ATR (ATR checkpoint kinase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 545
Gene name ATR checkpoint kinase
Gene symbol ATR
Synonyms (NCBI Gene)
FCTCSFRP1MEC1SCKLSCKL1
Chromosome 3
Chromosome location 3q23
Summary The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replicat
SNPs SNP information provided by dbSNP.
17
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
SNP ID Visualize variation Clinical significance Consequence
rs28910273 A>C Likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs77208665 T>C Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant
rs141783863 A>G Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Missense variant, non coding transcript variant, coding sequence variant
rs147895945 A>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, non coding transcript variant
rs150008448 T>C Risk-factor, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
miRTarBase ID miRNA Experiments Reference
MIRT051394 hsa-let-7f-5p CLASH 23622248
MIRT053599 hsa-miR-185-5p FlowMicroarrayqRT-PCRWestern blot 23807228
MIRT053599 hsa-miR-185-5p FlowMicroarrayqRT-PCRWestern blot 23807228
MIRT441143 hsa-miR-218-5p HITS-CLIP 23212916
MIRT441143 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (74)
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IBA
GO:0000077 Process DNA damage checkpoint signaling IDA 14657349, 21705319, 21777809
GO:0000077 Process DNA damage checkpoint signaling IEA
GO:0000086 Process G2/M transition of mitotic cell cycle IDA 19160488, 30139873
GO:0000166 Function Nucleotide binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601215 882 ENSG00000175054
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13535
Protein name Serine/threonine-protein kinase ATR (EC 2.7.11.1) (Ataxia telangiectasia and Rad3-related protein) (FRAP-related protein 1)
Protein function Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor (PubMed:10597277, PubMed:106
PDB 5YZ0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08064 UME 1122 → 1223 UME (NUC010) domain Domain
PF02259 FAT 1771 → 2092 FAT domain Family
PF00454 PI3_PI4_kinase 2322 → 2567 Phosphatidylinositol 3- and 4-kinase Family
PF02260 FATC 2613 → 2644 FATC domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, with highest expression in testis. {ECO:0000269|PubMed:11470508, ECO:0000269|PubMed:8610130, ECO:0000269|PubMed:8843195}.; TISSUE SPECIFICITY: [Isoform 2]: Isoform 2 is found in pancreas, placenta and liver but not in heart
Sequence 
MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTD
SQPTSVMLLDFIQHIMKSSPLMFVNVSGSHEAKGSCIEFSNWIITRLLRIAATPSCHLLH
KKICEVICSLLFLFKSKSPAIFGVLTKELLQLFEDLVYLHRRNVMGHAVEWPVVMSRFLS
QLDEHMGYLQSAPLQLMSMQNLEFIEVTLLMVLTRIIAIVFFRRQELLLWQIGCVLLEYG
SPKIKSLAISFLTELFQLGGLPAQPASTFFSSFLELLKHLVEMDTDQLKLYEEPLSKLIK
TLFPFEAEAYRNIEPVYLNMLLEKLCVMFEDGVLMRLKSDLLKAALCHLLQYFLKFVPAG
YESALQVRKVYVRNICKALLDVLGIEVDAEYLLGPLYAALKMESMEIIEEIQCQTQQENL
SSNSDGISPKRRRLSSSLNPSKRAPKQTEEIKHVDMNQKSILWSALKQKAESLQISLEYS
GLKNPVIEMLEGIAVVLQLTALCTVHCSHQNMNCRTFKDCQHKSKKKPSVVITWMSLDFY
TKVLKSCRSLLESVQKLDLEATIDKVVKIYDALIYMQVNSSFEDHILEDLCGMLSLPWIY
SHSDDGCLKLTTFAANLLTLSCRISDSYSPQAQSRCVFLLTLFPRRIFLEWRTAVYNWAL
QSSHEVIRASCVSGFFILLQQQNSCNRVPKILIDKVKDDSDIVKKEFASILGQLVCTLHG
MFYLTSSLTEPFSEHGHVDLFCRNLKATSQHECSSSQLKASVCKPFLFLLKKKIPSPVKL
AFIDNLHHLCKHLDFREDETDVKAVLGTLLNLMEDPDKDVRVAFSGNIKHILESLDSEDG
FIKELFVLRMKEAYTHAQISRNNELKDTLILTTGDIGRAAKGDLVPFALLHLLHCLLSKS
ASVSGAAYTEIRALVAAKSVKLQSFFSQYKKPICQFLVESLHSSQMTALPNTPCQNADVR
KQDVAHQREMALNTLSEIANVFDFPDLNRFLTRTLQVLLPDLAAKASPAASALIRTLGKQ
LNVNRREILINNFKYIFSHLVCSCSKDELERALHYLKNETEIELGSLLRQDFQGLHNELL
LRIGEHYQQVFNGLSILASFASSDDPYQGPRDIISPELMADYLQPKLLGILAFFNMQLLS
