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Aliases for TKT Gene

Aliases for TKT Gene

  • Transketolase 2 3 3 5
  • EC 2.2.1.1 4 61
  • TK 3 4
  • Epididymis Secretory Protein Li 48 3
  • Epididymis Luminal Protein 107 3
  • Wernicke-Korsakoff Syndrome 2
  • HEL-S-48 3
  • HEL107 3
  • SDDHD 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 Short Stature, Developmental Delay, And Congenital Heart Defects and Wernicke-Korsakoff Syndrome. Among its related pathways are Pentose phosphate pathway 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 CIViC summary , 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

Enhancers for TKT 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
GH03G053248 1.7 FANTOM5 ENCODE dbSUPER 10.4 +3.4 3363 7.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 PRKCD WDR82 TKT DCP1A
GH03G053233 2 FANTOM5 Ensembl ENCODE dbSUPER 8.8 +16.7 16720 10.9 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 PRKCD ENSG00000207109 TKT DCP1A ITIH4 GNL3 TMEM110
GH03G053268 2 FANTOM5 Ensembl ENCODE dbSUPER 8.7 -14.3 -14263 3.6 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 FOS KLF13 PRKCD WDR82 ENSG00000207109 TKT SFMBT1 DCP1A GC03M053284 PIR47365
GH03G053345 1.5 FANTOM5 ENCODE 6 -91.2 -91212 2.7 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC ENSG00000271976 DCP1A ENSG00000212608 PRKCD NT5DC2 TKT TMEM110 ENSG00000207109
GH03G053195 1.5 Ensembl ENCODE dbSUPER 5.9 +59.6 59552 1.8 HDGF PKNOX1 ARNT CREB3L1 AGO1 ARID4B YBX1 BRCA1 ZNF2 ZNF48 RFT1 PRKCD ENSG00000207109 TKT DCP1A ITIH4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TKT on UCSC Golden Path with GeneCards custom track

Promoters for TKT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152658 714 2001 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143

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

Selected DME Specific Peptides for TKT Gene

P29401:
  • FAAFFTRAFDQ
  • EDAPSVDI
  • ACGMAYTGKY
  • YKVGDKIATRKAYG
  • VPRSGKPAELLKMFGID
  • ESWHGKP
  • FTIKPLD
  • DVATGSLGQGLG
  • VIGAGVTLHEAL
  • STVFYPSDGV
  • DRFVLSKGHAAP
  • DINRLGQSDPAPLQHQ
  • LDNLVAI
  • IVDGHSVEELCKAFGQ
  • GQAKVVLK
  • DKASYRV
  • FKKEHPDRFIECYIAEQNMVSIAVGCATR
  • VLFFHTM
  • SEGSVWEA
  • MALEDLAMFR
  • GGIGEAV
  • GHAAPILYA
  • IRTSRPE
  • YHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCC
  • TLHEALAAA
  • TSCCSAAE
  • GSHCGVS
  • PTAIIAKT
  • LDGDTKNSTFS

Post-translational modifications for TKT Gene

  • Ubiquitination at Lys6, Lys16, Lys114, Lys140, isoforms=2241, Lys283, Lys310, Lys319, Lys456, posLast=465465, Lys499, and Lys538
  • Modification sites at PhosphoSitePlus

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

Gene Ontology (GO) - Molecular Function for TKT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004802 transketolase activity IDA,EXP 8419340
GO:0005515 protein binding IPI 21044950
GO:0016740 transferase activity IEA --
GO:0042803 protein homodimerization activity IDA 9357955
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TKT: view
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TKT
  • Applied Biological Materials Clones for TKT

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TKT Gene

Localization for TKT Gene

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 TKT gene
Compartment Confidence
extracellular 5
peroxisome 5
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TKT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005777 peroxisome ISS --
GO:0005829 cytosol TAS --
GO:0016604 nuclear body IDA --
GO:0016607 nuclear speck IDA --
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:0006098 pentose-phosphate shunt TAS --
GO:0008152 metabolic process IEA --
GO:0009052 pentose-phosphate shunt, non-oxidative branch NAS 9357955
GO:0040008 regulation of growth IEA --
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: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ganciclovir Approved, Investigational Pharma Target, inducer 153
Penciclovir Approved Pharma Target, inducer 2
Vidarabine Approved Pharma Target, inducer 521
Thiamine Approved, Vet_approved Nutra 101,101
Aciclovir Approved Pharma Target, potentiator 0

