CHEK1 (checkpoint kinase 1)

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CHEK1 (checkpoint kinase 1)

Identity

Alias (NCBI)	CHK1
HGNC (Hugo)	CHEK1
HGNC Alias symb	CHK1
HGNC Previous name	CHK1 (checkpoint, S.pombe) homolog
	CHK1 checkpoint homolog (S. pombe)
LocusID (NCBI)	1111
Atlas_Id	210
Location	11q24.2 [Link to chromosome band 11q24]
Location_base_pair	Starts at 125626224 and ends at 125657154 bp from pter ( according to hg38-Dec_2013)

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

	CHEK1 (11q24.2) / DCAF8 (1q23.2)	CHEK1 (11q24.2) / EXOC6 (10q23.33)	TMEM135 (11q14.2) / CHEK1 (11q24.2)
	CHEK1 11q24.2 / EXOC6 10q23.33	TMEM135 11q14.2 / CHEK1 11q24.2

Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute

DNA/RNA

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]

t(10;11)(q23;q24) CHEK1/EXOC6
t(11;11)(q14;q24) TMEM135/CHEK1

External links

	Nomenclature
HGNC (Hugo)	CHEK1 1925
	Cards
Entrez_Gene (NCBI)	CHEK1 1111 checkpoint kinase 1
Aliases	CHK1
GeneCards (Weizmann)	CHEK1
Ensembl hg19 (Hinxton)	ENSG00000149554 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000149554 [Gene_View] ENSG00000149554 [Sequence] chr11:125626224-125657154 [Contig_View] CHEK1 [Vega]
ICGC DataPortal	ENSG00000149554
TCGA cBioPortal	CHEK1
AceView (NCBI)	CHEK1
Genatlas (Paris)	CHEK1
WikiGenes	1111
SOURCE (Princeton)	CHEK1
Genetics Home Reference (NIH)	CHEK1
	Genomic and cartography
GoldenPath hg38 (UCSC)	CHEK1 - chr11:125626224-125657154 + 11q24.2 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	CHEK1 - 11q24.2 [Description] (hg19-Feb_2009)
GoldenPath	CHEK1 - 11q24.2 [CytoView hg19] CHEK1 - 11q24.2 [CytoView hg38]
ImmunoBase	ENSG00000149554
genome Data Viewer NCBI	CHEK1 [Mapview hg19]
OMIM	603078
	Gene and transcription
Genbank (Entrez)	AA224205 AB451222 AB451345 AF016582 AF032874
RefSeq transcript (Entrez)	NM_001114121 NM_001114122 NM_001244846 NM_001274 NM_001330427 NM_001330428
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	CHEK1
Alternative Splicing Gallery	ENSG00000149554
Gene Expression	CHEK1 [ NCBI-GEO ] CHEK1 [ EBI - ARRAY_EXPRESS ] CHEK1 [ SEEK ] CHEK1 [ MEM ]
Gene Expression Viewer (FireBrowse)	CHEK1 [ Firebrowse - Broad ]
Genevisible	Expression of CHEK1 in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	1111
GTEX Portal (Tissue expression)	CHEK1
Human Protein Atlas	ENSG00000149554-CHEK1 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	O14757 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	O14757 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	O14757
Splice isoforms : SwissVar	O14757
Catalytic activity : Enzyme	2.7.11.1 [ Enzyme-Expasy ] 2.7.11.1 2.7.11.1 [ IntEnz-EBI ] 2.7.11.1 [ BRENDA ] 2.7.11.1 [ KEGG ] [ MEROPS ]
PhosPhoSitePlus	O14757
Domaine pattern : Prosite (Expaxy)	PROTEIN_KINASE_ATP (PS00107) PROTEIN_KINASE_DOM (PS50011) PROTEIN_KINASE_ST (PS00108)
Domains : Interpro (EBI)	Chk1_catalytic_dom Kinase-like_dom_sf Prot_kinase_dom Protein_kinase_ATP_BS Ser/Thr_kinase_AS
Domain families : Pfam (Sanger)	Pkinase (PF00069)
Domain families : Pfam (NCBI)	pfam00069
