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

    Gene ID: 9874, updated on 10-Oct-2024

    Summary

    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
    NEW
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    Genomic context

    See TLK1 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (170990823..171231293, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (171467942..171708444, complement)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0137

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 remodeling 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 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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001136554.2NP_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:401699
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
    2. NM_001136555.2NP_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:353651
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
    3. NM_012290.5NP_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:209454
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd14040
      Location:449747
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1

    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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q9UKI8
      Conserved Domains (1) summary
      cd14040
      Location:232530
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
    2. XM_011512238.4XP_011510540.1  serine/threonine-protein kinase tousled-like 1 isoform X1

      UniProtKB/TrEMBL
      A8K8Z3
      Conserved Domains (2) summary
      cd14040
      Location:386684
      STKc_TLK1; Catalytic domain of the Serine/Threonine kinase, Tousled-Like Kinase 1
      cl25732
      Location:210376
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_047446530.1XP_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_054344769.1XP_054200744.1  serine/threonine-protein kinase tousled-like 1 isoform X2

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

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

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

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

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

      UniProtKB/TrEMBL
      B3KRP1