(90) 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

(1) ApexBio Compounds for TKT Gene

Compound Action Cas Number
N3PT Transketolase(TK) inhibitor 13860-66-7
genes like me logo Genes that share compounds with TKT: view

Drug Products

Transcripts for TKT Gene

Unigene Clusters for TKT Gene

Transketolase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TKT
  • Applied Biological Materials Clones for TKT

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TKT Gene



Protein tissue co-expression partners for TKT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TKT Gene:

TKT

SOURCE GeneReport for Unigene cluster for TKT Gene:

Hs.89643

Evidence on tissue expression from TISSUES for TKT Gene

  • Blood(5)
  • Nervous system(5)
  • Kidney(4.8)
  • Liver(4.8)
  • Lung(4.6)
  • Skin(4.6)
  • Eye(4.4)
  • Intestine(4.4)
  • Pancreas(3.1)
  • Spleen(2.9)
  • Bone marrow(2.5)
  • Gall bladder(2.5)
  • Heart(2.5)
  • Thyroid gland(2.5)
  • Lymph node(2.2)
  • Stomach(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with TKT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TKT 34 35
  • 99.2 (n)
cow
(Bos Taurus)
Mammalia TKT 34 35
  • 89.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TKT 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TKT 34 35
  • 88.18 (n)
rat
(Rattus norvegicus)
Mammalia Tkt 34
  • 88 (n)
mouse
(Mus musculus)
Mammalia Tkt 34 16 35
  • 87.35 (n)
oppossum
(Monodelphis domestica)
Mammalia TKT 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TKT 34 35
  • 74.54 (n)
lizard
(Anolis carolinensis)
Reptilia TKT 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tkt 34
  • 74.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68785 34
zebrafish
(Danio rerio)
Actinopterygii TKT 35
  • 71 (a)
OneToOne
LOC557518 34
  • 70.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8036 36 35
  • 58 (a)
CG5103 36 35
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea F01G10.1 36
  • 60 (a)
tkt-1 35
  • 60 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TKL1 35 37
  • 24 (a)
ManyToMany
TKL2 35
  • 22 (a)
ManyToMany
Species where no ortholog for TKT was found in the sources mined by GeneCards:
  • 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
rs782092363 Pathogenic, Short stature, developmental delay, and congenital heart defects (SDDHD) [MIM:617044] 53,230,612(+) CTTGC(A/G)GGTGG nc-transcript-variant, reference, missense
rs869312974 Pathogenic 53,233,271(-) AGTTG(A/G)CATGC nc-transcript-variant, reference, stop-gained
rs869312975 Pathogenic 53,231,529(-) GTCTT(-/CTACCTCCTTATCTTCTG/NNNNNNNNNNNNNNNNNN)GGCAT nc-transcript-variant, cds-indel
rs782597207 Uncertain significance 53,242,217(+) CTCTG(C/T)GGCGC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000110061 -- 53,229,502(+) AGGAC(C/T)CCTTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv1009267 CNV insertion 20482838
esv1068681 CNV insertion 17803354
esv3328474 CNV duplication 20981092
esv3444835 CNV insertion 20981092
nsv3824 CNV deletion 18451855
nsv517233 CNV loss 19592680
nsv834699 CNV loss 17160897
nsv954864 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
TKT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
short stature, developmental delay, and congenital heart defects
  • sddhd
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

UniProtKB/Swiss-Prot

TKT_HUMAN
  • Short stature, developmental delay, and congenital heart defects (SDDHD) [MIM:617044]: An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients. {ECO:0000269 PubMed:27259054}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 Genatlas for TKT Gene

Publications for TKT Gene

  1. 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 4 22 64
  2. 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 64
  3. Mutations in TKT are the cause of a syndrome including short stature, developmental delay, and congenital heart defects. (PMID: 27259054) Boyle L. … Chung W.K. (Am. J. Hum. Genet. 2016) 3 4 64
  4. The crystal structure of human transketolase and new insights into its mode of action. (PMID: 20667822) Mitschke L. … Tittmann K. (J. Biol. Chem. 2010) 3 4 64
  5. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PMID: 21076409) Sotoodehnia N. … Arking D.E. (Nat. Genet. 2010) 3 46 64

Products for TKT Gene

  • Addgene plasmids for TKT

Sources for TKT Gene

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