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    TLK1 tousled like kinase 1 [ Homo sapiens (human) ]

    Gene ID: 9874, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TLK1provided by HGNC
    Official Full Name
    tousled like kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:11841
    See related
    Ensembl:ENSG00000198586 MIM:608438; AllianceGenome:HGNC:11841
    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
    PKU-beta
    Summary
    The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Ubiquitous expression in testis (RPKM 13.5), thyroid (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q31.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (170990823..171231293, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (171467942..171708444, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (171847333..172087803, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12094 Neighboring gene golgi reassembly stacking protein 2 Neighboring gene uncharacterized LOC124906091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12096 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:171833995-171834551 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:171840298-171840798 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:171840799-171841299 Neighboring gene NANOG hESC enhancer GRCh37_chr2:171902444-171902951 Neighboring gene NANOG hESC enhancer GRCh37_chr2:171959352-171959858 Neighboring gene uncharacterized LOC124906092 Neighboring gene uncharacterized LOC124906168 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:172016575-172017219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16745 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172041073-172041277 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172061168-172061341 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:172100813-172102012 Neighboring gene uncharacterized LOC107983995 Neighboring gene uncharacterized LOC105373737 Neighboring gene small integral membrane protein 26-like

    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. Knockdown of Tousled‑like kinase 1 inhibits survival of glioblastoma multiforme cells. Ibrahim K, et al. Int J Mol Med, 2020 Aug. PMID 32468002, Free PMC Article
    2. Variation analysis of tousled like kinase 1 gene in patients with sporadic premature ovarian insufficiency. Xu X, et al. Gynecol Endocrinol, 2020 Jan. PMID 31362519
    3. Circular RNA TLK1 Aggravates Neuronal Injury and Neurological Deficits after Ischemic Stroke via miR-335-3p/TIPARP. Wu F, et al. J Neurosci, 2019 Sep 11. PMID 31311824, Free PMC Article
    4. Tousled kinase activator, gallic acid, promotes homologous recombinational repair and suppresses radiation cytotoxicity in salivary gland cells. Timiri Shanmugam PS, et al. Free Radic Biol Med, 2016 Apr. PMID 26855419, Free PMC Article
    5. Adenoviral delivery of Tousled kinase for the protection of salivary glands against ionizing radiation damage. Palaniyandi S, et al. Gene Ther, 2011 Mar. PMID 21048794

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Untousling the Role of Tousled-like Kinase 1 in DNA Damage Repair.
      Title: Untousling the Role of Tousled-like Kinase 1 in DNA Damage Repair.
    2. CircTLK1 alleviates oxygen-glucose deprivation/reperfusion induced apoptosis in HK-2 cells through miR-136-5p/Bcl2 signal axis.
      Title: CircTLK1 alleviates oxygen-glucose deprivation/reperfusion induced apoptosis in HK-2 cells through miR-136-5p/Bcl2 signal axis.
    3. The interaction between ASF1B and TLK1 promotes the malignant progression of low-grade glioma.
      Title: The interaction between ASF1B and TLK1 promotes the malignant progression of low-grade glioma.
    4. CircTLK1 Downregulation Attenuates High Glucose-Induced Human Mesangial Cell Injury by Blocking the AKT/NF-kappaB Pathway Through Sponging miR-126-5p/miR-204-5p.
      Title: CircTLK1 Downregulation Attenuates High Glucose-Induced Human Mesangial Cell Injury by Blocking the AKT/NF-κB Pathway Through Sponging miR-126-5p/miR-204-5p.
    5. TLK1-mediated MK5-S354 phosphorylation drives prostate cancer cell motility and may signify distinct pathologies.
      Title: TLK1-mediated MK5-S354 phosphorylation drives prostate cancer cell motility and may signify distinct pathologies.
    6. CircTLK1 modulates sepsis-induced cardiomyocyte apoptosis via enhancing PARP1/HMGB1 axis-mediated mitochondrial DNA damage by sponging miR-17-5p.
      Title: CircTLK1 modulates sepsis-induced cardiomyocyte apoptosis via enhancing PARP1/HMGB1 axis-mediated mitochondrial DNA damage by sponging miR-17-5p.
    7. Tousled-Like Kinases Suppress Innate Immune Signaling Triggered by Alternative Lengthening of Telomeres.
      Title: Tousled-Like Kinases Suppress Innate Immune Signaling Triggered by Alternative Lengthening of Telomeres.
    8. Knockdown of Tousledlike kinase 1 inhibits survival of glioblastoma multiforme cells.
      Title: Knockdown of Tousled‑like kinase 1 inhibits survival of glioblastoma multiforme cells.
    9. The TLK1/Nek1 axis contributes to mitochondrial integrity and apoptosis prevention via phosphorylation of VDAC1.
      Title: The TLK1/Nek1 axis contributes to mitochondrial integrity and apoptosis prevention via phosphorylation of VDAC1.
    10. Variation analysis of tousled like kinase 1 gene in patients with sporadic premature ovarian insufficiency.
      Title: Variation analysis of tousled like kinase 1 gene in patients with sporadic premature ovarian insufficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    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
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    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

