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Aliases for TKTL1 Gene

Aliases for TKTL1 Gene

  • Transketolase Like 1 2 3 5
  • Transketolase-Related Protein 3 4
  • EC 4 56
  • TK 2 3 4
  • TKT2 3 4
  • TKR 3 4
  • Transketolase-Like Protein 1 3
  • Transketolase-2 3
  • Transketolase 2 4

External Ids for TKTL1 Gene

Previous GeneCards Identifiers for TKTL1 Gene

  • GC0XP147587
  • GC0XP149914
  • GC0XP151109
  • GC0XP152001
  • GC0XP151992
  • GC0XP153044
  • GC0XP153178
  • GC0XP153524
  • GC0XP142101

Summaries for TKTL1 Gene

Entrez Gene Summary for TKTL1 Gene

  • The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for TKTL1 Gene

TKTL1 (Transketolase Like 1) is a Protein Coding gene. Diseases associated with TKTL1 include Peroneal Nerve Paralysis. Among its related pathways are Pentose phosphate pathway and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and transketolase activity. An important paralog of this gene is TKTL2.

UniProtKB/Swiss-Prot for TKTL1 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.

Gene Wiki entry for TKTL1 Gene

Additional gene information for TKTL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TKTL1 Gene

Genomics for TKTL1 Gene

GeneHancer (GH) Regulatory Elements for TKTL1 Gene

Promoters and enhancers for TKTL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI154296 Promoter 0.8 EPDnew 550.8 +0.0 2 0.1 BHLHE40 MNT ZBTB33 SETDB1 TEX28 TKTL1
GH0XI154295 Promoter 0.6 EPDnew 550.8 -0.5 -542 0.1 ZBTB33 TEX28 TKTL1 OPN1MW3
GH0XI154305 Promoter 0.5 EPDnew 550.4 +9.4 9404 0.1 TKTL1 TEX28 GC0XP154343 GC0XP154344 PIR36226
GH0XI154723 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.9 +435.8 435754 16 FOXA2 ZFP64 IRF4 YY1 ZNF213 FOS RUNX3 RXRA JUNB ZC3H11A DKC1 SNORA70 HCFC1 SNORA56 F8A1 EMD GAB3 PLXNA3 F8A2 SLC10A3
GH0XI154292 Promoter 0.5 EPDnew 0.8 -3.1 -3071 0.1 TEX28 TKTL1 OPN1MW3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TKTL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TKTL1 gene promoter:

Genomic Locations for TKTL1 Gene

Genomic Locations for TKTL1 Gene
34,693 bases
Plus strand

Genomic View for TKTL1 Gene

Genes around TKTL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TKTL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TKTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TKTL1 Gene

Proteins for TKTL1 Gene

  • Protein details for TKTL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transketolase-like protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K896
    • Q5TYJ8
    • Q5TYJ9
    • Q8TC75

    Protein attributes for TKTL1 Gene

    596 amino acids
    Molecular mass:
    65333 Da
    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;
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    • Homodimer.
    • Strong TKTL1 protein expression has been correlated with a certain type of glucose metabolism (aerobic glycolysis; Warburg effect) and to cells which are affected by chronic complications of diabetic patients.

    Alternative splice isoforms for TKTL1 Gene


neXtProt entry for TKTL1 Gene

Selected DME Specific Peptides for TKTL1 Gene


Post-translational modifications for TKTL1 Gene

No Post-translational modifications

Other Protein References for TKTL1 Gene

Antibody Products

Domains & Families for TKTL1 Gene

Gene Families for TKTL1 Gene

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

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the transketolase family.
  • Belongs to the transketolase family.
genes like me logo Genes that share domains with TKTL1: view

Function for TKTL1 Gene

Molecular function for TKTL1 Gene

GENATLAS Biochemistry:
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 TKTL1 Gene

Phenotypes From GWAS Catalog for TKTL1 Gene

Gene Ontology (GO) - Molecular Function for TKTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004802 transketolase activity IEA,TAS --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TKTL1: view
genes like me logo Genes that share phenotypes with TKTL1: view

Animal Models for TKTL1 Gene

MGI Knock Outs for TKTL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TKTL1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TKTL1 Gene

Localization for TKTL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TKTL1 Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic and to a lesser extent also nuclear (PubMed:16969476).

Subcellular locations from

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 TKTL1 gene
Compartment Confidence
nucleus 4
cytosol 3
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TKTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with TKTL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TKTL1 Gene

Pathways & Interactions for TKTL1 Gene

genes like me logo Genes that share pathways with TKTL1: view

Pathways by source for TKTL1 Gene

Gene Ontology (GO) - Biological Process for TKTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006007 glucose catabolic process TAS 8838793
GO:0006772 thiamine metabolic process TAS 8838793
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with TKTL1: view

No data available for SIGNOR curated interactions for TKTL1 Gene

Drugs & Compounds for TKTL1 Gene

(4) Drugs for TKTL1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Magnesium Approved Nutra 0
Glyceraldehyde-3-Phosphate Experimental Pharma 0

(10) Additional Compounds for TKTL1 Gene - From: 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
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
D-Ribulose 5-phosphate
  • alpha-D-Ribose 5-phosphate
  • D-Ribulose 5-phosphate
  • Erythro-Pentulose 5-phosphate
  • Ribulose 5-phosphate
  • Ribulose phosphate
genes like me logo Genes that share compounds with TKTL1: view

Transcripts for TKTL1 Gene

Unigene Clusters for TKTL1 Gene

Transketolase-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TKTL1

Alternative Splicing Database (ASD) splice patterns (SP) for TKTL1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15
SP1: - -
SP2: - - - -
SP3: - -
SP4: -

Relevant External Links for TKTL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TKTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TKTL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TKTL1 Gene

This gene is overexpressed in Testis (x40.6) and Whole Blood (x6.0).