SSVGIEDKKMALNSLMSLMKLMGPKHVSSVRVKMMTTLRTGLRFKDDFPELCCRAWDCFV
RCLDHACLGSLLSHVIVALLPLIHIQPKETAAIFHYLIIENRDAVQDFLHEIYFLPDHPE
LKKIKAVLQEYRKETSESTDLQTTLQLSMKAIQHENVDVRIHALTSLKETLYKNQEKLIK
YATDSETVEPIISQLVTVLLKGCQDANSQARLLCGECLGELGAIDPGRLDFSTTETQGKD
FTFVTGVEDSSFAYGLLMELTRAYLAYADNSRAQDSAAYAIQELLSIYDCREMETNGPGH
QLWRRFPEHVREILEPHLNTRYKSSQKSTDWSGVKKPIYLSKLGSNFAEWSASWAGYLIT
KVRHDLASKIFTCCSIMMKHDFKVTIYLLPHILVYVLLGCNQEDQQEVYAEIMAVLKHDD
QHTINTQDIASDLCQLSTQTVFSMLDHLTQWARHKFQALKAEKCPHSKSNRNKVDSMVST
VDYEDYQSVTRFLDLIPQDTLAVASFRSKAYTRAVMHFESFITEKKQNIQEHLGFLQKLY
AAMHEPDGVAGVSAIRKAEPSLKEQILEHESLGLLRDATACYDRAIQLEPDQIIHYHGVV
KSMLGLGQLSTVITQVNGVHANRSEWTDELNTYRVEAAWKLSQWDLVENYLAADGKSTTW
SVRLGQLLLSAKKRDITAFYDSLKLVRAEQIVPLSAASFERGSYQRGYEYIVRLHMLCEL
EHSIKPLFQHSPGDSSQEDSLNWVARLEMTQNSYRAKEPILALRRALLSLNKRPDYNEMV
GECWLQSARVARKAGHHQTAYNALLNAGESRLAELYVERAKWLWSKGDVHQALIVLQKGV
ELCFPENETPPEGKNMLIHGRAMLLVGRFMEETANFESNAIMKKYKDVTACLPEWEDGHF
YLAKYYDKLMPMVTDNKMEKQGDLIRYIVLHFGRSLQYGNQFIYQSMPRMLTLWLDYGTK
AYEWEKAGRSDRVQMRNDLGKINKVITEHTNYLAPYQFLTAFSQLISRICHSHDEVFVVL
MEIIAKVFLAYPQQAMWMMTAVSKSSYPMRVNRCKEILNKAIHMKKSLEKFVGDATRLTD
KLLELCNKPVDGSSSTLSMSTHFKMLKKLVEEATFSEILIPLQSVMIPTLPSILGTHANH
ASHEPFPGHWAYIAGFDDMVEILASLQKPKKISLKGSDGKFYIMMCKPKDDLRKDCRLME
FNSLINKCLRKDAESRRRELHIRTYAVIPLNDECGIIEWVNNTAGLRPILTKLYKEKGVY
MTGKELRQCMLPKSAALSEKLKVFREFLLPRHPPIFHEWFLRTFPDPTSWYSSRSAYCRS
TAVMSMVGYILGLGDRHGENILFDSLTGECVHVDFNCLFNKGETFEVPEIVPFRLTHNMV
NGMGPMGTEGLFRRACEVTMRLMRDQREPLMSVLKTFLHDPLVEWSKPVKGHSKAPLNET
GEVVNEKAKTHVLDIEQRLQGVIKTRNRVTGLPLSIEGHVHYLIQEATDENLLCQMYLGW
TPYM
Sequence length 2644
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Fanconi anemia pathway
Cell cycle
p53 signaling pathway
Cellular senescence
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Human immunodeficiency virus 1 infection 		  Activation of ATR in response to replication stress
Regulation of HSF1-mediated heat shock response
HDR through Single Strand Annealing (SSA)
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Fanconi Anemia Pathway
TP53 Regulates Transcription of DNA Repair Genes
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1101
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATR-related disorder Likely pathogenic; Pathogenic rs587777852 RCV004751286
Cornelia de Lange syndrome 1 Likely pathogenic; Pathogenic rs1553760567 RCV005860090
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Likely pathogenic; Pathogenic rs778813551, rs757500301 RCV005025342
RCV005027480
RCV005036463
Hereditary cancer-predisposing syndrome Likely pathogenic; Pathogenic rs778813551 RCV000210088
Show/Hide Unknown Diseases (28)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs75131857, rs28910272, rs150964938 RCV005916892
RCV005887042
RCV005896604
Adrenocortical carcinoma, hereditary Benign rs28910272 RCV005887044
ATR-X-related syndrome Uncertain significance rs770645649 RCV000714838
Cervical cancer Likely benign; Benign rs113407801, rs565577588, rs28910272, rs55894265 RCV005917755
RCV005919109
RCV005887045
RCV005887053
Show/Hide Text Mining Associations (144)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 37468905
Adenocarcinoma of Lung Associate 37762228
Alternating hemiplegia of childhood Associate 26891131
Amyotrophic Lateral Sclerosis Associate 31575382
Arrest of spermatogenesis Associate 37867192
Ataxia Telangiectasia Associate 10367890, 12576328, 15210935, 15309689, 16014567, 16306615, 16862173, 18025301, 19372558, 19444312, 19584262, 21399625, 21956112, 22948311, 23897887
View all (22 more)
Atherosclerosis Associate 27740938
ATR X syndrome Associate 26891131
Autosomal Recessive Primary Microcephaly Associate 17564965, 18664457, 28464862
Biliary Tract Neoplasms Associate 29360550