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Aliases for CHEK1 Gene

Aliases for CHEK1 Gene

  • Checkpoint Kinase 1 2 3
  • Cell Cycle Checkpoint Kinase 3 4
  • CHK1 Checkpoint Homolog 3 4
  • Checkpoint Kinase-1 3 4
  • EC 2.7.11.1 4 63
  • CHK1 3 4
  • Checkpoint, S. Pombe, Homolog Of, 1 3
  • CHK1 (Checkpoint, S.Pombe) Homolog 2
  • CHK1 Checkpoint Homolog (S. Pombe) 2
  • EC 2.7.11 63
  • Chk1-S 3

External Ids for CHEK1 Gene

Previous GeneCards Identifiers for CHEK1 Gene

  • GC11P127497
  • GC11P127009
  • GC11P125529
  • GC11P125033
  • GC11P125001
  • GC11P125495
  • GC11P121436

Summaries for CHEK1 Gene

Entrez Gene Summary for CHEK1 Gene

  • 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]

GeneCards Summary for CHEK1 Gene

CHEK1 (Checkpoint Kinase 1) is a Protein Coding gene. Diseases associated with CHEK1 include ataxia-telangiectasia and li-fraumeni syndrome. Among its related pathways are Signaling by GPCR and Interleukin receptor SHC signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity.

UniProtKB/Swiss-Prot for CHEK1 Gene

  • Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA. May also negatively regulate cell cycle progression during unperturbed cell cycles. This regulation is achieved by a number of mechanisms that together help to preserve the integrity of the genome. Recognizes the substrate consensus sequence [R-X-X-S/T]. Binds to and phosphorylates CDC25A, CDC25B and CDC25C. Phosphorylation of CDC25A at Ser-178 and Thr-507 and phosphorylation of CDC25C at Ser-216 creates binding sites for 14-3-3 proteins which inhibit CDC25A and CDC25C. Phosphorylation of CDC25A at Ser-76, Ser-124, Ser-178, Ser-279 and Ser-293 promotes proteolysis of CDC25A. Phosphorylation of CDC25A at Ser-76 primes the protein for subsequent phosphorylation at Ser-79, Ser-82 and Ser-88 by NEK11, which is required for polyubiquitination and degradation of CDCD25A. Inhibition of CDC25 leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. Also phosphorylates NEK6. Binds to and phosphorylates RAD51 at Thr-309, which promotes the release of RAD51 from BRCA2 and enhances the association of RAD51 with chromatin, thereby promoting DNA repair by homologous recombination. Phosphorylates multiple sites within the C-terminus of TP53, which promotes activation of TP53 by acetylation and promotes cell cycle arrest and suppression of cellular proliferation. Also promotes repair of DNA cross-links through phosphorylation of FANCE. Binds to and phosphorylates TLK1 at Ser-743, which prevents the TLK1-dependent phosphorylation of the chromatin assembly factor ASF1A. This may enhance chromatin assembly both in the presence or absence of DNA damage. May also play a role in replication fork maintenance through regulation of PCNA. May regulate the transcription of genes that regulate cell-cycle progression through the phosphorylation of histones. Phosphorylates histone H3.1 (to form H3T11ph), which leads to epigenetic inhibition of a subset of genes. May also phosphorylate RB1 to promote its interaction with the E2F family of transcription factors and subsequent cell cycle arrest

  • Isoform 2: Endogenous repressor of isoform 1, interacts with, and antagonizes CHK1 to promote the S to G2/M phase transition

Tocris Summary for CHEK1 Gene

  • Checkpoint kinases (Chks) are serine/threonine kinases that are involved in the control of the cell cycle. Two subtypes have so far been identified, Chk1 and Chk2. They are essential components to delay cell cycle progression in all cells and act at all three cell cycle checkpoints.