    Clone Names

    • KIAA0137

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of chromatin organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein kinase tousled-like 1
    Names
    SNARE protein kinase SNAK
    serine threonine protein kinase
    NP_001130026.1
    NP_001130027.1
    NP_036422.3
    XP_011510540.1
    XP_016860911.1
    XP_047302486.1
    XP_054200743.1
    XP_054200744.1
    XP_054200745.1
    XP_054200746.1
    XP_054200747.1
    XP_054200748.1

    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.

    mRNA and Protein(s)

    1. NM_001136554.2 → NP_001130026.1  serine/threonine-protein kinase tousled-like 1 isoform 2

      See identical proteins and their annotated locations for NP_001130026.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region, and uses a downstream start codon, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC010092, AK090779, DA144429, DN604386
      Consensus CDS
      CCDS46447.1
      UniProtKB/TrEMBL
      A8K8Z3
      Related
      ENSP00000428113.1, ENST00000521943.5
      Conserved Domains (1) summary
      cd14040
      Location:401 → 699
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1

    2. NM_001136555.2 → NP_001130027.1  serine/threonine-protein kinase tousled-like 1 isoform 3

      See identical proteins and their annotated locations for NP_001130027.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region, and uses a downstream start codon, compared to variant 1, resulting in a shorter protein (isoform 3).
      Source sequence(s)
      AC009953, AC010092, AK301857, DN604386
      Consensus CDS
      CCDS46448.1
      UniProtKB/TrEMBL
      A8K8Z3
      Related
      ENSP00000409222.2, ENST00000434911.6
      Conserved Domains (1) summary
      cd14040
      Location:353 → 651
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1

    3. NM_012290.5 → NP_036422.3  serine/threonine-protein kinase tousled-like 1 isoform 1

      See identical proteins and their annotated locations for NP_036422.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC009953, AC010092, BC032657, DN604386
      Consensus CDS
      CCDS2241.1
      UniProtKB/Swiss-Prot
      B3KR15, B4DX87, Q14150, Q8N591, Q9NYH2, Q9UKI8, Q9Y4F6
      UniProtKB/TrEMBL
      A8K8Z3
      Related
      ENSP00000411099.2, ENST00000431350.7
      Conserved Domains (2) summary
      COG1196
      Location:209 → 454
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd14040
      Location:449 → 747
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      170990823..171231293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005422.3 → XP_016860911.1  serine/threonine-protein kinase tousled-like 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9UKI8
      Conserved Domains (1) summary
      cd14040
      Location:232 → 530
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1

    2. XM_011512238.4 → XP_011510540.1  serine/threonine-protein kinase tousled-like 1 isoform X1

      UniProtKB/TrEMBL
      A8K8Z3
      Conserved Domains (2) summary
      cd14040
      Location:386 → 684
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
      cl25732
      Location:210 → 376
      SMC_N; RecF/RecN/SMC N terminal domain

    3. XM_047446530.1 → XP_047302486.1  serine/threonine-protein kinase tousled-like 1 isoform X3

      UniProtKB/TrEMBL
      B3KRP1
      Related
      ENSP00000387313.2, ENST00000409443.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      171467942..171708444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344769.1 → XP_054200744.1  serine/threonine-protein kinase tousled-like 1 isoform X2

    2. XM_054344768.1 → XP_054200743.1  serine/threonine-protein kinase tousled-like 1 isoform X1

    3. XM_054344772.1 → XP_054200747.1  serine/threonine-protein kinase tousled-like 1 isoform X2

    4. XM_054344770.1 → XP_054200745.1  serine/threonine-protein kinase tousled-like 1 isoform X2

    5. XM_054344771.1 → XP_054200746.1  serine/threonine-protein kinase tousled-like 1 isoform X2

    6. XM_054344773.1 → XP_054200748.1  serine/threonine-protein kinase tousled-like 1 isoform X3

      UniProtKB/TrEMBL
      B3KRP1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKI8.2 GenPept UniProtKB/Swiss-Prot:Q9UKI8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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