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TKTL1 transketolase like 1 [ Homo sapiens (human) ]

Gene ID: 8277, updated on 5-Mar-2024

Summary

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Official Symbol
TKTL1provided by HGNC
Official Full Name
transketolase like 1provided by HGNC
Primary source
HGNC:HGNC:11835
See related
Ensembl:ENSG00000007350 MIM:300044; AllianceGenome:HGNC:11835
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
TKR; TKT2
Summary
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]
Expression
Restricted expression toward testis (RPKM 88.4) See more
Orthologs
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Genomic context

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Location:
Xq28
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154295795..154330350)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152532310..152566865)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153524148..153558700)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene opsin 1, medium wave sensitive 3 Neighboring gene testis expressed 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153523339-153523840 Neighboring gene uncharacterized LOC105373386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30055 Neighboring gene Xq28 proximal FLNA-EMD recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30057 Neighboring gene filamin A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153596747-153597274 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153597275-153597800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21087 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153599383-153599908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153599914-153600555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21095

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. Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals. Pinson A, et al. Science, 2022 Sep 9. PMID 36074851
  2. High TKTL1 expression as a sign of poor prognosis in colorectal cancer with synchronous rather than metachronous liver metastases. Peltonen R, et al. Cancer Biol Ther, 2020 Sep 1. PMID 32795237, Free PMC Article
  3. Biomarkers Apo10 and TKTL1: Epitope-detection in monocytes (EDIM) as a new diagnostic approach for cholangiocellular, pancreatic and colorectal carcinoma. Saman S, et al. Cancer Biomark, 2020. PMID 31771043, Free PMC Article
  4. Transketolase like 1 (TKTL1) expression alterations in prostate cancer tumorigenesis. da Costa IA, et al. Urol Oncol, 2018 Oct. PMID 30119993
  5. Gene Suppression of Transketolase-Like Protein 1 (TKTL1) Sensitizes Glioma Cells to Hypoxia and Ionizing Radiation. Heller S, et al. Int J Mol Sci, 2018 Jul 25. PMID 30044385, Free PMC Article

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Apo10 and TKTL1 in blood macrophages as biomarkers for differentiating lung cancer from benign lung lesions: a comparative study with conventional biomarkers.
    Title: Apo10 and TKTL1 in blood macrophages as biomarkers for differentiating lung cancer from benign lung lesions: a comparative study with conventional biomarkers.
  2. Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals.
    Title: Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals.
  3. TKTL1 Knockdown Impairs Hypoxia-Induced Glucose-6-phosphate Dehydrogenase and Glyceraldehyde-3-phosphate Dehydrogenase Overexpression.
    Title: TKTL1 Knockdown Impairs Hypoxia-Induced Glucose-6-phosphate Dehydrogenase and Glyceraldehyde-3-phosphate Dehydrogenase Overexpression.
  4. High TKTL1 expression as a sign of poor prognosis in colorectal cancer with synchronous rather than metachronous liver metastases.
    Title: High TKTL1 expression as a sign of poor prognosis in colorectal cancer with synchronous rather than metachronous liver metastases.
  5. CircDUSP16 Contributes to Cell Development in Esophageal Squamous Cell Carcinoma by Regulating miR-497-5p/TKTL1 Axis.
    Title: CircDUSP16 Contributes to Cell Development in Esophageal Squamous Cell Carcinoma by Regulating miR-497-5p/TKTL1 Axis.
  6. Use of AKR1C1 and TKTL1 in the Diagnosis of Low-grade Squamous Intraepithelial Lesions from Mexican Women.
    Title: Use of AKR1C1 and TKTL1 in the Diagnosis of Low-grade Squamous Intraepithelial Lesions from Mexican Women.
  7. Transketolase-Like Protein 1 and Glucose Transporter 1 in Gastric Cancer.
    Title: Transketolase-Like Protein 1 and Glucose Transporter 1 in Gastric Cancer.
  8. For the first time we analyzed Apo10 and TKLT1 in patients with cholangiocellular (CCC), pancreatic (PC), and colorectal carcinoma (CRC).
    Title: Biomarkers Apo10 and TKTL1: Epitope-detection in monocytes (EDIM) as a new diagnostic approach for cholangiocellular, pancreatic and colorectal carcinoma.
  9. Homology modelling of TKTL1 and TKTL2 using transketolase (TKT) as template, revealed that both could assume a folded structure like TKT. TKTL1/2 presented a cleft of suitable dimensions between the homodimer surfaces that could accommodate the co-factor-substrate. An appropriate cavity and a hydrophobic nodule were also present in TKTL1/2 and implicated in aminopyrimidine and thiazole ring binding in TKT, respectively.
    Title: The human transketolase-like proteins TKTL1 and TKTL2 are bona fide transketolases.
  10. The results obtained in this study suggest that pentose phosphate pathway and its key enzyme TKTL1 is altered throughout the prostate cancer tumorigenesis
    Title: Transketolase like 1 (TKTL1) expression alterations in prostate cancer tumorigenesis.
Submit: New GeneRIF Correction See all GeneRIFs (52)