Protein differential expression in normal tissues from HIPED for TKTL1 Gene

This gene is overexpressed in Ovary (65.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TKTL1 Gene

Protein tissue co-expression partners for TKTL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TKTL1 Gene:


SOURCE GeneReport for Unigene cluster for TKTL1 Gene:


mRNA Expression by UniProt/SwissProt for TKTL1 Gene:

Tissue specificity: Expressed in fetal and adult heart, brain, lung, liver, and kidney, and in adult placenta, skeletal muscle and pancreas. Up-regulated in various epithelial tumors.

Evidence on tissue expression from TISSUES for TKTL1 Gene

  • Nervous system(4.3)
  • Bone(2)
genes like me logo Genes that share expression patterns with TKTL1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TKTL1 Gene

Orthologs for TKTL1 Gene

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

Orthologs for TKTL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TKTL1 33 34
  • 98.52 (n)
(Canis familiaris)
Mammalia TKTL1 33 34
  • 82.83 (n)
(Bos Taurus)
Mammalia TKTL1 33 34
  • 82.33 (n)
(Rattus norvegicus)
Mammalia Tktl1 33
  • 78.24 (n)
(Mus musculus)
Mammalia Tktl1 33 16 34
  • 78.06 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 63 (a)
-- 34
  • 51 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 60 (a)
(Danio rerio)
Actinopterygii tktb 34
  • 60 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8036 35 34
  • 54 (a)
CG5103 34
  • 47 (a)
(Caenorhabditis elegans)
Secernentea tkt-1 34
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TKL1 34
  • 20 (a)
TKL2 34
  • 17 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1932 33
Species where no ortholog for TKTL1 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)
  • 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TKTL1 Gene

Gene Tree for TKTL1 (if available)
Gene Tree for TKTL1 (if available)

Paralogs for TKTL1 Gene

Paralogs for TKTL1 Gene

(4) SIMAP similar genes for TKTL1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with TKTL1: view

Variants for TKTL1 Gene

Sequence variations from dbSNP and Humsavar for TKTL1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000108049 -- 154,318,041(+) G/A intron_variant
rs1000412631 -- 154,330,230(+) C/G 3_prime_UTR_variant
rs1000441279 -- 154,324,021(+) G/A intron_variant
rs1000574206 -- 154,298,060(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000728331 -- 154,306,159(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TKTL1 Gene

Variant ID Type Subtype PubMed ID
nsv7468 OTHER inversion 18451855
nsv7161 CNV deletion 18451855
nsv519042 CNV gain 19592680
nsv1139429 CNV deletion 24896259
esv33784 CNV gain+loss 17666407
esv33199 CNV gain+loss 17666407

Variation tolerance for TKTL1 Gene

Residual Variation Intolerance Score: 3.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TKTL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TKTL1 Gene

Disorders for TKTL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TKTL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
peroneal nerve paralysis
  • peroneal nerve palsy
- elite association - COSMIC cancer census association via MalaCards
Search TKTL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TKTL1

genes like me logo Genes that share disorders with TKTL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TKTL1 Gene

Publications for TKTL1 Gene

  1. Molecular cloning of tissue-specific transcripts of a transketolase-related gene: implications for the evolution of new vertebrate genes. (PMID: 8838793) Coy JF … Poustka A (Genomics 1996) 2 3 4 22 58
  2. Mutations in the transketolase-like gene TKTL1: clinical implications for neurodegenerative diseases, diabetes and cancer. (PMID: 15991799) Coy JF … Schubert P (Clinical laboratory 2005) 3 4 22 58
  3. Lactate-dehydrogenase 5 is overexpressed in non-small cell lung cancer and correlates with the expression of the transketolase-like protein 1. (PMID: 20385008) Kayser G … zur Hausen A (Diagnostic pathology 2010) 3 22 58
  4. Transketolase-like protein 1 (TKTL1) is required for rapid cell growth and full viability of human tumor cells. (PMID: 19065656) Xu X … Löchelt M (International journal of cancer 2009) 3 22 58
  5. Overexpression of transketolase-like gene 1 is associated with cell proliferation in uterine cervix cancer. (PMID: 19331662) Chen H … Zhang S (Journal of experimental & clinical cancer research : CR 2009) 3 22 58

Products for TKTL1 Gene

  • Addgene plasmids for TKTL1

Sources for TKTL1 Gene

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