Gene Wiki entry for CHEK1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHEK1 Gene

Genomics for CHEK1 Gene

Regulatory Elements for CHEK1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CHEK1 Gene

Chromosome:
11
Start:
125,624,920 bp from pter
End:
125,676,259 bp from pter
Size:
51,340 bases
Orientation:
Plus strand

Genomic View for CHEK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHEK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHEK1 Gene

Proteins for CHEK1 Gene

  • Protein details for CHEK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14757-CHK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase Chk1
    Protein Accession:
    O14757
    Secondary Accessions:
    • A8K934
    • B4DDD0
    • B4DSK3
    • B5BTY6
    • F5H7S4
    • H2BI51

    Protein attributes for CHEK1 Gene

    Size:
    476 amino acids
    Molecular mass:
    54434 Da
    Quaternary structure:
    • Interacts (phosphorylated by ATR) with RAD51. Interacts with and phosphorylates CLSPN, an adapter protein that regulates the ATR-dependent phosphorylation of CHEK1. Interacts with BRCA1. Interacts with and phosphorylates CDC25A, CDC25B and CDC25C. Interacts with FBXO6, which regulates CHEK1. Interacts with PPM1D, which regulates CHEK1 through dephosphorylation. Interacts with TIMELESS; DNA damage-dependent. Interacts with FEM1B; activates CHEK1 in response to stress. Interacts with TLK1. Interacts with XPO1 and YWHAZ. Isoform 1 associates with isoform 2, the interaction is disrupted upon phosphorylation by ATR. Interacts with CDK5RAP3; antagonizes CHEK1 (PubMed:19223857).

    Three dimensional structures from OCA and Proteopedia for CHEK1 Gene

    Alternative splice isoforms for CHEK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHEK1 Gene

Proteomics data for CHEK1 Gene at MOPED

Post-translational modifications for CHEK1 Gene

  • Phosphorylated by ATR in a RAD17-dependent manner in response to ultraviolet irradiation and inhibition of DNA replication. Phosphorylated by ATM in response to ionizing irradiation. ATM and ATR can both phosphorylate Ser-317 and Ser-345 and this results in enhanced kinase activity. Phosphorylation at Ser-345 induces a change in the conformation of the protein, activates the kinase activity and is a prerequisite for interaction with FBXO6 and subsequent ubiquitination at Lys-436. Phosphorylation at Ser-345 also increases binding to 14-3-3 proteins and promotes nuclear retention. Conversely, dephosphorylation at Ser-345 by PPM1D may contribute to exit from checkpoint mediated cell cycle arrest. Phosphorylation at Ser-280 by AKT1/PKB, may promote mono and/or diubiquitination. Also phosphorylated at undefined residues during mitotic arrest, resulting in decreased activity.
  • Ubiquitinated. Mono or diubiquitination promotes nuclear exclusion (By similarity). The activated form (phosphorylated on Ser-345) is polyubiquitinated at Lys-436 by some SCF-type E3 ubiquitin ligase complex containing FBXO6 promoting its degradation. Ubiquitination and degradation are required to terminate the checkpoint and ensure that activated CHEK1 does not accumulate as cells progress through S phase, when replication forks encounter transient impediments during normal DNA replication.
  • Ubiquitination at Lys 180, Lys 244, and Lys 436
  • Modification sites at PhosphoSitePlus

Domains & Families for CHEK1 Gene

Gene Families for CHEK1 Gene

Suggested Antigen Peptide Sequences for CHEK1 Gene

Graphical View of Domain Structure for InterPro Entry

O14757

UniProtKB/Swiss-Prot:

CHK1_HUMAN :
  • The autoinhibitory region (AIR) inhibits the activity of the kinase domain.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NIM1 subfamily.
Domain:
  • The autoinhibitory region (AIR) inhibits the activity of the kinase domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. NIM1 subfamily.
genes like me logo Genes that share domains with CHEK1: view

