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Aliases for TLK1 Gene

Aliases for TLK1 Gene

  • Tousled Like Kinase 1 2 3 5
  • Tousled-Like Kinase 1 2 4
  • EC 2.7.11.1 4 61
  • PKU-Beta 3 4
  • Serine/Threonine-Protein Kinase Tousled-Like 1 3
  • Serine Threonine Protein Kinase 3
  • SNARE Protein Kinase SNAK 3
  • EC 2.7.11 61
  • KIAA0137 4

External Ids for TLK1 Gene

Previous GeneCards Identifiers for TLK1 Gene

  • GC02M169900
  • GC02M170390
  • GC02M171812
  • GC02M172051
  • GC02M171674
  • GC02M171556
  • GC02M163735

Summaries for TLK1 Gene

Entrez Gene Summary for TLK1 Gene

  • 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]

GeneCards Summary for TLK1 Gene

TLK1 (Tousled Like Kinase 1) is a Protein Coding gene. Among its related pathways are ATM Pathway and Chks in Checkpoint Regulation. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TLK2.

UniProtKB/Swiss-Prot for TLK1 Gene

  • Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at Ser-10.

Gene Wiki entry for TLK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLK1 Gene

Genomics for TLK1 Gene

Regulatory Elements for TLK1 Gene

Enhancers for TLK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F171260 1.2 FANTOM5 Ensembl ENCODE 12.2 -30.1 -30087 2.8 ELF3 RAD21 DNMT3B RARA CBX5 SCRT2 FOS THAP11 CEBPB MXD4 TLK1 GC02M171274
GH02F171344 0.8 FANTOM5 12.2 -113.5 -113510 0.1 GORASP2 TLK1 GC02M171300 GC02M171375
GH02F171271 1.1 Ensembl ENCODE 12.1 -40.8 -40800 1.2 TBP PKNOX1 RAD21 RFX5 SCRT2 RCOR1 FOS CEBPB KAT8 ZNF217 TLK1 METTL8 METAP1D GC02M171274
GH02F171210 1.2 Ensembl ENCODE 12 +20.0 20015 1.9 HDAC1 PKNOX1 ZNF766 ZNF366 SMARCA5 CEBPB REST TBX21 ZNF589 PBX2 TLK1 GC02P171227 GC02P171119
GH02F171185 1.1 Ensembl ENCODE 11.3 +45.2 45171 1.1 GATA2 KDM1A FOXA1 TLK1 GORASP2 GC02P171227 GC02P171119
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TLK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TLK1 Gene

Chromosome:
2
Start:
170,990,823 bp from pter
End:
171,231,314 bp from pter
Size:
240,492 bases
Orientation:
Minus strand

Genomic View for TLK1 Gene

Genes around TLK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLK1 Gene

Proteins for TLK1 Gene

  • Protein details for TLK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKI8-TLK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase tousled-like 1
    Protein Accession:
    Q9UKI8
    Secondary Accessions:
    • B3KR15
    • B4DX87
    • Q14150
    • Q8N591
    • Q9NYH2
    • Q9Y4F6

    Protein attributes for TLK1 Gene

    Size:
    766 amino acids
    Molecular mass:
    86700 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterodimerizes with TLK2. Interacts with ASF1A and ASF1B.
    SequenceCaution:
    • Sequence=AAF03094.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA09486.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TLK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLK1 Gene

Post-translational modifications for TLK1 Gene

No Post-translational modifications

Domains & Families for TLK1 Gene

Gene Families for TLK1 Gene

Protein Domains for TLK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKI8

UniProtKB/Swiss-Prot:

TLK1_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with TLK1: view

Function for TLK1 Gene

Molecular function for TLK1 Gene

GENATLAS Biochemistry:
tousled-like kinase 1,nuclear serine/threonine kinase PKU beta,broadly expressed,autophosphorylating and dimerizing cell-cycle regulated displaying maximal activities during S phase,Arabidopsis thaliana homolog
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Cell-cycle regulated, maximal activity in S-phase. Inactivated by phosphorylation at Ser-743, potentially by CHEK1.
UniProtKB/Swiss-Prot Function:
Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at Ser-10.

Enzyme Numbers (IUBMB) for TLK1 Gene

Gene Ontology (GO) - Molecular Function for TLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS 9427565
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IDA 12660173
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with TLK1: view
genes like me logo Genes that share phenotypes with TLK1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TLK1

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TLK1 Gene

Localization for TLK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLK1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TLK1 Gene COMPARTMENTS Subcellular localization image for TLK1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for TLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS 9427565
genes like me logo Genes that share ontologies with TLK1: view

Pathways & Interactions for TLK1 Gene

genes like me logo Genes that share pathways with TLK1: view

Pathways by source for TLK1 Gene

1 Cell Signaling Technology pathway for TLK1 Gene
2 Qiagen pathways for TLK1 Gene

SIGNOR curated interactions for TLK1 Gene

Activates:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for TLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001672 regulation of chromatin assembly or disassembly IDA 12660173
GO:0006468 protein phosphorylation IDA 12660173
GO:0006886 intracellular protein transport IDA 10588641
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with TLK1: view

Drugs & Compounds for TLK1 Gene

(1) Drugs for TLK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0
genes like me logo Genes that share compounds with TLK1: view

