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    CHEK1 checkpoint kinase 1 [ Homo sapiens (human) ]

    Gene ID: 1111, updated on 5-Jan-2025

    Summary

    Official Symbol
    CHEK1provided by HGNC
    Official Full Name
    checkpoint kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:1925
    See related
    Ensembl:ENSG00000149554 MIM:603078; AllianceGenome:HGNC:1925
    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
    CHK1; OZEMA21
    Summary
    The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Broad expression in bone marrow (RPKM 4.6), lymph node (RPKM 3.5) and 23 other tissues See more
    Orthologs
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    Genomic context

    See CHEK1 in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125625136..125681124)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125653757..125709785)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125495031..125546150)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene STT3A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1156, pseudogene Neighboring gene EI24 autophagy associated transmembrane protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125462019-125462613 Neighboring gene STT3 oligosaccharyltransferase complex catalytic subunit A Neighboring gene uncharacterized LOC118567325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125496550-125497093 Neighboring gene RNA, U2 small nuclear 35, pseudogene Neighboring gene uncharacterized LOC105369551 Neighboring gene acrosomal vesicle protein 1 Neighboring gene prostate and testis expressed 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (892 hits/1323 screens)

    Associated conditions

    Description Tests
    Oocyte/zygote/embryo maturation arrest 21
    MedGen: C5882722 OMIM: 620610 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-11-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2021-11-10)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr activates ATR, resulting in phosphorylation of Chk1 and activation of the ATR-mediated DNA damage response PubMed
    vpr Phosphorylation of Chk1 at position Ser345 is required for HIV-1 Vpr-induced G2/M arrest, possibly through signaling of DNA re-replication via Cdt1 PubMed
    vpr ATR-induced phosphorylation of Chk1-Ser(345) requires PP2A only when Vpr activates ATR PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 28
    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity  
    enables AMP-activated protein kinase activity  
    enables ATP binding  
    enables DNA-dependent protein kinase activity  
    enables Rho-dependent protein serine/threonine kinase activity  
    enables eukaryotic translation initiation factor 2alpha kinase activity  
    enables histone H2AS1 kinase activity  
    enables histone H2AS121 kinase activity  
    enables histone H2AT120 kinase activity  
    enables histone H2AXS139 kinase activity  
    enables histone H2BS14 kinase activity  
    enables histone H2BS36 kinase activity  
    enables histone H3S10 kinase activity  
    enables histone H3S28 kinase activity  
    enables histone H3S57 kinase activity  
    enables histone H3T11 kinase activity  
    enables histone H3T11 kinase activity PubMed 
    enables histone H3T3 kinase activity  
    enables histone H3T45 kinase activity  
    enables histone H3T6 kinase activity  
    enables histone H4S1 kinase activity  
    enables protein binding PubMed 
    enables protein domain specific binding PubMed 
    enables protein kinase activity PubMed 
    enables protein serine kinase activity  
    enables protein serine/threonine kinase activity PubMed 
    enables protein serine/threonine kinase activity  
    enables ribosomal protein S6 kinase activity  
    Items 1 - 25 of 28
    Items 1 - 25 of 31
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling PubMed 
    involved_in DNA damage checkpoint signaling PubMed 
    involved_in DNA damage response PubMed 
    involved_in DNA damage response  
    involved_in DNA repair PubMed 
    involved_in DNA replication  
    involved_in G2/M transition of mitotic cell cycle  
    involved_in apoptotic process PubMed 
    involved_in apoptotic process involved in development  
    involved_in cellular response to caffeine  
    involved_in cellular response to mechanical stimulus PubMed 
    involved_in chromatin remodeling  
    involved_in inner cell mass cell proliferation  
    involved_in mitotic G2 DNA damage checkpoint signaling  
    involved_in mitotic G2 DNA damage checkpoint signaling PubMed 
    involved_in mitotic G2/M transition checkpoint PubMed 
    involved_in mitotic G2/M transition checkpoint PubMed 
    involved_in negative regulation of DNA biosynthetic process  
    involved_in negative regulation of G0 to G1 transition  
    involved_in negative regulation of gene expression, epigenetic  
    involved_in negative regulation of mitotic nuclear division PubMed 
    involved_in nucleus organization  
    involved_in peptidyl-threonine phosphorylation PubMed 
    involved_in positive regulation of cell cycle PubMed 
    involved_in protein phosphorylation PubMed 
    involved_in regulation of cell population proliferation  
    involved_in regulation of double-strand break repair via homologous recombination PubMed 
    involved_in regulation of mitotic centrosome separation PubMed 
    involved_in regulation of signal transduction by p53 class mediator  
    involved_in replicative senescence PubMed 
    involved_in signal transduction in response to DNA damage PubMed 
    Items 1 - 25 of 31
    Component Evidence Code Pubs
    located_in centrosome PubMed 
    located_in chromatin  
    colocalizes_with chromosome, telomeric region PubMed 
    located_in condensed nuclear chromosome PubMed 
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in extracellular space PubMed 
    located_in intracellular membrane-bounded organelle  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in nucleus PubMed 
    part_of protein-containing complex PubMed 
    located_in replication fork  

    General protein information

    Preferred Names
    serine/threonine-protein kinase Chk1
    Names
    CHK1 checkpoint homolog
    Checkpoint, S. pombe, homolog of, 1
    Chk1-S
    cell cycle checkpoint kinase
    NP_001107593.1
    NP_001107594.1
    NP_001231775.1
    NP_001265.2
    NP_001317356.2
    NP_001317357.1
    XP_011540862.1
    XP_024304105.1
    XP_047282267.1
    XP_047282268.1
    XP_047282269.1
    XP_054223511.1
    XP_054223512.1
    XP_054223513.1
    XP_054223514.1

    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.

