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    TKT transketolase [ Homo sapiens (human) ]

    Gene ID: 7086, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TKTprovided by HGNC
    Official Full Name
    transketolaseprovided by HGNC
    Primary source
    HGNC:HGNC:11834
    See related
    Ensembl:ENSG00000163931 MIM:606781; AllianceGenome:HGNC:11834
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TK; TKT1; SDDHD; HEL107; HEL-S-48
    Summary
    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]
    Expression
    Broad expression in bone marrow (RPKM 210.7), fat (RPKM 83.0) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TKT in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (53224712..53256022, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (53257622..53288998, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53258728..53290038, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53106949-53107566 Neighboring gene Sharpr-MPRA regulatory region 3047 Neighboring gene RFT1 homolog Neighboring gene NANOG hESC enhancer GRCh37_chr3:53136831-53137332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19953 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:53148350-53149549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53182771-53183578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53190496-53190996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53201730-53202410 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53202411-53203091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19961 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53208863-53209718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19965 Neighboring gene protein kinase C delta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19967 Neighboring gene Sharpr-MPRA regulatory region 8375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53236717-53237216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14463 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:53261945-53263144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53270389-53271197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53274891-53275886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14464 Neighboring gene Sharpr-MPRA regulatory region 10976 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:53303617-53304816 Neighboring gene uncharacterized LOC107986087 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53305434-53306319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53307415-53307967 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:53328175-53328676 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:53328677-53329176 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_70700 Neighboring gene decapping mRNA 1A Neighboring gene uncharacterized LOC124909380

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Transketolase is upregulated in metastatic peritoneal implants and promotes ovarian cancer cell proliferation. Ricciardelli C, et al. Clin Exp Metastasis, 2015 Jun. PMID 25895698
    2. Transketolase Activity in the Formation of the Azinomycin Azabicycle Moiety. Washburn LA, et al. Biochemistry, 2019 Dec 31. PMID 31424204
    3. Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formation. Riyapa D, et al. PLoS One, 2019. PMID 31415630, Free PMC Article
    4. Erythrocyte transketolase deficiency in patients suffering from Crohn's disease. Mańkowska-Wierzbicka D, et al. Eur Rev Med Pharmacol Sci, 2019 Oct. PMID 31646581
    5. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. Boyle L, et al. Am J Hum Genet, 2016 Jun 2. PMID 27259054, Free PMC Article

    See all (204) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TKT-PARP1 axis induces radioresistance by promoting DNA double-strand break repair in hepatocellular carcinoma.
      Title: TKT-PARP1 axis induces radioresistance by promoting DNA double-strand break repair in hepatocellular carcinoma.
    2. Transketolase promotes colorectal cancer metastasis through regulating AKT phosphorylation.
      Title: Transketolase promotes colorectal cancer metastasis through regulating AKT phosphorylation.
    3. QM/MM Study of Human Transketolase: Thiamine Diphosphate Activation Mechanism and Complete Catalytic Cycle.
      Title: QM/MM Study of Human Transketolase: Thiamine Diphosphate Activation Mechanism and Complete Catalytic Cycle.
    4. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
      Title: Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
    5. The nuclear translocation of transketolase inhibits the farnesoid receptor expression by promoting the binding of HDAC3 to FXR promoter in hepatocellular carcinoma cell lines.
      Title: The nuclear translocation of transketolase inhibits the farnesoid receptor expression by promoting the binding of HDAC3 to FXR promoter in hepatocellular carcinoma cell lines.
    6. Genetic variants in TKT and DERA in the nicotinamide adenine dinucleotide phosphate pathway predict melanoma survival.
      Title: Genetic variants in TKT and DERA in the nicotinamide adenine dinucleotide phosphate pathway predict melanoma survival.
    7. Erythrocyte transketolase deficiency in patients suffering from Crohn's disease.
      Title: Erythrocyte transketolase deficiency in patients suffering from Crohn's disease.
    8. Transketolase Activity in the Formation of the Azinomycin Azabicycle Moiety
      Title: Transketolase Activity in the Formation of the Azinomycin Azabicycle Moiety.
    9. The regulation of TKT by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation by preventing generation of excessive NETs in inflammatory diseases.
      Title: Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formation.
    10. results suggest that SH2D5 is an HBV-induced protein capable of binding to TKT, leading to induction of HCC cell proliferation.
      Title: Hepatitis B virus X protein-induced SH2 domain-containing 5 (SH2D5) expression promotes hepatoma cell growth via an SH2D5-transketolase interaction.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Transketolase deficiency
    MedGen: C5700245 OMIM: 617044 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of transketolase (TKT) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human transketolase (TKT) at amino acid residues178-179 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34765