Domain families : Smart (EMBL)	S_TKc (SM00220)
Conserved Domain (NCBI)	CHEK1
DMDM Disease mutations	1111
Blocks (Seattle)	CHEK1
PDB (RSDB)	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 2YDK 2YER 2YEX 2YM3 2YM4 2YM5 2YM6 2YM7 2YM8 2YWP 3F9N 3JVR 3JVS 3NLB 3OT3 3OT8 3PA3 3PA4 3PA5 3TKH 3TKI 3U9N 4FSM 4FSN 4FSQ 4FSR 4FST 4FSU 4FSW 4FSY 4FSZ 4FT0 4FT3 4FT5 4FT7 4FT9 4FTA 4FTC 4FTI 4FTJ 4FTK 4FTL 4FTM 4FTN 4FTO 4FTQ 4FTR 4FTT 4FTU 4GH2 4HYH 4HYI 4JIK 4QYE 4QYF 4QYG 4QYH 4RVK 4RVL 4RVM 5DLS 5F4N 5OOP 5OOR 5OOT 5OP2 5OP4 5OP5 5OP7 5OPB 5OPR 5OPS 5OPU 5OPV 5OQ5 5OQ6 5OQ7 5OQ8 5WI2 6FC8 6FCF 6FCK
PDB Europe	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 2YDK 2YER 2YEX 2YM3 2YM4 2YM5 2YM6 2YM7 2YM8 2YWP 3F9N 3JVR 3JVS 3NLB 3OT3 3OT8 3PA3 3PA4 3PA5 3TKH 3TKI 3U9N 4FSM 4FSN 4FSQ 4FSR 4FST 4FSU 4FSW 4FSY 4FSZ 4FT0 4FT3 4FT5 4FT7 4FT9 4FTA 4FTC 4FTI 4FTJ 4FTK 4FTL 4FTM 4FTN 4FTO 4FTQ 4FTR 4FTT 4FTU 4GH2 4HYH 4HYI 4JIK 4QYE 4QYF 4QYG 4QYH 4RVK 4RVL 4RVM 5DLS 5F4N 5OOP 5OOR 5OOT 5OP2 5OP4 5OP5 5OP7 5OPB 5OPR 5OPS 5OPU 5OPV 5OQ5 5OQ6 5OQ7 5OQ8 5WI2 6FC8 6FCF 6FCK
PDB (PDBSum)	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 2YDK 2YER 2YEX 2YM3 2YM4 2YM5 2YM6 2YM7 2YM8 2YWP 3F9N 3JVR 3JVS 3NLB 3OT3 3OT8 3PA3 3PA4 3PA5 3TKH 3TKI 3U9N 4FSM 4FSN 4FSQ 4FSR 4FST 4FSU 4FSW 4FSY 4FSZ 4FT0 4FT3 4FT5 4FT7 4FT9 4FTA 4FTC 4FTI 4FTJ 4FTK 4FTL 4FTM 4FTN 4FTO 4FTQ 4FTR 4FTT 4FTU 4GH2 4HYH 4HYI 4JIK 4QYE 4QYF 4QYG 4QYH 4RVK 4RVL 4RVM 5DLS 5F4N 5OOP 5OOR 5OOT 5OP2 5OP4 5OP5 5OP7 5OPB 5OPR 5OPS 5OPU 5OPV 5OQ5 5OQ6 5OQ7 5OQ8 5WI2 6FC8 6FCF 6FCK
PDB (IMB)	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 2YDK 2YER 2YEX 2YM3 2YM4 2YM5 2YM6 2YM7 2YM8 2YWP 3F9N 3JVR 3JVS 3NLB 3OT3 3OT8 3PA3 3PA4 3PA5 3TKH 3TKI 3U9N 4FSM 4FSN 4FSQ 4FSR 4FST 4FSU 4FSW 4FSY 4FSZ 4FT0 4FT3 4FT5 4FT7 4FT9 4FTA 4FTC 4FTI 4FTJ 4FTK 4FTL 4FTM 4FTN 4FTO 4FTQ 4FTR 4FTT 4FTU 4GH2 4HYH 4HYI 4JIK 4QYE 4QYF 4QYG 4QYH 4RVK 4RVL 4RVM 5DLS 5F4N 5OOP 5OOR 5OOT 5OP2 5OP4 5OP5 5OP7 5OPB 5OPR 5OPS 5OPU 5OPV 5OQ5 5OQ6 5OQ7 5OQ8 5WI2 6FC8 6FCF 6FCK
Structural Biology KnowledgeBase	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 2YDK 2YER 2YEX 2YM3 2YM4 2YM5 2YM6 2YM7 2YM8 2YWP 3F9N 3JVR 3JVS 3NLB 3OT3 3OT8 3PA3 3PA4 3PA5 3TKH 3TKI 3U9N 4FSM 4FSN 4FSQ 4FSR 4FST 4FSU 4FSW 4FSY 4FSZ 4FT0 4FT3 4FT5 4FT7 4FT9 4FTA 4FTC 4FTI 4FTJ 4FTK 4FTL 4FTM 4FTN 4FTO 4FTQ 4FTR 4FTT 4FTU 4GH2 4HYH 4HYI 4JIK 4QYE 4QYF 4QYG 4QYH 4RVK 4RVL 4RVM 5DLS 5F4N 5OOP 5OOR 5OOT 5OP2 5OP4 5OP5 5OP7 5OPB 5OPR 5OPS 5OPU 5OPV 5OQ5 5OQ6 5OQ7 5OQ8 5WI2 6FC8 6FCF 6FCK
SCOP (Structural Classification of Proteins)	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 2YDK 2YER 2YEX 2YM3 2YM4 2YM5 2YM6 2YM7 2YM8 2YWP 3F9N 3JVR 3JVS 3NLB 3OT3 3OT8 3PA3 3PA4 3PA5 3TKH 3TKI 3U9N 4FSM 4FSN 4FSQ 4FSR 4FST 4FSU 4FSW 4FSY 4FSZ 4FT0 4FT3 4FT5 4FT7 4FT9 4FTA 4FTC 4FTI 4FTJ 4FTK 4FTL 4FTM 4FTN 4FTO 4FTQ 4FTR 4FTT 4FTU 4GH2 4HYH 4HYI 4JIK 4QYE 4QYF 4QYG 4QYH 4RVK 4RVL 4RVM 5DLS 5F4N 5OOP 5OOR 5OOT 5OP2 5OP4 5OP5 5OP7 5OPB 5OPR 5OPS 5OPU 5OPV 5OQ5 5OQ6 5OQ7 5OQ8 5WI2 6FC8 6FCF 6FCK
