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    TKTL1 transketolase like 1 [ Homo sapiens (human) ]

    Gene ID: 8277, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See TKTL1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154295795..154330350)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152532310..152566865)
    RS_2024_09 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. Glucose metabolism of malignant cells is not regulated by transketolase-like (TKTL)-1. Mayer A, et al. Int J Oncol, 2010 Aug. PMID 20596653
    2. TKTL1 expression and its downregulation is implicated in cell proliferation inhibition and cell cycle arrest in esophageal squamous cell carcinoma. Shi Z, et al. Tumour Biol, 2015 Nov. PMID 26032094
    3. Expression patterns and prognostic role of transketolase-like 1 in muscle-invasive bladder cancer. Semilia M, et al. World J Urol, 2015 Oct. PMID 25572961
    4. Expression of transketolase-like gene 1 (TKTL1) depends on disease phase in patients with chronic myeloid leukaemia (CML). Philipp M, et al. J Cancer Res Clin Oncol, 2014 Mar. PMID 24390277
    5. Hypoxia induces the expression of transketolase-like 1 in human colorectal cancer. Bentz S, et al. Digestion, 2013. PMID 24193262

    See all (69) 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)

    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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    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_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_2024_08

    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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