CHEK1 checkpoint kinase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 11q24.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (125625136..125681124)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (125653757..125709785)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (125495031..125546150)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In silico and structure-based evaluation of deleterious mutations identified in human Chk1, Chk2, and Wee1 protein kinase.
Title: In silico and structure-based evaluation of deleterious mutations identified in human Chk1, Chk2, and Wee1 protein kinase.
CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection.
Title: CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection.
Combined Aurora Kinase A and CHK1 Inhibition Enhances Radiosensitivity of Triple-Negative Breast Cancer Through Induction of Apoptosis and Mitotic Catastrophe Associated With Excessive DNA Damage.
Title: Combined Aurora Kinase A and CHK1 Inhibition Enhances Radiosensitivity of Triple-Negative Breast Cancer Through Induction of Apoptosis and Mitotic Catastrophe Associated With Excessive DNA Damage.
Mild replication stress causes premature centriole disengagement via a sub-critical Plk1 activity under the control of ATR-Chk1.
Title: Mild replication stress causes premature centriole disengagement via a sub-critical Plk1 activity under the control of ATR-Chk1.
Long Noncoding RNA ZBED5-AS1 Facilitates Tumor Progression and Metastasis in Lung Adenocarcinoma via ZNF146/ATR/Chk1 Axis.
Title: Long Noncoding RNA ZBED5-AS1 Facilitates Tumor Progression and Metastasis in Lung Adenocarcinoma via ZNF146/ATR/Chk1 Axis.
Bioinformatic analysis of CHEK1 as a marker of glomerular epithelial cell injury in diabetic nephropathy.
Title: Bioinformatic analysis of CHEK1 as a marker of glomerular epithelial cell injury in diabetic nephropathy.
When more is less: heritable gain-of-function chk1 mutations impair human fertility.
Title: When more is less: heritable gain-of-function chk1 mutations impair human fertility.
The Prevalence of CHEK1 and CHEK2 Mutations in Prostate Cancer: a Retrospective Cohort Study.
Title: The Prevalence of CHEK1 and CHEK2 Mutations in Prostate Cancer: a Retrospective Cohort Study.
Claspin-Dependent and -Independent Chk1 Activation by a Panel of Biological Stresses.
Title: Claspin-Dependent and -Independent Chk1 Activation by a Panel of Biological Stresses.
PKR-Mediated Phosphorylation of eIF2a and CHK1 Is Associated with Doxorubicin-Mediated Apoptosis in HCC1143 Triple-Negative Breast Cancer Cells.
Title: PKR-Mediated Phosphorylation of eIF2a and CHK1 Is Associated with Doxorubicin-Mediated Apoptosis in HCC1143 Triple-Negative Breast Cancer Cells.

Submit: New GeneRIF Correction See all GeneRIFs (427)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oocyte/zygote/embryo maturation arrest 21 MedGen: CN375823 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH17743 (e-PCR)
- UniSTS:75323

D11S2092 (e-PCR)
- UniSTS:83568

RH92593 (e-PCR)
- UniSTS:88954

RH66419 (e-PCR)
- UniSTS:32637

A006U05 (e-PCR)
- UniSTS:17547

RH36540 (e-PCR)
- UniSTS:25497

ACRV1 (e-PCR)
- UniSTS:40945

WI-7841 (e-PCR)
- UniSTS:40436

RH122396 (e-PCR)
- UniSTS:138492

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	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	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	IBA Inferred from Biological aspect of Ancestor more info
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
part_of 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 more info	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

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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

EC 2.7.11.1

NP_001107594.1

EC 2.7.11.1

NP_001231775.1

EC 2.7.11.1

NP_001265.2

EC 2.7.11.1

NP_001317356.2

EC 2.7.11.1

NP_001317357.1

EC 2.7.11.1

XP_011540862.1

EC 2.7.11.1

XP_024304105.1

EC 2.7.11.1

XP_047282267.1

EC 2.7.11.1

XP_047282268.1

EC 2.7.11.1

XP_047282269.1

EC 2.7.11.1

XP_054223511.1

EC 2.7.11.1

XP_054223512.1

EC 2.7.11.1

XP_054223513.1

EC 2.7.11.1

XP_054223514.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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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

NG_030049.3 RefSeqGene

Range

5029..37013

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001114121.2 → NP_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:7 → 265

STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
NM_001114122.3 → NP_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:7 → 265

STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
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
NM_001274.5 → NP_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:7 → 265

STKc_Chk1; Catalytic domain of the Serine/Threonine kinase, Checkpoint kinase 1
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
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

NR_045204.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AA224205, AI750792, AK300082, AW149126, BC004202, BG191840, BM455102, BX114781, BX419129, BX506561, CA441277, CA868104, DA567616
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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

125625136..125681124

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542560.3 → XP_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:117 → 280

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl21453
Location:114 → 281

PKc_like; Protein Kinases, catalytic domain
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
XM_047426313.1 → XP_047282269.1 serine/threonine-protein kinase Chk1 isoform X4

Related

ENSP00000442317.2, ENST00000544373.5
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
XM_047426312.1 → XP_047282268.1 serine/threonine-protein kinase Chk1 isoform X3