Gene Gene information from NCBI Gene database.
Entrez ID 9874
Gene name Tousled like kinase 1
Gene symbol TLK1
Synonyms (NCBI Gene)
PKU-beta
Chromosome 2
Chromosome location 2q31.1
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 ac
miRNA miRNA information provided by mirtarbase database.
866
miRTarBase ID miRNA Experiments Reference
MIRT027139 hsa-miR-103a-3p Sequencing 20371350
MIRT031590 hsa-miR-16-5p Sequencing 20371350
MIRT031590 hsa-miR-16-5p CLASH 23622248
MIRT050002 hsa-miR-28-5p CLASH 23622248
MIRT721134 hsa-miR-4731-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IDA 12660173
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608438 11841 ENSG00000198586
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKI8
Protein name Serine/threonine-protein kinase tousled-like 1 (EC 2.7.11.1) (PKU-beta) (Tousled-like kinase 1)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 456 734 Protein kinase domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:10588641, ECO:00
Sequence
MSVQSSSGSLEGPPSWSQLSTSPTPGSAAAARSLLNHTPPSGRPREGAMDELHSLDPRRQ
ELLEARFTGVASGSTGSTGSCSVGAKASTNNESSNHSFGSLGSLSDKESETPEKKQSESS
RGRKRKAENQNESSQGKSIGGRGHKISDYFEYQGGNGSSPVRGIPPAIRSPQNSHSHSTP
SSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRID
DLLRANCDLRRQIDEQQKLLEKYKERLNKCISMSKKLLIEKSTQEKLSSREKSMQDRLRL
GHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAP
STNSEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAE
LERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFSEVYKAFDLYEQR
YAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEY
CEGNDLDFYLKQHKLMSEKEARSIVMQIVNALRYLNEIKPPIIHYDLKPGNILLVDGTAC
GEIKITDFGLSKIMDDDSYGVDGMDLTSQGAGTYWYLPPECFVVGKEPPKISNKVDVWSV
GVIFFQCLYGRKPFGHNQSQQDILQENTILKATEVQFPVKPVVSSEAKAFIRRCLAYRKE
DRFDVHQLANDPYL
LPHMRRSNSSGNLHMAGLTASPTPPSSSIITY
Sequence length 766
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder Uncertain significance rs1684682666 RCV003325443
See cases Uncertain significance rs2105613845 RCV003313796
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Lymphoma Non Hodgkin Associate 36947060
Menopause Premature Associate 31362519
Neoplasm Metastasis Associate 36947060
Neoplasms Associate 30101194, 31914854
Primary Ovarian Insufficiency Associate 31362519
Prostatic Neoplasms Associate 31914854