucleotide and predicted amino acid sequence of a cDNA clone encoding part of human transketolase. (PMID: 1567394) Abedinia M. … Mattick J.S. (Biochem. Biophys. Res. Commun. 1992) 2 3 4 67
  2. Functional flexibility of the transketolase molecule. (PMID: 11736629) Kochetov G.A. (Biochemistry Mosc. 2001) 3 23
  3. Heterologous expression of human transketolase. (PMID: 9611778) Schenk G. … Nixon P.F. (Int. J. Biochem. Cell Biol. 1998) 3 23
  4. Transketolase is a major protein in the mouse cornea. (PMID: 8969223) Sax C.M. … Piatigorsky J. (J. Biol. Chem. 1996) 3 23
  5. Cloning of human transketolase cDNAs and comparison of the nucleotide sequence of the coding region in Wernicke-Korsakoff and non-Wernicke- Korsakoff individuals. (PMID: 8419340) McCool B.A. … Singleton C.K. (J. Biol. Chem. 1993) 3 23

Products for TKT Gene

Sources for TKT Gene

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