Transcripts for TLK1 Gene

Unigene Clusters for TLK1 Gene

Tousled-like kinase 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TLK1 Gene

No ASD Table

Relevant External Links for TLK1 Gene

GeneLoc Exon Structure for
TLK1
ECgene alternative splicing isoforms for
TLK1

Expression for TLK1 Gene

mRNA expression in normal human tissues for TLK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TLK1 Gene

This gene is overexpressed in Heart (15.9) and Peripheral blood mononuclear cells (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TLK1 Gene



Protein tissue co-expression partners for TLK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TLK1 Gene:

TLK1

SOURCE GeneReport for Unigene cluster for TLK1 Gene:

Hs.744917

mRNA Expression by UniProt/SwissProt for TLK1 Gene:

Q9UKI8-TLK1_HUMAN
Tissue specificity: Widely expressed. Present in fetal placenta, liver, kidney and pancreas but not heart or skeletal muscle. Also found in adult cell lines. Isoform 3 is ubiquitously expressed in all tissues examined.
genes like me logo Genes that share expression patterns with TLK1: view

Primer Products

No data available for mRNA differential expression in normal tissues for TLK1 Gene

Orthologs for TLK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TLK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLK1 34 35
  • 99.87 (n)
oppossum
(Monodelphis domestica)
Mammalia TLK1 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TLK1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TLK1 34 35
  • 96.08 (n)
cow
(Bos Taurus)
Mammalia TLK1 34 35
  • 95.47 (n)
mouse
(Mus musculus)
Mammalia Tlk1 34 16 35
  • 91.91 (n)
chicken
(Gallus gallus)
Aves TLK1 34 35
  • 87.44 (n)
lizard
(Anolis carolinensis)
Reptilia TLK1 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tlk1 34
  • 82.12 (n)
Str.902 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.22395 34
zebrafish
(Danio rerio)
Actinopterygii tlk1b 35
  • 85 (a)
OneToMany
tlk1a 34 35
  • 74.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH07910 36
  • 72 (a)
tlk 35
  • 27 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000043 34
  • 56.27 (n)
worm
(Caenorhabditis elegans)
Secernentea tlk-1 35
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPS1 35
  • 15 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.12931 34
corn
(Zea mays)
Liliopsida Zm.13254 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.566 35
  • 64 (a)
OneToMany
Species where no ortholog for TLK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TLK1 Gene

ENSEMBL:
Gene Tree for TLK1 (if available)
TreeFam:
Gene Tree for TLK1 (if available)

Paralogs for TLK1 Gene

Paralogs for TLK1 Gene

(4) SIMAP similar genes for TLK1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for TLK1 Gene

genes like me logo Genes that share paralogs with TLK1: view

Variants for TLK1 Gene

Sequence variations from dbSNP and Humsavar for TLK1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10167878 -- 171,191,977(+) ACAGA(A/G)TCCCT intron-variant
rs10168547 -- 171,149,135(+) TCTAA(A/G)ATTTT intron-variant
rs10168737 -- 171,230,615(+) TAGAT(A/T)TGAGA intron-variant
rs10168839 -- 171,140,458(+) GACTG(A/T)GAGGC intron-variant
rs10169565 -- 171,227,413(+) ACTGC(A/T)GGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TLK1 Gene

Variant ID Type Subtype PubMed ID
dgv1186e212 CNV loss 25503493
esv2660349 CNV deletion 23128226
esv2664440 CNV deletion 23128226
esv3310512 CNV novel sequence insertion 20981092
esv3349102 CNV duplication 20981092
esv3399332 CNV insertion 20981092
esv3593343 CNV gain 21293372
esv3593346 CNV loss 21293372
esv3593347 CNV loss 21293372
nsv3030 CNV insertion 18451855
nsv522291 CNV loss 19592680
nsv834456 CNV loss 17160897

Variation tolerance for TLK1 Gene

Residual Variation Intolerance Score: 12.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.86; 34.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TLK1 Gene

Human Gene Mutation Database (HGMD)
TLK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLK1 Gene

Disorders for TLK1 Gene

Relevant External Links for TLK1

Genetic Association Database (GAD)
TLK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TLK1

No disorders were found for TLK1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TLK1 Gene

Publications for TLK1 Gene

  1. Human tousled like kinases are targeted by an ATM- and Chk1-dependent DNA damage checkpoint. (PMID: 12660173) Groth A. … Hansen K. (EMBO J. 2003) 2 3 4 64
  2. Identification of human Asf1 chromatin assembly factors as substrates of Tousled-like kinases. (PMID: 11470414) Sillje H.H.W. … Nigg E.A. (Curr. Biol. 2001) 3 4 22 64
  3. cDNA cloning and chromosomal mapping of genes encoding novel protein kinases termed PKU-alpha and PKU-beta, which have nuclear localization signal. (PMID: 9427565) Yamakawa A. … Date T. (Gene 1997) 2 3 4 64
  4. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PMID: 22267201) Stolk L. … Lunetta K.L. (Nat. Genet. 2012) 3 46 64
  5. PKU-beta/TLK1 regulates myosin II activities, and is required for accurate equaled chromosome segregation. (PMID: 18838128) Hashimoto M. … Date T. (Mutat. Res. 2008) 3 22 64

Products for TLK1 Gene

Sources for TLK1 Gene

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