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables thiamine pyrophosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transketolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transketolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glyceraldehyde-3-phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pentose-phosphate shunt IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pentose-phosphate shunt, non-oxidative branch IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pentose-phosphate shunt, non-oxidative branch NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in xylulose 5-phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in peroxisome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in vesicle HDA PubMed 

    General protein information

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    Preferred Names
    transketolase
    Names
    epididymis luminal protein 107
    epididymis secretory protein Li 48
    NP_001055.1
    NP_001128527.1
    NP_001244957.1
    XP_011532356.1
    XP_054203679.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027815.1 RefSeqGene

      Range
      5093..36403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001064.4 → NP_001055.1  transketolase isoform 1

      See identical proteins and their annotated locations for NP_001055.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 3' UTR, compared to variant 2. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC097015, BC009970, BC024026, CA421169, DB503248, L12711
      Consensus CDS
      CCDS2871.1
      UniProtKB/Swiss-Prot
      A8K089, B4DE31, E7EPA7, P29401, Q8TBA3, Q96HH3
      UniProtKB/TrEMBL
      A0A024R2Z9, Q53EM5, V9HWD9
      Related
      ENSP00000417773.1, ENST00000462138.6
      Conserved Domains (1) summary
      PRK05899
      Location:8 → 620
      PRK05899; transketolase; Reviewed

    2. NM_001135055.3 → NP_001128527.1  transketolase isoform 1

      See identical proteins and their annotated locations for NP_001128527.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC097015, BE504944, BX647248, DB503248
      Consensus CDS
      CCDS2871.1
      UniProtKB/Swiss-Prot
      A8K089, B4DE31, E7EPA7, P29401, Q8TBA3, Q96HH3
      UniProtKB/TrEMBL
      A0A024R2Z9, Q53EM5, V9HWD9
      Related
      ENSP00000405455.2, ENST00000423525.6
      Conserved Domains (1) summary
      PRK05899
      Location:8 → 620
      PRK05899; transketolase; Reviewed

    3. NM_001258028.2 → NP_001244957.1  transketolase isoform 2

      See identical proteins and their annotated locations for NP_001244957.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
      Source sequence(s)
      AC097015, AK293438, BC008615, CA421169
      Consensus CDS
      CCDS58834.1
      UniProtKB/TrEMBL
      Q53EM5
      Related
      ENSP00000391481.1, ENST00000423516.5
      Conserved Domains (4) summary
      cd07033
      Location:327 → 482
      TPP_PYR_DXS_TK_like; Pyrimidine (PYR) binding domain of 1-deoxy-D-xylulose-5-phosphate synthase (DXS), transketolase (TK), and related proteins
      PRK05899
      Location:8 → 628
      PRK05899; transketolase; Reviewed
      cd02012
      Location:20 → 279
      TPP_TK; Thiamine pyrophosphate (TPP) family, Transketolase (TK) subfamily, TPP-binding module; TK catalyzes the transfer of a two-carbon unit from ketose phosphates to aldose phosphates. In heterotrophic organisms, TK provides a link between glycolysis and the ...
      pfam02780
      Location:500 → 620
      Transketolase_C; Transketolase, C-terminal domain

    RNA

    1. NR_047580.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC097015, AK301231, BC008615, CA421169

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      53224712..53256022 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534054.2 → XP_011532356.1  transketolase isoform X1

      See identical proteins and their annotated locations for XP_011532356.1

      UniProtKB/TrEMBL
      Q53EM5
      Conserved Domains (4) summary
      cd07033
      Location:327 → 482
      TPP_PYR_DXS_TK_like; Pyrimidine (PYR) binding domain of 1-deoxy-D-xylulose-5-phosphate synthase (DXS), transketolase (TK), and related proteins
      PRK05899
      Location:8 → 628
      PRK05899; transketolase; Reviewed
      cd02012
      Location:20 → 279
      TPP_TK; Thiamine pyrophosphate (TPP) family, Transketolase (TK) subfamily, TPP-binding module; TK catalyzes the transfer of a two-carbon unit from ketose phosphates to aldose phosphates. In heterotrophic organisms, TK provides a link between glycolysis and the ...
      pfam02780
      Location:500 → 620
      Transketolase_C; Transketolase, C-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      53257622..53288998 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347704.1 → XP_054203679.1  transketolase isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001135056.1: Suppressed sequence

      Description
      NM_001135056.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which aligns with non-consensus splice sites.

    2. NR_047579.1: Suppressed sequence

      Description
      NR_047579.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P29401.3 GenPept UniProtKB/Swiss-Prot:P29401

    Gene LinkOut

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