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CHEK1 checkpoint kinase 1 [ Homo sapiens (human) ]

Gene ID: 1111, updated on 3-Nov-2024

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: 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

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H3T11 kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables histone H3T11 kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
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
 
Process Evidence Code Pubs
involved_in DNA damage checkpoint signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA damage response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA damage response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA replication TAS
Traceable Author Statement
more info
 
involved_in G2/M transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in apoptotic process involved in development IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to caffeine IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in chromatin remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inner cell mass cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in mitotic G2 DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitotic G2 DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic G2/M transition checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mitotic G2/M transition checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of G0 to G1 transition TAS
Traceable Author Statement
more info
 
involved_in negative regulation of gene expression, epigenetic ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of mitotic nuclear division IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nucleus organization IEA
Inferred from Electronic Annotation
more info
 
involved_in peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of mitotic centrosome separation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
involved_in replicative senescence NAS
Non-traceable Author Statement
more info
PubMed 
involved_in signal transduction in response to DNA damage IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
located_in condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular space HDA PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
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 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in replication fork IEA
Inferred from Electronic Annotation
more info
 

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_001114121.2NP_001107593.1  serine/threonine-protein kinase Chk1 isoform 1

    See identical proteins and their annotated locations for NP_001107593.1

    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:7265
    STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
  2. NM_001114122.3NP_001107594.1  serine/threonine-protein kinase Chk1 isoform 1

    See identical proteins and their annotated locations for NP_001107594.1

    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:7265
    STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
  3. NM_001244846.1NP_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:9264
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14069
    Location:7265
    STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
  4. NM_001274.5NP_001265.2  serine/threonine-protein kinase Chk1 isoform 1

    See identical proteins and their annotated locations for NP_001265.2

    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:7265
    STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
  5. NM_001330427.2NP_001317356.2  serine/threonine-protein kinase Chk1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP001132
    Conserved Domains (1) summary
    cl21453
    Location:1164
    PKc_like; Protein Kinases, catalytic domain
  6. NM_001330428.1NP_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_011542560.3XP_011540862.1  serine/threonine-protein kinase Chk1 isoform X1

    See identical proteins and their annotated locations for XP_011540862.1

    UniProtKB/TrEMBL
    B4DT73, E7EPP6
    Related
    ENSP00000391090.2, ENST00000427383.6
    Conserved Domains (2) summary
    smart00220
    Location:117280
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:114281
    PKc_like; Protein Kinases, catalytic domain
  2. XM_024448337.2XP_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:7265
    STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
  3. XM_047426313.1XP_047282269.1  serine/threonine-protein kinase Chk1 isoform X4

    Related
    ENSP00000442317.2, ENST00000544373.5
  4. XM_047426311.1XP_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_047426312.1XP_047282268.1  serine/threonine-protein kinase Chk1 isoform X3

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_054367536.1XP_054223511.1  serine/threonine-protein kinase Chk1 isoform X1

  2. XM_054367537.1XP_054223512.1  serine/threonine-protein kinase Chk1 isoform X2

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

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

RNA

  1. XR_008488333.1 RNA Sequence