Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1111
Gene name Gene Name - the full gene name approved by the HGNC.
Checkpoint kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHEK1
Synonyms (NCBI Gene) Gene synonyms aliases
CHK1, OZEMA21
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.2
Summary Summary of gene provided in NCBI Entrez 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,
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs772079899 C>G,T Pathogenic Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs1314180672 A>G,T Likely-pathogenic Splice acceptor variant, intron variant
rs1565374246 CC>- Pathogenic Coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000656 hsa-miR-424-5p Luciferase reporter assay 19956200
MIRT000647 hsa-miR-503-5p Luciferase reporter assay 19956200
MIRT016503 hsa-miR-193b-3p Microarray 20304954
MIRT030555 hsa-miR-24-3p Reporter assay;Western blot;qRT-PCR;Other 19748357
MIRT049764 hsa-miR-92a-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
BCL6 Repression 18346918
E2F1 Unknown 18660752
MYC Activation 23269272
TP53 Repression 15016801
TP53 Unknown 11152453
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IDA 16963448
GO:0000077 Process DNA damage checkpoint signaling IEA
GO:0000077 Process DNA damage checkpoint signaling IEA
GO:0000077 Process DNA damage checkpoint signaling IMP 19716789
GO:0000086 Process G2/M transition of mitotic cell cycle IDA 2188730
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603078 1925 ENSG00000149554
Protein
UniProt ID O14757
Protein name Serine/threonine-protein kinase Chk1 (EC 2.7.11.1) (CHK1 checkpoint homolog) (Cell cycle checkpoint kinase) (Checkpoint kinase-1)
Protein 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 (PubMed:11535615, PubMed:12399544, PubMed:12446774, PubMed:145
PDB 1IA8 , 1NVQ , 1NVR , 1NVS , 1ZLT , 1ZYS , 2AYP , 2BR1 , 2BRB , 2BRG , 2BRH , 2BRM , 2BRN , 2BRO , 2C3J , 2C3K , 2C3L , 2CGU , 2CGV , 2CGW , 2CGX , 2E9N , 2E9O , 2E9P , 2E9U , 2E9V , 2GDO , 2GHG , 2HOG , 2HXL , 2HXQ , 2HY0 , 2QHM , 2QHN , 2R0U , 2WMQ , 2WMR , 2WMS , 2WMT , 2WMU , 2WMV , 2WMW , 2WMX , 2X8D , 2X8E , 2X8I , 2XEY , 2XEZ , 2XF0 , 2YDI , 2YDJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 9 265 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed ubiquitously with the most abundant expression in thymus, testis, small intestine and colon. {ECO:0000269|PubMed:9278511, ECO:0000269|PubMed:9382850}.
Sequence
MAVPFVEDWDLVQTLGEGAYGEVQLAVNRVTEEAVAVKIVDMKRAVDCPENIKKEICINK
MLNHENVVKFYGHRREGNIQYLFLEYCSGGELFDRIEPDIGMPEPDAQRFFHQLMAGVVY
LHGIGITHRDIKPENLLLDERDNLKISDFGLATVFRYNNRERLLNKMCGTLPYVAPELLK
RREFHAEPVDVWSCGIVLTAMLAGELPWDQPSDSCQEYSDWKEKKTYLNPWKKIDSAPLA
LLHKILVENPSARITIPDIKKDRWY
NKPLKKGAKRPRVTSGGVSESPSGFSKHIQSNLDF
SPVNSASSEENVKYSSSQPEPRTGLSLWDTSPSYIDKLVQGISFSQPTCPDHMLLNSQLL
GTPGSSQNPWQRLVKRMTRFFTKLDADKSYQCLKETCEKLGYQWKKSCMNQVTISTTDRR
NNKLIFKVNLLEMDDKILVDFRLSKGDGLEFKRHFLKIKGKLIDIVSSQKIWLPAT
Sequence length 476
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cell cycle
p53 signaling pathway
Cellular senescence
Human T-cell leukemia virus 1 infection
Human immunodeficiency virus 1 infection
Viral carcinogenesis
  Signaling by SCF-KIT
Activation of ATR in response to replication stress
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
TP53 Regulates Transcription of DNA Repair Genes
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
Transcriptional Regulation by E2F6
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Carcinoma hereditary breast carcinoma N/A N/A GenCC
Ovarian cancer familial ovarian cancer N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aagenaes syndrome Associate 29118324
Acquired Immunodeficiency Syndrome Associate 37468905
Acute Aortic Syndrome Associate 31721906
Adenocarcinoma Follicular Associate 27329729
Adenocarcinoma of Lung Associate 24113549, 29870138, 30607635, 32121037, 32578582, 36714024, 37023702, 37608989, 37762228, 38071755
Adrenocortical Carcinoma Associate 30413320
Alzheimer Disease Associate 23550703
Anemia Hemolytic Associate 21389083
Aneuploidy Inhibit 23454898
Aniridia Associate 21423868