Function for CHEK1 Gene

Molecular function for CHEK1 Gene

GENATLAS Biochemistry:
checkpoint,S pombe homolog 1,component of the G2/M checkpoint,phosphorylating and inactivating CDC25C,required for cell cycle arrest in reponse to DNA damage,in association with 14.3.3 proteins (YWHA*),altered in colon and endometrial tumors
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated through phosphorylation predominantly by ATR but also by ATM in response to DNA damage or inhibition of DNA replication. Activation is modulated by several mediators including CLSPN, BRCA1 and FEM1B
UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA. May also negatively regulate cell cycle progression during unperturbed cell cycles. This regulation is achieved by a number of mechanisms that together help to preserve the integrity of the genome. Recognizes the substrate consensus sequence [R-X-X-S/T]. Binds to and phosphorylates CDC25A, CDC25B and CDC25C. Phosphorylation of CDC25A at Ser-178 and Thr-507 and phosphorylation of CDC25C at Ser-216 creates binding sites for 14-3-3 proteins which inhibit CDC25A and CDC25C. Phosphorylation of CDC25A at Ser-76, Ser-124, Ser-178, Ser-279 and Ser-293 promotes proteolysis of CDC25A. Phosphorylation of CDC25A at Ser-76 primes the protein for subsequent phosphorylation at Ser-79, Ser-82 and Ser-88 by NEK11, which is required for polyubiquitination and degradation of CDCD25A. Inhibition of CDC25 leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. Also phosphorylates NEK6. Binds to and phosphorylates RAD51 at Thr-309, which promotes the release of RAD51 from BRCA2 and enhances the association of RAD51 with chromatin, thereby promoting DNA repair by homologous recombination. Phosphorylates multiple sites within the C-terminus of TP53, which promotes activation of TP53 by acetylation and promotes cell cycle arrest and suppression of cellular proliferation. Also promotes repair of DNA cross-links through phosphorylation of FANCE. Binds to and phosphorylates TLK1 at Ser-743, which prevents the TLK1-dependent phosphorylation of the chromatin assembly factor ASF1A. This may enhance chromatin assembly both in the presence or absence of DNA damage. May also play a role in replication fork maintenance through regulation of PCNA. May regulate the transcription of genes that regulate cell-cycle progression through the phosphorylation of histones. Phosphorylates histone H3.1 (to form H3T11ph), which leads to epigenetic inhibition of a subset of genes. May also phosphorylate RB1 to promote its interaction with the E2F family of transcription factors and subsequent cell cycle arrest
UniProtKB/Swiss-Prot Function:
Isoform 2: Endogenous repressor of isoform 1, interacts with, and antagonizes CHK1 to promote the S to G2/M phase transition

Enzyme Numbers (IUBMB) for CHEK1 Gene

Gene Ontology (GO) - Molecular Function for CHEK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IMP 22024163
GO:0004674 protein serine/threonine kinase activity IDA 16963448
GO:0005515 protein binding IPI 11836499
GO:0005524 ATP binding IEA --
GO:0035402 histone kinase activity (H3-T11 specific) IDA 18243098
genes like me logo Genes that share ontologies with CHEK1: view
genes like me logo Genes that share phenotypes with CHEK1: view

Animal Models for CHEK1 Gene

MGI Knock Outs for CHEK1:

Animal Model Products

CRISPR Products

miRNA for CHEK1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHEK1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CHEK1 Gene

Localization for CHEK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHEK1 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Nuclear export is mediated at least in part by XPO1/CRM1. Also localizes to the centrosome specifically during interphase, where it may protect centrosomal CDC2 kinase from inappropriate activation by cytoplasmic CDC25B.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHEK1 Gene COMPARTMENTS Subcellular localization image for CHEK1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for CHEK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IDA 15149599
GO:0000785 chromatin ISS --
GO:0000794 condensed nuclear chromosome IDA 9382850
GO:0005615 extracellular space IDA 23580065
GO:0005634 nucleus IDA 15311285
genes like me logo Genes that share ontologies with CHEK1: view

