Gene Gene information from NCBI Gene database.
Entrez ID 1111
Gene name Checkpoint kinase 1
Gene symbol CHEK1
Synonyms (NCBI Gene)
CHK1OZEMA21
Chromosome 11
Chromosome location 11q24.2
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,
SNPs SNP information provided by dbSNP.
3
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.
458
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 factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
BCL6 Repression 18346918
E2F1 Unknown 18660752
MYC Activation 23269272
TP53 Repression 15016801
TP53 Unknown 11152453
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
77
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603078 1925 ENSG00000149554
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Male infertility due to gonadal dysgenesis or sperm disorder Likely pathogenic rs199535573 RCV003991594
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oocyte/zygote/embryo maturation arrest 21 Pathogenic rs2136029824, rs2498414424, rs2498414471, rs2498413938 RCV003444093
RCV003444094
RCV003444095
RCV003444096
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHEK1-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO TESTICULAR DYSGENESIS OR SPERM DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26542114, 31717700
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 19398952, 22258035
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24113549, 28754670, 29138515, 30607635, 31508486, 31528122
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 25301724
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 30413320 Associate
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 26988986
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29753759, 31669383
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23550703 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 20052416
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 21389083 Associate
★☆☆☆☆
Found in Text Mining only