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Aliases for TKT Gene

Aliases for TKT Gene

  • Transketolase 2 3 3 5
  • TK 3 4
  • Epididymis Secretory Protein Li 48 3
  • Epididymis Luminal Protein 107 3
  • Wernicke-Korsakoff Syndrome 2
  • EC 2.2.1.1 4
  • 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 Metabolism and Integration of energy metabolism. Gene Ontology (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.

Additional gene information for TKT Gene

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

GeneHancer (GH) Regulatory Elements for TKT Gene

Promoters and enhancers for TKT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J053248 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 660.4 +3.4 3363 7.6 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 TKT PRKCD DCP1A
GH03J053268 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.6 -14.3 -14263 3.6 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 FOS DEK PRKCD SNORD38C TKT SFMBT1 DCP1A PIR47365 GC03M053284
GH03J053345 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 6 -91.2 -91211 2.7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 DCP1A NISCH PBRM1 RFT1 LOC101059924 ENSG00000271976 PHF7 CABYRP1 ENSG00000212608 PRKCD
GH03J053233 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.8 +16.7 16720 10.9 FOXA2 MLX ARID4B SIN3A GLI4 YY1 ZNF766 GLIS2 FOS NFKBIZ PRKCD SNORD38C TKT DCP1A ITIH4 GNL3 STIMATE
GH03J053195 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.9 +59.6 59551 1.8 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 ZNF2 ZBTB7B ZNF48 GLIS2 RFT1 PRKCD PBRM1 SNORD38C TKT DCP1A ITIH4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TKT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TKT gene promoter:
  • p53
  • C/EBPalpha
  • NF-1
  • HFH-1
  • LUN-1
  • Sp1
  • Egr-4

Genomic Locations for TKT Gene

Genomic Locations for TKT Gene
chr3:53,224,707-53,256,114
(GRCh38/hg38)
Size:
31,408 bases
Orientation:
Minus strand
chr3:53,258,723-53,290,130
(GRCh37/hg19)
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

Post-translational modifications for TKT Gene

  • Ubiquitination at posLast=538538, isoforms=2499, posLast=465465, posLast=456456, isoforms=2319, isoforms=2310, isoforms=2283, isoforms=2241, posLast=140140, isoforms=2114, isoforms=216, and isoforms=26
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TKT Gene

Domains & Families for TKT Gene

Gene Families for TKT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

Function for TKT Gene

Molecular function for TKT Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Sedoheptulose 7-phosphate + D-glyceraldehyde 3-phosphate = D-ribose 5-phosphate + D-xylulose 5-phosphate.
GENATLAS Biochemistry:
transketolase,pentose phosphate pathway

Enzyme Numbers (IUBMB) for TKT Gene

Phenotypes From GWAS Catalog 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

Human Phenotype Ontology for TKT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TKT Gene

MGI Knock Outs for TKT:
  • Tkt Tkt<tm1Jpi>

Animal Model Products

  • Taconic Biosciences Mouse Models for TKT

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TKT

No data available for 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

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acyclovir Approved Pharma Target, potentiator 187
Ganciclovir Approved, Investigational Pharma Target, inducer 162
Penciclovir Approved Pharma Target, inducer 7
Vidarabine Approved, Investigational Pharma Target, Target, inducer 542
Thiamine Approved, Investigational, Vet_approved Nutra 116,116

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Thiamine pyrophosphate
  • Thiamin diphosphate
  • Thiamin pyrophosphate
  • Thiamine diphosphate
  • THPP
  • TPP
154-87-0
Aminofructose 6-phosphate
  • amino-D-Fructose 6-phosphate
  • amino-D-Fructose 6-phosphoric acid
  • Aminofructose 6-phosphoric acid
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
D-Erythrose 4-phosphate
  • 4-O-phosphono-D-Erythrose
  • ERYTHOSE-4-phosphATE
  • D-Erythrose 4-phosphoric acid
  • ERYTHOSE-4-phosphoric acid
  • D-Erythrose 4-PO4
585-18-2
D-Ribose 5-phosphate
  • D-Ribose 5'-phosphate
  • D-Ribose-5-P
  • Ribose 5-phosphate
  • D-Ribose 5'-phosphoric acid
  • D-Ribose 5-phosphoric acid
3615-55-2
genes like me logo Genes that share compounds with TKT: view

Transcripts for TKT Gene

Unigene Clusters for TKT Gene

Transketolase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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, 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 33
  • 99.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TKT 34 33
  • 89.73 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TKT 34
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TKT 34 33
  • 88.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tkt 33
  • 88 (n)
mouse
(Mus musculus)
Mammalia Tkt 16 34 33
  • 87.35 (n)
oppossum
(Monodelphis domestica)
Mammalia TKT 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TKT 34 33
  • 74.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TKT 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tkt 33
  • 74.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68785 33
zebrafish
(Danio rerio)
Actinopterygii TKT 34
  • 71 (a)
OneToOne
LOC557518 33
  • 70.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8036 34 35
  • 59 (a)
ManyToMany
CG5103 34 35
  • 54 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tkt-1 34
  • 60 (a)
OneToMany
F01G10.1 35
  • 60 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TKL1 36 34
  • 24 (a)
TKL2 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TKT: view image

Paralogs for TKT Gene

Paralogs for TKT Gene

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

  • TKT_HUMAN
  • B4E022_HUMAN
  • E9PFF2_HUMAN
  • F8W888_HUMAN
  • F8WAX4_HUMAN
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 Variation AA Info Type
rs782092363 pathogenic, Short stature, developmental delay, and congenital heart defects, Short stature, developmental delay, and congenital heart defects (SDDHD) [MIM:617044] 53,230,612(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs868953318 pathogenic, Short stature, developmental delay, and congenital heart defects 53,233,271(-) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs781905246 pathogenic, not provided 53,231,530(-) /CAGAAGATAAGGAGGTAG/NNNNNNNNNNNNNNNNNN coding_sequence_variant, inframe_indel, non_coding_transcript_variant
rs180704294 likely-benign, not provided 53,241,129(-) T/G intron_variant
rs143676012 uncertain-significance, not provided 53,231,401(-) T/G coding_sequence_variant, missense_variant, non_coding_transcript_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)

Additional Variant Information for TKT Gene

Human Gene Mutation Database (HGMD)
TKT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TKT

SNP Genotyping and Copy Number Assay Products

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

Disorders for TKT Gene

MalaCards: The human disease database

(13) MalaCards diseases for TKT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
short stature, developmental delay, and congenital heart defects
  • sddhd
wernicke-korsakoff syndrome
  • transketolase defect
beriberi
  • thiamine deficiency
wernicke encephalopathy
  • wernicke-korsakoff syndrome
transaldolase deficiency
  • eyaid syndrome
- 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.

Additional Disease Information for 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 BA … Singleton CK (The Journal of biological chemistry 1993) 3 4 22 58
  2. Nucleotide and predicted amino acid sequence of a cDNA clone encoding part of human transketolase. (PMID: 1567394) Abedinia M … Mattick JS (Biochemical and biophysical research communications 1992) 2 3 4 58
  3. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. (PMID: 27259054) Boyle L … Chung WK (American journal of human genetics 2016) 3 4 58
  4. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PMID: 21076409) Sotoodehnia N … Arking DE (Nature genetics 2010) 3 44 58
  5. The crystal structure of human transketolase and new insights into its mode of action. (PMID: 20667822) Mitschke L … Tittmann K (The Journal of biological chemistry 2010) 3 4 58

Products for TKT Gene

Sources for TKT Gene

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