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TKT transketolase [ Homo sapiens (human) ]

Gene ID: 7086, updated on 10-Oct-2024

Summary

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
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Try the new Transcript table

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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)

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_001064.4NP_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:8620
    PRK05899; transketolase; Reviewed
  2. NM_001135055.3NP_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:8620
    PRK05899; transketolase; Reviewed
  3. NM_001258028.2NP_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:327482
    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:8628
    PRK05899; transketolase; Reviewed
    cd02012
    Location:20279
    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:500620
    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_011534054.2XP_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:327482
    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:8628
    PRK05899; transketolase; Reviewed
    cd02012
    Location:20279
    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:500620
    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_054347704.1XP_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.