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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
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Genomic context

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See TLK1 in Genome Data Viewer
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

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