Pathways & Interactions for CHEK1 Gene

genes like me logo Genes that share pathways with CHEK1: view

PCR Array Products

SIGNOR curated interactions for CHEK1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for CHEK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IMP 19716789
GO:0000086 G2/M transition of mitotic cell cycle IEA --
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair TAS --
genes like me logo Genes that share ontologies with CHEK1: view

Drugs & Compounds for CHEK1 Gene

(75) Drugs for CHEK1 Gene - From: NovoSeek, HMDB, DGIdb, Tocris, ApexBio, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lacosamide Approved Pharma inhibitor Checkpoint kinase inhibitor,ATP competitive, Checkpoint kinase (Chk) inhibitor 79
Floxuridine Approved Pharma Antineoplastic antimetabolite, RNA and DNA synthesis inhibitor, Inhibitor of thymidylate synthetase; anticancer agent 47
Adenosine triphosphate Approved Nutra 0
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Cytarabine Approved, Investigational Pharma 995

(28) Additional Compounds for CHEK1 Gene - From: HMDB, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
AZD 7762 hydrochloride
1246094-78-9
NSC 109555 ditosylate
66748-43-4
PF 477736
952021-60-2
TCS 2312
838823-31-7
genes like me logo Genes that share compounds with CHEK1: view

Drug Products

Transcripts for CHEK1 Gene

Unigene Clusters for CHEK1 Gene

Checkpoint kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHEK1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHEK1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^
SP1: -
SP2: -
SP3: - - - - - -
SP4:
SP5: - - - - - - -
SP6: - - - - -
SP7: -
SP8: -
SP9: - -
SP10: - -
SP11:

ExUns: 15 ^ 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CHEK1 Gene

GeneLoc Exon Structure for
CHEK1
ECgene alternative splicing isoforms for
CHEK1

Expression for CHEK1 Gene

mRNA expression in normal human tissues for CHEK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHEK1 Gene

This gene is overexpressed in Breast (62.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHEK1 Gene



SOURCE GeneReport for Unigene cluster for CHEK1 Gene Hs.24529

mRNA Expression by UniProt/SwissProt for CHEK1 Gene

O14757-CHK1_HUMAN
Tissue specificity: Expressed ubiquitously with the most abundant expression in thymus, testis, small intestine and colon.
genes like me logo Genes that share expression patterns with CHEK1: view

Protein tissue co-expression partners for CHEK1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CHEK1 Gene

Orthologs for CHEK1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHEK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHEK1 35
  • 92.51 (n)
  • 95.59 (a)
CHEK1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHEK1 35
  • 92.95 (n)
  • 96.92 (a)
CHEK1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chek1 35
  • 89.01 (n)
  • 93.07 (a)
Chek1 16
Chek1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHEK1 35
  • 99.72 (n)
  • 99.58 (a)
CHEK1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chek1 35
  • 88.59 (n)
  • 94.12 (a)
oppossum
(Monodelphis domestica)
Mammalia CHEK1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHEK1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves STT3A 35
  • 69.83 (n)
  • 84.6 (a)
STT3A 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHEK1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chek1 35
  • 71.19 (n)
  • 78.18 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398191 35
zebrafish
(Danio rerio)
Actinopterygii chek1 35
  • 63.88 (n)
  • 65.27 (a)
efnb1 35
chek1 36
  • 66 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1073 35
fruit fly
(Drosophila melanogaster)
Insecta grp 37
  • 45 (a)
grp 35
  • 53.82 (n)
  • 50.44 (a)
grp 36
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008118 35
  • 54.67 (n)
  • 54.74 (a)
worm
(Caenorhabditis elegans)
Secernentea DC2.7a 37
  • 33 (a)
DC2.7b 37
  • 38 (a)
R02C2.1 37
  • 37 (a)
R02C2.2 37
  • 36 (a)
Y43D4A.6 37
  • 40 (a)
chk-1 35
  • 47.8 (n)
  • 41.14 (a)
chk-1 36
  • 27 (a)
OneToMany
kin-33 36
  • 18 (a)
OneToMany
kin-34 36
  • 30 (a)
OneToMany
R02C2.1 36
  • 30 (a)
OneToMany
R02C2.6 36
  • 30 (a)
OneToMany
Y43D4A.6 36
  • 32 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL185C 35
  • 44.76 (n)
  • 34.59 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01276g 35
  • 44.84 (n)
  • 32.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHK1 35
  • 45.68 (n)
  • 34.37 (a)
CHK1 36
  • 20 (a)
OneToOne
CHK1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1196 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08346 35
  • 47.47 (n)
  • 36.58 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes chk1 35
  • 45.82 (n)
  • 33.89 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for CHEK1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHEK1 Gene

