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TKTL1 Gene

protein-coding   GIFtS: 60
GCID: GC0XP153524

Transketolase-Like 1

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transketolase-Like 11 2     EC 2.2.1.13 8
TKR2 3 5     transketolase-22
TKT22 3 5     Transketolase-Like Protein 12
Transketolase-Related Protein2 3     Transketolase 23
TK 22 3     

External Ids:    HGNC: 118351   Entrez Gene: 82772   Ensembl: ENSG000000073507   OMIM: 3000445   UniProtKB: P518543   

Export aliases for TKTL1 gene to outside databases

Previous GC identifers: GC0XP147587 GC0XP149914 GC0XP151109 GC0XP152001 GC0XP151992 GC0XP153044 GC0XP153178 GC0XP142101


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hypochondroplasia. GO annotations related to this gene include transketolase activity. An important paralog of this gene is TKTL2.

UniProtKB/Swiss-Prot: TKTL1_HUMAN, P51854
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 (By similarity)

Gene Wiki entry for TKTL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TKTL1 gene promoter:
         HFH-3   AhR   Lmo2   MIF-1   Arnt   MZF-1   FOXI1   FOXJ2 (long isoform)   Cart-1   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTKTL1 promoter sequence
   Search Chromatin IP Primers for TKTL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TKTL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

TKTL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TKTL1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153524:  view genomic region     (about GC identifiers)

Start:
153,524,024 bp from pter      End:
153,558,713 bp from pter
Size:
34,690 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TKTL1_HUMAN, P51854 (See protein sequence)
Recommended Name: Transketolase-like protein 1  
Size: 596 amino acids; 65333 Da
Cofactor: Binds 1 magnesium ion per subunit. Can also utilize other divalent metal cations, such as Ca(2+), Mn(2+)
and Co(2+) (By similarity)
Cofactor: Binds 1 thiamine pyrophosphate per subunit (By similarity)
Subunit: Homodimer (By similarity)
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
Secondary accessions: A8K896 Q5TYJ9 Q8TC75
Alternative splicing: 3 isoforms:  P51854-3   P51854-1   P51854-2   (Lacks the N-terminal)

Explore the universe of human proteins at neXtProt for TKTL1: NX_P51854

Explore proteomics data for TKTL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TKTL1 (P51854) (see all 9)
     GGIGEAV  LDNLVAI  GSHCGVS  FTIKPLD 


    See TKTL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001139405.1  NP_001139406.1  NP_036385.3  

    ENSEMBL proteins: 
     ENSP00000358931   ENSP00000399763   ENSP00000401111   ENSP00000416552   ENSP00000358928  
     ENSP00000217905  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR005474 Transketolase_N
     IPR005476 Transketolase_C
     IPR009014 Transketo_C/Pyr-ferredox_oxred
     IPR005475 Transketolase-like_Pyr-bd
     IPR020826 Transketolase_BS

    Graphical View of Domain Structure for InterPro Entry P51854

    ProtoNet protein and cluster: P51854

    2 Blocks protein domains:
    IPB005475 Transketolase
    IPB005476 Transketolase


    UniProtKB/Swiss-Prot: TKTL1_HUMAN, P51854
    Similarity: Belongs to the transketolase family


    TKTL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TKTL1_HUMAN, P51854
    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 (By similarity)
    Catalytic activity: Sedoheptulose 7-phosphate + D-glyceraldehyde 3-phosphate = D-ribose 5-phosphate + D-xylulose
    5-phosphate

         Genatlas biochemistry entry for TKTL1:
    transketolase-related

         Enzyme Number (IUBMB): EC 2.2.1.11 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004802transketolase activity IEA--
    GO:0016624oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor ----
    GO:0046872metal ion binding IEA--
         
    TKTL1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tktl1):
     digestive/alimentary  growth/size/body  immune system 

    TKTL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tktl1tm1Arte for TKTL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TKTL1
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    miRTarBase miRNAs that target TKTL1:
    hsa-mir-335-5p (MIRT017410)

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    hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidTKTL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TKTL1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TKTL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TKTL1_HUMAN, P51854: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic and to a lesser extent also nuclear
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    TKTL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TKTL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Pentose phosphate pathway (KEGG)
    pentose phosphate pathway (non-oxidative branch)0.00
    pentose phosphate pathway0.00
    Pentose phosphate pathway
    2Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    3Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for TKTL1
        pentose phosphate pathway
    pentose phosphate pathway (non-oxidative branch)



    4 Kegg Pathways  (Kegg details for TKTL1):
        Pentose phosphate pathway
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids


    TKTL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TKTL1
    Interactions:

        Search GeneGlobe Interaction Network for TKTL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TKTL1 (ENSP000003589314) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALDOAENSP000003369274STRING: ENSP00000336927
    ALDOBENSP000003639884STRING: ENSP00000363988
    ALDOCENSP000002262534STRING: ENSP00000226253
    DERAENSP000004165834STRING: ENSP00000416583
    FBP1ENSP000003644754STRING: ENSP00000364475
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006007glucose catabolic process TAS8838793
    GO:0006772thiamine metabolic process TAS8838793
    GO:0008152metabolic process ----

    TKTL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TKTL1

    10 HMDB Compounds for TKTL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Beta-D-Fructose 6-phosphatebeta-D-Fructose 6-phosphate (see all 2)----
    CalciumCa (see all 2)7440-70-2--
    D-Erythrose 4-phosphateD-Erythrose 4-phosphate (see all 11)585-18-2--
    D-Ribose 5-phosphateD-Ribose 5-phosphate (see all 11)3615-55-2--
    D-Ribulose 5-phosphateD-Ribulose 5-phosphate (see all 5)4151-19-3--
    D-Sedoheptulose 7-phosphate7-(dihydrogen phosphate) sedoheptulose (see all 9)2646-35-7--
    MagnesiumMagnesium (see all 2)7439-95-4--
    SedoheptuloseD-Altro-2-heptulose (see all 4)3019-74-7--
    Thiamine pyrophosphateTPP (see all 11)154-87-0--
    Xylulose 5-phosphateD-xylulose-5-P (see all 9)4212-65-1--

    1 Novoseek inferred chemical compound relationship for TKTL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 45.4 10 18806930 (2), 18394773 (1), 19065656 (1), 18302154 (1) (see all 5)



    TKTL1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TKTL1 gene (3 alternative transcripts): 
    NM_001145933.1  NM_001145934.1  NM_012253.3  

    Unigene Cluster for TKTL1:

    Transketolase-like 1
    Hs.102866  [show with all ESTs]
    Unigene Representative Sequence: NM_012253
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369915(uc011mzl.2 uc004fkg.3 uc011mzm.2) ENST00000439635
    ENST00000426989 ENST00000426203 ENST00000369912(uc004fkh.3) ENST00000465168
    ENST00000482044 ENST00000463884 ENST00000217905
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    1 qRT-PCR Assays for microRNA that regulate TKTL1:
    hsa-miR-1205
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK292224.1 AK292261.1 AK301724.1 AK302044.1 AK302261.1 BC025382.2 X91817.1 X91818.1 

    8 DOTS entries:

    DT.205641  DT.75106987  DT.121294785  DT.121294717  DT.40289061  DT.121294014  DT.121294396  DT.97812633 

    Selected AceView cDNA sequences (see all 61):

    AW002472 AI671869 X91817 AW193779 BX646229 BX112280 AW341491 NM_012253 
    CD359239 X91818 BI831470 BG721090 AI339424 AL041848 AI638101 AI743615 
    CD359640 BG717394 AI027295 BC025382 AL703992 AL704899 BM698785 AI825638 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TKTL1 (see all 6)    About this scheme

    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:                                                                                                                                                


    ECgene alternative splicing isoforms for TKTL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TKTL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGCCTACTG
    TKTL1 Expression
    About this image


    TKTL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Cells Epiblast
             Epiblast-like cells
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Natural Killer Cells Peripheral Blood
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Neural Tube (Nervous System)
             Floor plate-like cells
    TKTL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TKTL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.102866

    UniProtKB/Swiss-Prot: TKTL1_HUMAN, P51854
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TKTL1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tktl11 , 5 transketolase-like 11, 5 78.06(n)1
    70.03(a)1
      X (37.83 cM)5
    835531  NM_031379.21  NP_113556.21 
     741772595 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    60(a)
    1 → many
    2(88688147-88704999)
    zebrafish
    (Danio rerio)
    Actinopterygii tktb6
    transketolase b
    60(a)
    1 → many
    23(20401928-20414807) ENSDARG00000006019
    fruit fly
    (Drosophila melanogaster)
    Insecta CG80363 transketolase 54(a)   85A5   --
    worm
    (Caenorhabditis elegans)
    Secernentea tkt-16
    Protein TKT-1 (tkt-1) mRNA, complete cds
    51(a)
    1 → many
    IV(10243591-10245752) WBGene00008506
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TKL16
    TKL26
    Transketolase, similar to Tkl2p; catalyzes convers...
    Transketolase, similar to Tkl1p; catalyzes convers...
    20(a)
    17(a)
    many ↔ many
    many ↔ many
    XVI(692796-694838) YPR074C
    II(474392-476437) YBR117C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TKTL1 gene
    TKTL22  TKT2  
    4 SIMAP similar genes for TKTL1 using alignment to 7 protein entries:     TKTL1_HUMAN (see all proteins):
    DKFZp434B129    DKFZp686J13123    TKTL2    TKT

