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Aliases for TKTL1 Gene

Aliases for TKTL1 Gene

  • Transketolase-Like 1 2 3
  • TKT2 3 4 6
  • TKR 3 4 6
  • Transketolase-Related Protein 3 4
  • EC 2.2.1.1 4 64
  • TK 2 3 4
  • Transketolase-Like Protein 1 3
  • Transketolase-2 3
  • Transketolase 2 4

External Ids for TKTL1 Gene

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 wernicke-korsakoff syndrome and nasopharyngitis. Among its related pathways are Carbon metabolism and Metabolism. GO annotations related to this gene include transketolase activity. An important paralog of this gene is TKT.

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

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

Genomics for TKTL1 Gene

Genomic Location for TKTL1 Gene

Start:
154,295,671 bp from pter
End:
154,330,363 bp from pter
Size:
34,693 bases
Orientation:
Plus strand

Genomic View for TKTL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TKTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TKTL1 Gene

Regulatory Elements for TKTL1 Gene

Proteins for TKTL1 Gene

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

    Protein Symbol:
    P51854-TKTL1_HUMAN
    Recommended name:
    Transketolase-like protein 1
    Protein Accession:
    P51854
    Secondary Accessions:
    • A8K896
    • Q5TYJ8
    • Q5TYJ9
    • Q8TC75

    Protein attributes for TKTL1 Gene

    Size:
    596 amino acids
    Molecular mass:
    65333 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; Note=Binds 1 Mg(2+) ion per subunit. Can also utilize other divalent metal cations, such as Ca(2+), Mn(2+) and Co(2+).;
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937; Note=Binds 1 thiamine pyrophosphate per subunit.;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for TKTL1 Gene

Proteomics data for TKTL1 Gene at MOPED

Selected DME Specific Peptides for TKTL1 Gene

Post-translational modifications for TKTL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TKTL1 Gene

Domains for TKTL1 Gene

UniProtKB/Swiss-Prot:

TKTL1_HUMAN
Family:
  • Belongs to the transketolase family.:
    • P51854
genes like me logo Genes that share domains with TKTL1: view

No data available for Gene Families for TKTL1 Gene

Function for TKTL1 Gene

Molecular function for TKTL1 Gene

GENATLAS Biochemistry: transketolase-related
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

Gene Ontology (GO) - Molecular Function for TKTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004802 transketolase activity IEA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor --
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:

miRNA for TKTL1 Gene

miRTarBase miRNAs that target TKTL1

No data available for Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TKTL1 Gene COMPARTMENTS Subcellular localization image for TKTL1 gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 1
peroxisome 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

Pathways for TKTL1 Gene

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

Pathways by source for TKTL1 Gene

Interacting Proteins 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 --
genes like me logo Genes that share ontologies with TKTL1: view

Compounds for TKTL1 Gene

(10) HMDB Compounds for TKTL1 Gene

Compound Synonyms Cas Number PubMed IDs
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
Not Available
Calcium
  • Ca
7440-70-2
D-Erythrose 4-phosphate
  • D-Erythrose 4-phosphate
585-18-2
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
3615-55-2
D-Ribulose 5-phosphate
  • D-Ribulose 5-phosphate
4151-19-3

(1) Novoseek inferred chemical compound relationships for TKTL1 Gene

Compound -log(P) Hits PubMed IDs
glucose 45.4 6
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:

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: -
SP5:
SP6:

Relevant External Links for TKTL1 Gene

GeneLoc Exon Structure for
TKTL1
ECgene alternative splicing isoforms for
TKTL1

Expression for TKTL1 Gene

mRNA expression in normal human tissues 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 (40.6) and Whole Blood (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TKTL1 Gene

SOURCE GeneReport for Unigene cluster for TKTL1 Gene Hs.102866

mRNA Expression by UniProt/SwissProt for TKTL1 Gene

P51854-TKTL1_HUMAN
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.
genes like me logo Genes that share expressions with TKTL1: view

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
chimpanzee
(Pan troglodytes)
Mammalia TKTL1 36
  • 98.52 (n)
  • 96.42 (a)
TKTL1 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TKTL1 36
  • 82.33 (n)
  • 77.01 (a)
TKTL1 37
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TKTL1 36
  • 82.83 (n)
  • 79.87 (a)
TKTL1 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tktl1 36
  • 78.06 (n)
  • 70.03 (a)
Tktl1 16
Tktl1 37
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 51 (a)
ManyToMany
-- 37
  • 63 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Tktl1 36
  • 78.24 (n)
  • 69.8 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 60 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii tktb 37
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5103 37
  • 47 (a)
ManyToMany
CG8036 37
  • 52 (a)
ManyToMany
CG8036 38
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea tkt-1 37
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TKL1 37
  • 20 (a)
ManyToMany
TKL2 37
  • 17 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1932 36
Species with no ortholog for TKTL1:
  • 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

ENSEMBL:
Gene Tree for TKTL1 (if available)
TreeFam:
Gene Tree for TKTL1 (if available)

Paralogs for TKTL1 Gene

Paralogs for TKTL1 Gene

Selected 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 Sequence Context AA Info Type MAF
rs766418 -- 154,326,434(-) TTCAG(G/T)ATGAT intron-variant
rs766419 -- 154,326,315(-) CTCCA(C/T)AGACG intron-variant
rs766420 -- 154,326,058(-) CCTTA(C/G)ATCTG intron-variant
rs2239466 -- 154,326,537(+) CAAGT(A/G)CTCAG intron-variant
rs2239467 -- 154,326,948(+) CTATC(A/G)GCAAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv7161 CNV Loss 18451855
nsv7468 OTHER Inversion 18451855

Relevant External Links for TKTL1 Gene

HapMap Linkage Disequilibrium report
TKTL1

Disorders for TKTL1 Gene

(1) University of Copenhagen DISEASES for TKTL1 Gene

(3) Novoseek inferred disease relationships for TKTL1 Gene

Disease -log(P) Hits PubMed IDs
metastasis 41.7 5
cancer 38.6 6
tumors 36.2 12

Relevant External Links for TKTL1

Genetic Association Database (GAD)
TKTL1
genes like me logo Genes that share disorders with TKTL1: view

No data available for UniProtKB/Swiss-Prot 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 J.F. … Poustka A. (Genomics 1996) 2 3 4 23
  2. Mutations in the transketolase-like gene TKTL1: clinical implications for neurodegenerative diseases, diabetes and cancer. (PMID: 15991799) Coy J.F. … Schubert P. (Clin. Lab. 2005) 3 4 23
  3. Metastasis is promoted by a bioenergetic switch: new targets for progressive renal cell cancer. (PMID: 18302154) Langbein S. … Coy J.F. (Int. J. Cancer 2008) 3 23
  4. Glucose metabolism and angiogenesis in granulosa cell tumors of the ovary: activation of Akt, expression of M2PK, TKTL1 and VEGF. (PMID: 18394773) Schmidt M. … Voelker H.U. (Eur. J. Obstet. Gynecol. Reprod. Biol. 2008) 3 23
  5. Expression of transketolase-like 1 and activation of Akt in grade IV glioblastomas compared with grades II and III astrocytic gliomas. (PMID: 18550470) VAPlker H.U. … Monoranu C.M. (Am. J. Clin. Pathol. 2008) 3 23

Products for TKTL1 Gene

Sources for TKTL1 Gene

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