ENSEMBL:
Gene Tree for CHEK1 (if available)
TreeFam:
Gene Tree for CHEK1 (if available)

Paralogs for CHEK1 Gene

genes like me logo Genes that share paralogs with CHEK1: view

No data available for Paralogs for CHEK1 Gene

Variants for CHEK1 Gene

Sequence variations from dbSNP and Humsavar for CHEK1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs471164 -- 125,650,315(-) gaaac(A/C)aagta intron-variant
rs471269 -- 125,650,281(-) caacc(A/C)aaact intron-variant
rs473526 -- 125,671,120(-) agacc(A/C)gcttg intron-variant
rs473613 -- 125,671,087(-) tctac(A/C)aaaag intron-variant
rs474360 -- 125,668,670(-) agact(A/G)aggca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHEK1 Gene

Variant ID Type Subtype PubMed ID
esv32964 CNV Gain+Loss 17666407

Variation tolerance for CHEK1 Gene

Residual Variation Intolerance Score: 11.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.89; 67.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHEK1 Gene

HapMap Linkage Disequilibrium report
CHEK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHEK1 Gene

Disorders for CHEK1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CHEK1 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
ataxia-telangiectasia
  • ataxia telangiectasia
li-fraumeni syndrome
  • li-fraumeni familiar cancer susceptibility syndrome
fanconi anemia, complementation group a
  • fanconi's anemia
breast cancer
  • breast cancer, invasive ductal
colorectal cancer
  • colorectal cancer, somatic
- elite association
Search CHEK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CHEK1

Genetic Association Database (GAD)
CHEK1
Human Genome Epidemiology (HuGE) Navigator
CHEK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHEK1
genes like me logo Genes that share disorders with CHEK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHEK1 Gene

Publications for CHEK1 Gene

  1. Atm-dependent interactions of a mammalian chk1 homolog with meiotic chromosomes. (PMID: 9382850) Flaggs G. … Carr A.M. (Curr. Biol. 1997) 2 23 67
  2. Checkpoint kinase 1 modulates sensitivity to cisplatin after spindle checkpoint activation in SW620 cells. (PMID: 19931410) Peralta-Sastre A. … Sanchez-Perez I. (Int. J. Biochem. Cell Biol. 2010) 23 67
  3. Chk1 haploinsufficiency results in anemia and defective erythropoiesis. (PMID: 20052416) Boles N.C. … Rosen J.M. (PLoS ONE 2010) 23 67
  4. Chk1 inhibition after replicative stress activates a double strand break response mediated by ATM and DNA-dependent protein kinase. (PMID: 20160494) McNeely S. … Tse A. (Cell Cycle 2010) 23 67
  5. ATR/Chk1 pathway is essential for resumption of DNA synthesis and cell survival in UV-irradiated XP variant cells. (PMID: 20123862) Despras E. … Kannouche P.L. (Hum. Mol. Genet. 2010) 23 67

Products for CHEK1 Gene

  • Addgene plasmids for CHEK1

Sources for CHEK1 Gene

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