CATH (Classification of proteins structures)	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 2YDK 2YER 2YEX 2YM3 2YM4 2YM5 2YM6 2YM7 2YM8 2YWP 3F9N 3JVR 3JVS 3NLB 3OT3 3OT8 3PA3 3PA4 3PA5 3TKH 3TKI 3U9N 4FSM 4FSN 4FSQ 4FSR 4FST 4FSU 4FSW 4FSY 4FSZ 4FT0 4FT3 4FT5 4FT7 4FT9 4FTA 4FTC 4FTI 4FTJ 4FTK 4FTL 4FTM 4FTN 4FTO 4FTQ 4FTR 4FTT 4FTU 4GH2 4HYH 4HYI 4JIK 4QYE 4QYF 4QYG 4QYH 4RVK 4RVL 4RVM 5DLS 5F4N 5OOP 5OOR 5OOT 5OP2 5OP4 5OP5 5OP7 5OPB 5OPR 5OPS 5OPU 5OPV 5OQ5 5OQ6 5OQ7 5OQ8 5WI2 6FC8 6FCF 6FCK
Superfamily	O14757
Human Protein Atlas [tissue]	ENSG00000149554-CHEK1 [tissue]
Peptide Atlas	O14757
HPRD	04356
IPI	IPI00023664 IPI00973081 IPI01008883 IPI00909845 IPI00978454 IPI00981751 IPI00984333 IPI00983124 IPI00974222
	Protein Interaction databases
DIP (DOE-UCLA)	O14757
IntAct (EBI)	O14757
FunCoup	ENSG00000149554
BioGRID	CHEK1
STRING (EMBL)	CHEK1
ZODIAC	CHEK1
	Ontologies - Pathways
QuickGO	O14757
Ontology : AmiGO	DNA damage checkpoint DNA damage checkpoint chromosome, telomeric region chromatin condensed nuclear chromosome protein kinase activity protein serine/threonine kinase activity protein serine/threonine kinase activity protein serine/threonine kinase activity protein binding ATP binding extracellular space nucleus nucleus nucleoplasm nucleoplasm cytoplasm cytoplasm centrosome cytosol DNA replication DNA repair protein phosphorylation apoptotic process cellular response to DNA damage stimulus DNA damage induced protein phosphorylation cell cycle regulation of double-strand break repair via homologous recombination regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage kinase activity peptidyl-threonine phosphorylation protein domain specific binding protein-containing complex histone kinase activity (H3-T11 specific) histone H3-T11 phosphorylation intracellular signal transduction intracellular membrane-bounded organelle positive regulation of cell cycle negative regulation of mitotic nuclear division regulation of mitotic centrosome separation chromatin-mediated maintenance of transcription negative regulation of G0 to G1 transition cellular response to mechanical stimulus signal transduction involved in G2 DNA damage checkpoint replicative senescence regulation of signal transduction by p53 class mediator regulation of histone H3-K9 acetylation
Ontology : EGO-EBI	DNA damage checkpoint DNA damage checkpoint chromosome, telomeric region chromatin condensed nuclear chromosome protein kinase activity protein serine/threonine kinase activity protein serine/threonine kinase activity protein serine/threonine kinase activity protein binding ATP binding extracellular space nucleus nucleus nucleoplasm nucleoplasm cytoplasm cytoplasm centrosome cytosol DNA replication DNA repair protein phosphorylation apoptotic process cellular response to DNA damage stimulus DNA damage induced protein phosphorylation cell cycle regulation of double-strand break repair via homologous recombination regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage kinase activity peptidyl-threonine phosphorylation protein domain specific binding protein-containing complex histone kinase activity (H3-T11 