    TKTL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TKTL1 (see all 792)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1389323221,2
    --153390841(+) TACAGA/GTATGT 2 -- us2k10--------
    rs606279851,2
    C--153391079(+) ACCTC-/CGCTTC 2 -- us2k10--------
    rs1117642141,2
    C--153391096(+) TCAAGC/TGATTC 2 -- us2k10--------
    rs1504700171,2
    --153391244(+) GCCAAC/GATGGT 2 -- us2k10--------
    rs1906990141,2
    --153391255(+) GAAAAC/TCCGTC 2 -- us2k10--------
    rs1446184371,2
    C--153391257(+) AAACCC/TGTCTC 2 -- us2k10--------
    rs1832173281,2
    --153391314(+) AATCCC/TAGCTA 2 -- us2k10--------
    rs610863721,2
    C--153391403(+) CCAGCC/TTGGGC 2 -- us2k13Minor allele frequency- T:0.00NA WA 5
    rs1867946631,2
    --153391442(+) AAAAAA/GATGTA 2 -- us2k10--------
    rs1138181281,2
    C--153391535(+) CTCACG/TTAGAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TKTL1 (153524024 - 153558713 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TKTL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7161CNV Loss18451855
    nsv519042CNV Gain19592680
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407
    nsv7468OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TKTL1
    DNA2.0 Custom Variant and Variant Library Synthesis for TKTL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300044    OMIM disorders: --

    Selected diseases for TKTL1 (see all 26):    
    About MalaCards
    wernicke-korsakoff syndrome    hypochondroplasia    cancer progression/metastasis    granulosa cell tumor of the ovary
    nephroblastoma    achondroplasia    adrenocortical carcinoma    pulmonary embolism
    dwarfism    papillary thyroid carcinoma    laryngeal squamous cell carcinoma    laryngitis
    thyroid cancer    nasopharyngitis    adenoid cystic carcinoma    diabetic nephropathy
    adenoiditis    thyroiditis    pneumonia    squamous cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for TKTL1:
    Nasopharyngitis

    TKTL1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for TKTL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 41.7 13 19159596 (3), 17291239 (1), 18615628 (1)
    cancer 38.6 7 19065656 (2), 19290028 (1), 19812737 (1), 19465749 (1) (see all 5)
    tumors 36.2 30 18550470 (3), 19065656 (2), 18686341 (2), 18302154 (2) (see all 7)

    Genetic Association Database (GAD): TKTL1

    Export disorders for TKTL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TKTL1 gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with TKTL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of tissue-specific transcripts of a transketolase- related gene: implications for the evolution of new vertebrate genes. (PubMed id 8838793)1, 2, 3, 9 Coy J.F....Poustka A. (Genomics 1996)
    2. Mutations in the transketolase-like gene TKTL1: clinical implications for neurodegenerative diseases, diabetes and cancer. (PubMed id 15991799)1, 2, 9 Coy J.F.... Schubert P. (Clin. Lab. 2005)
    3. Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. (PubMed id 19419973)1, 4 Sanna S....Uda M. (Hum. Mol. Genet. 2009)
    4. Expression of the mutated transketolase TKTL1, a molecular marker in gastric cancer. (PubMed id 16969476)1, 2 Staiger W.I.... Willeke F. (Oncol. Rep. 2006)
    5. Expression of transketolase TKTL1 predicts colon and urothelial cancer patient survival: Warburg effect reinterpreted. (PubMed id 16465194)1, 2 Langbein S....Coy J.F. (Br. J. Cancer 2006)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Expression of transketolase-like 1 and activation of Akt in grade IV glioblastomas compared with grades II and III astrocytic gliomas. (PubMed id 18550470)1, 9 VAPlker H.U....Monoranu C.M. (Am. J. Clin. Pathol. 2008)
    9. Transketolase-like protein 1 (TKTL1) is required for rapid cell growth and full viability of human tumor cells. (PubMed id 19065656)1, 9 Xu X....LAPchelt M. (Int. J. Cancer 2009)
    10. Expression of transketolase-like 1 (TKTL1) and p-Akt correlates with the progression of cervical neoplasia. (PubMed id 18686341)1, 9 Kohrenhagen N....Kammerer U. (J. Obstet. Gynaecol. Res. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8277 HGNC: 11835 AceView: TKTL1 Ensembl:ENSG00000007350 euGenes: HUgn8277
    ECgene: TKTL1 Kegg: 8277 H-InvDB: TKTL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TKTL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TKTL1 gene:
    Search GeneIP for patents involving TKTL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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