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

EBI GWAS Catalog

Description
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
EBI GWAS Catalog
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
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
  
Process Evidence Code Pubs
involved_in glucose catabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in thiamine metabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
transketolase-like protein 1
Names
TK 2
transketolase-2
transketolase-related protein
NP_001139405.1
NP_001139406.1
NP_036385.3

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_028264.2 RefSeqGene

    Range
    5002..39557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145933.2 → NP_001139405.1  transketolase-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_001139405.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    AK302044, BG718121, DB524246
    UniProtKB/TrEMBL
    A8K859, B7Z7I0
    Conserved Domains (4) summary
    cd07033
    Location:287 → 442
    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:17 → 588
    PRK05899; transketolase; Reviewed
    pfam02780
    Location:458 → 580
    Transketolase_C; Transketolase, C-terminal domain
    cl01629
    Location:30 → 239
    TPP_enzymes; Thiamine pyrophosphate (TPP) enzyme family, TPP-binding module; found in many key metabolic enzymes which use TPP (also known as thiamine diphosphate) as a cofactor. These enzymes include, among others, the E1 components of the pyruvate, the acetoin and ...

  2. NM_001145934.2 → NP_001139406.1  transketolase-like protein 1 isoform c

    See identical proteins and their annotated locations for NP_001139406.1

    Status: REVIEWED

    Source sequence(s)
    AC245140
    Consensus CDS
    CCDS55541.1
    UniProtKB/TrEMBL
    A8K859
    Related
    ENSP00000358928.2, ENST00000369912.2
    Conserved Domains (4) summary
    cd07033
    Location:237 → 392
    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:1 → 538
    PRK05899; transketolase; Reviewed
    pfam02780
    Location:408 → 530
    Transketolase_C; Transketolase, C-terminal domain
    cl01629
    Location:1 → 189
    TPP_enzymes; Thiamine pyrophosphate (TPP) enzyme family, TPP-binding module; found in many key metabolic enzymes which use TPP (also known as thiamine diphosphate) as a cofactor. These enzymes include, among others, the E1 components of the pyruvate, the acetoin and ...

  3. NM_012253.4 → NP_036385.3  transketolase-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_036385.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK292261, BG718121, DB524246
    Consensus CDS
    CCDS35448.1
    UniProtKB/Swiss-Prot
    A8K896, P51854, Q5TYJ8, Q5TYJ9, Q8TC75
    UniProtKB/TrEMBL
    A8K859
    Related
    ENSP00000358931.3, ENST00000369915.8
    Conserved Domains (4) summary
    cd07033
    Location:293 → 448
    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:17 → 594
    PRK05899; transketolase; Reviewed
    pfam02780
    Location:464 → 586
    Transketolase_C; Transketolase, C-terminal domain
    cl01629
    Location:30 → 245
    TPP_enzymes; Thiamine pyrophosphate (TPP) enzyme family, TPP-binding module; found in many key metabolic enzymes which use TPP (also known as thiamine diphosphate) as a cofactor. These enzymes include, among others, the E1 components of the pyruvate, the acetoin and ...

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    154295795..154330350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152532310..152566865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51854.2 GenPept UniProtKB/Swiss-Prot:P51854

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