specific) histone H3-T11 phosphorylation intracellular signal transduction intracellular membrane-bounded organelle positive regulation of cell cycle negative regulation of mitotic nuclear division regulation of mitotic centrosome separation chromatin-mediated maintenance of transcription negative regulation of G0 to G1 transition cellular response to mechanical stimulus signal transduction involved in G2 DNA damage checkpoint replicative senescence regulation of signal transduction by p53 class mediator regulation of histone H3-K9 acetylation
Pathways : KEGG	Cell cycle p53 signaling pathway HTLV-I infection Viral carcinogenesis
NDEx Network	CHEK1
Atlas of Cancer Signalling Network	CHEK1
Wikipedia pathways	CHEK1
	Orthology - Evolution
OrthoDB	1111
GeneTree (enSembl)	ENSG00000149554
Phylogenetic Trees/Animal Genes : TreeFam	CHEK1
HOGENOM	O14757
Homologs : HomoloGene	CHEK1
Homology/Alignments : Family Browser (UCSC)	CHEK1
	Gene fusions - Rearrangements
Fusion : Mitelman	CHEK1/EXOC6 [11q24.2/10q23.33]
Fusion : Mitelman	TMEM135/CHEK1 [11q14.2/11q24.2]
Fusion Portal	CHEK1 11q24.2 EXOC6 10q23.33 OV
Fusion Portal	TMEM135 11q14.2 CHEK1 11q24.2 BRCA
Fusion : Quiver	CHEK1
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	CHEK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	CHEK1
dbVar	CHEK1
ClinVar	CHEK1
Monarch	CHEK1
1000_Genomes	CHEK1
Exome Variant Server	CHEK1
GNOMAD Browser	ENSG00000149554
Varsome Browser	CHEK1
Genetic variants : HAPMAP	1111
Genomic Variants (DGV)	CHEK1 [DGVbeta]
DECIPHER	CHEK1 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	CHEK1
	Mutations
ICGC Data Portal	CHEK1
TCGA Data Portal	CHEK1
Broad Tumor Portal	CHEK1
OASIS Portal	CHEK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	CHEK1 [overview] [genome browser] [tissue] [distribution]
Somatic Mutations in Cancer : COSMIC3D	CHEK1
Mutations and Diseases : HGMD	CHEK1
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
BioMuta	search CHEK1
DgiDB (Drug Gene Interaction Database)	CHEK1
DoCM (Curated mutations)	CHEK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	CHEK1 (select a term)
intoGen	CHEK1
Cancer3D	CHEK1(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	603078
Orphanet
DisGeNET	CHEK1
Medgen	CHEK1
Genetic Testing Registry	CHEK1
NextProt	O14757 [Medical]
TSGene	1111
GENETests	CHEK1
Target Validation	CHEK1
Huge Navigator	CHEK1 [HugePedia]
snp3D : Map Gene to Disease	1111
BioCentury BCIQ	CHEK1
ClinGen	CHEK1
	Clinical trials, drugs, therapy
Protein Interactions : CTD	1111
Pharm GKB Gene	PA110
Pharm GKB Pathways	PA166115250
Clinical trial	CHEK1
	Miscellaneous
canSAR (ICR)	CHEK1 (select the gene name)
Harmonizome	CHEK1
DataMed Index	CHEK1
	Probes
	Litterature
PubMed	499 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	CHEK1
EVEX	CHEK1
GoPubMed	CHEK1

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Mon Sep 14 14:05:56 CEST 2020

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Atlas of Genetics and Cytogenetics in Oncology and Haematology

CHEK1 (checkpoint kinase 1)

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to How to contribute