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TKT transketolase [ Homo sapiens (human) ]

Gene ID: 7086, updated on 7-Apr-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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Location:
3p21.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (53224712..53256022, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (53257622..53288998, complement)
105.20220307 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
  • 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 promotes colorectal cancer metastasis through regulating AKT phosphorylation. Li M, et al. Cell Death Dis, 2022 Feb 2. PMID 35110545, Free PMC Article
  2. QM/MM Study of Human Transketolase: Thiamine Diphosphate Activation Mechanism and Complete Catalytic Cycle. Nauton L, et al. J Chem Inf Model, 2021 Jul 26. PMID 34161071
  3. Erythrocyte transketolase deficiency in patients suffering from Crohn's disease. Mańkowska-Wierzbicka D, et al. Eur Rev Med Pharmacol Sci, 2019 Oct. PMID 31646581
  4. Transketolase Activity in the Formation of the Azinomycin Azabicycle Moiety. Washburn LA, et al. Biochemistry, 2019 Dec 31. PMID 31424204
  5. 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

See all (179) 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
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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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NEW Try the new Transcript table

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_2023_10

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

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