    Genomic

    1. NG_030049.3 RefSeqGene

      Range
      5029..37013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001114121.2 → NP_001107593.1  serine/threonine-protein kinase Chk1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AK300082, AW149126, BC004202, BX419129, CA441277, CA868104, DA567616
      Consensus CDS
      CCDS8459.1
      UniProtKB/Swiss-Prot
      A8K934, B4DDD0, B4DSK3, B5BTY6, F5H7S4, H2BI51, O14757
      Related
      ENSP00000412504.2, ENST00000428830.6
      Conserved Domains (1) summary
      cd14069
      Location:7 → 265
      STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
    2. NM_001114122.3 → NP_001107594.1  serine/threonine-protein kinase Chk1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP001132
      Consensus CDS
      CCDS8459.1
      UniProtKB/Swiss-Prot
      A8K934, B4DDD0, B4DSK3, B5BTY6, F5H7S4, H2BI51, O14757
      Related
      ENSP00000388648.1, ENST00000438015.7
      Conserved Domains (1) summary
      cd14069
      Location:7 → 265
      STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
    3. NM_001244846.1 → NP_001231775.1  serine/threonine-protein kinase Chk1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AA224205, AI750792, AK293143, AK300082, AW149126, BC004202, BM455102, BX114781, BX419129, BX506561, CA441277, CA868104, DA567616
      Consensus CDS
      CCDS58191.1
      UniProtKB/Swiss-Prot
      O14757
      UniProtKB/TrEMBL
      B4DT73
      Related
      ENSP00000278916.4, ENST00000278916.8
      Conserved Domains (2) summary
      smart00220
      Location:9 → 264
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14069
      Location:7 → 265
      STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
    4. NM_001274.5 → NP_001265.2  serine/threonine-protein kinase Chk1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AA224205, AI750792, BC004202, BC017575, BG191840, BM455102, BP203333, BX114781, BX506561, CA441277
      Consensus CDS
      CCDS8459.1
      UniProtKB/Swiss-Prot
      A8K934, B4DDD0, B4DSK3, B5BTY6, F5H7S4, H2BI51, O14757
      Related
      ENSP00000435371.1, ENST00000534070.5
      Conserved Domains (1) summary
      cd14069
      Location:7 → 265
      STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
    5. NM_001330427.2 → NP_001317356.2  serine/threonine-protein kinase Chk1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP001132
      Conserved Domains (1) summary
      cl21453
      Location:1 → 164
      PKc_like; Protein Kinases, catalytic domain
    6. NM_001330428.1 → NP_001317357.1  serine/threonine-protein kinase Chk1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP001132
      Consensus CDS
      CCDS81645.1
      UniProtKB/Swiss-Prot
      O14757

    RNA

    1. NR_045204.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AA224205, AI750792, AK300082, AW149126, BC004202, BG191840, BM455102, BX114781, BX419129, BX506561, CA441277, CA868104, DA567616
    2. NR_045205.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AA224205, AI750792, AK292549, BC004202, BG191840, BG468734, BM455102, BX114781, BX506561, CA441277

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      125625136..125681124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542560.3 → XP_011540862.1  serine/threonine-protein kinase Chk1 isoform X1

      UniProtKB/TrEMBL
      B4DT73, E7EPP6
      Related
      ENSP00000391090.2, ENST00000427383.6
      Conserved Domains (2) summary
      smart00220
      Location:117 → 280
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:114 → 281
      PKc_like; Protein Kinases, catalytic domain
    2. XM_024448337.2 → XP_024304105.1  serine/threonine-protein kinase Chk1 isoform X2

      UniProtKB/Swiss-Prot
      A8K934, B4DDD0, B4DSK3, B5BTY6, F5H7S4, H2BI51, O14757
      Conserved Domains (1) summary
      cd14069
      Location:7 → 265
      STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
    3. XM_047426313.1 → XP_047282269.1  serine/threonine-protein kinase Chk1 isoform X4

      Related
      ENSP00000442317.2, ENST00000544373.5
    4. XM_047426311.1 → XP_047282267.1  serine/threonine-protein kinase Chk1 isoform X2

      UniProtKB/Swiss-Prot
      A8K934, B4DDD0, B4DSK3, B5BTY6, F5H7S4, H2BI51, O14757
      Related
      ENSP00000432890.1, ENST00000524737.6
    5. XM_047426312.1 → XP_047282268.1  serine/threonine-protein kinase Chk1 isoform X3

      UniProtKB/TrEMBL
      B4DT73

    RNA

    1. XR_007062447.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      125653757..125709785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367536.1 → XP_054223511.1  serine/threonine-protein kinase Chk1 isoform X1

      UniProtKB/TrEMBL
      B4DT73
    2. XM_054367537.1 → XP_054223512.1  serine/threonine-protein kinase Chk1 isoform X2

    3. XM_054367538.1 → XP_054223513.1  serine/threonine-protein kinase Chk1 isoform X2

    4. XM_054367539.1 → XP_054223514.1  serine/threonine-protein kinase Chk1 isoform X3

      UniProtKB/TrEMBL
      B4DT73

    RNA

    1. XR_008488333.1 RNA Sequence

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