• Gene id: 545

Gene Summary

• Gene Symbol: ATR   Gene   UCSC   Ensembl
• Aliases: FCTCS, FRP1, MEC1, SCKL, SCKL1
• Gene name: ATR serine/threonine kinase
• Alternate names: serine/threonine-protein kinase ATR, FRAP-related protein-1, MEC1, mitosis entry checkpoint 1, homolog, ataxia telangiectasia and Rad3-related protein,
• Gene location: 3q23 (142578825: 142449234)     Exons: 49     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 601215

SNPs

rs2274911

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116809541G>A
NC_000006.12   g.116809541G>C
NC_000006.11   g.117130704G>A
NC_000006.11   g.117130704G>C
NM_148963.3   c.271C>T
NM_148963.3   c.271C>G
NM_148963.4   c.271C>T
NM_148963.4   c.271C>G
NM_148963.2   c.271C>T
NM_148963.2   c.271C>G
XM_017010475  

rs1056836

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38071060G>C
NC_000002.11   g.38298203C>G
NG_008386.2   g.10042C>G
NM_000104.3   c.1294C>G
NP_000095.2   p.Leu432Val|SEQ=[G/C]|GENE=CYP1B1

rs2855658

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

rs1042838

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101062681C>A
NC_000011.10   g.101062681C>G
NC_000011.9   g.100933412C>A
NC_000011.9   g.100933412C>G
NG_016475.1   g.72133G>T
NG_016475.1   g.72133G>C
NM_000926.4   c.1978G>T
NM_000926.4   c.1978G>C
NM_001202474.3   c.1486G>T
NM_001202474.3   c.1486G>C
  

Protein Summary

• Protein general information: Q13535  
  • Name: Serine/threonine protein kinase ATR (EC 2.7.11.1) (Ataxia telangiectasia and Rad3 related protein) (FRAP related protein 1)
  • Length: 2644  
  • Mass: 301,367
• Sequence:

  MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLDFIQHI
  MKSSPLMFVNVSGSHEAKGSCIEFSNWIITRLLRIAATPSCHLLHKKICEVICSLLFLFKSKSPAIFGVLTKELL
  QLFEDLVYLHRRNVMGHAVEWPVVMSRFLSQLDEHMGYLQSAPLQLMSMQNLEFIEVTLLMVLTRIIAIVFFRRQ
  ELLLWQIGCVLLEYGSPKIKSLAISFLTELFQLGGLPAQPASTFFSSFLELLKHLVEMDTDQLKLYEEPLSKLIK
  TLFPFEAEAYRNIEPVYLNMLLEKLCVMFEDGVLMRLKSDLLKAALCHLLQYFLKFVPAGYESALQVRKVYVRNI
  CKALLDVLGIEVDAEYLLGPLYAALKMESMEIIEEIQCQTQQENLSSNSDGISPKRRRLSSSLNPSKRAPKQTEE
  IKHVDMNQKSILWSALKQKAESLQISLEYSGLKNPVIEMLEGIAVVLQLTALCTVHCSHQNMNCRTFKDCQHKSK
  KKPSVVITWMSLDFYTKVLKSCRSLLESVQKLDLEATIDKVVKIYDALIYMQVNSSFEDHILEDLCGMLSLPWIY
  SHSDDGCLKLTTFAANLLTLSCRISDSYSPQAQSRCVFLLTLFPRRIFLEWRTAVYNWALQSSHEVIRASCVSGF
  FILLQQQNSCNRVPKILIDKVKDDSDIVKKEFASILGQLVCTLHGMFYLTSSLTEPFSEHGHVDLFCRNLKATSQ
  HECSSSQLKASVCKPFLFLLKKKIPSPVKLAFIDNLHHLCKHLDFREDETDVKAVLGTLLNLMEDPDKDVRVAFS
  GNIKHILESLDSEDGFIKELFVLRMKEAYTHAQISRNNELKDTLILTTGDIGRAAKGDLVPFALLHLLHCLLSKS
  ASVSGAAYTEIRALVAAKSVKLQSFFSQYKKPICQFLVESLHSSQMTALPNTPCQNADVRKQDVAHQREMALNTL
  SEIANVFDFPDLNRFLTRTLQVLLPDLAAKASPAASALIRTLGKQLNVNRREILINNFKYIFSHLVCSCSKDELE
  RALHYLKNETEIELGSLLRQDFQGLHNELLLRIGEHYQQVFNGLSILASFASSDDPYQGPRDIISPELMADYLQP
  KLLGILAFFNMQLLSSSVGIEDKKMALNSLMSLMKLMGPKHVSSVRVKMMTTLRTGLRFKDDFPELCCRAWDCFV
  RCLDHACLGSLLSHVIVALLPLIHIQPKETAAIFHYLIIENRDAVQDFLHEIYFLPDHPELKKIKAVLQEYRKET
  SESTDLQTTLQLSMKAIQHENVDVRIHALTSLKETLYKNQEKLIKYATDSETVEPIISQLVTVLLKGCQDANSQA
  RLLCGECLGELGAIDPGRLDFSTTETQGKDFTFVTGVEDSSFAYGLLMELTRAYLAYADNSRAQDSAAYAIQELL
  SIYDCREMETNGPGHQLWRRFPEHVREILEPHLNTRYKSSQKSTDWSGVKKPIYLSKLGSNFAEWSASWAGYLIT
  KVRHDLASKIFTCCSIMMKHDFKVTIYLLPHILVYVLLGCNQEDQQEVYAEIMAVLKHDDQHTINTQDIASDLCQ
  LSTQTVFSMLDHLTQWARHKFQALKAEKCPHSKSNRNKVDSMVSTVDYEDYQSVTRFLDLIPQDTLAVASFRSKA
  YTRAVMHFESFITEKKQNIQEHLGFLQKLYAAMHEPDGVAGVSAIRKAEPSLKEQILEHESLGLLRDATACYDRA
  IQLEPDQIIHYHGVVKSMLGLGQLSTVITQVNGVHANRSEWTDELNTYRVEAAWKLSQWDLVENYLAADGKSTTW
  SVRLGQLLLSAKKRDITAFYDSLKLVRAEQIVPLSAASFERGSYQRGYEYIVRLHMLCELEHSIKPLFQHSPGDS
  SQEDSLNWVARLEMTQNSYRAKEPILALRRALLSLNKRPDYNEMVGECWLQSARVARKAGHHQTAYNALLNAGES
  RLAELYVERAKWLWSKGDVHQALIVLQKGVELCFPENETPPEGKNMLIHGRAMLLVGRFMEETANFESNAIMKKY
  KDVTACLPEWEDGHFYLAKYYDKLMPMVTDNKMEKQGDLIRYIVLHFGRSLQYGNQFIYQSMPRMLTLWLDYGTK
  AYEWEKAGRSDRVQMRNDLGKINKVITEHTNYLAPYQFLTAFSQLISRICHSHDEVFVVLMEIIAKVFLAYPQQA
  MWMMTAVSKSSYPMRVNRCKEILNKAIHMKKSLEKFVGDATRLTDKLLELCNKPVDGSSSTLSMSTHFKMLKKLV
  EEATFSEILIPLQSVMIPTLPSILGTHANHASHEPFPGHWAYIAGFDDMVEILASLQKPKKISLKGSDGKFYIMM
  CKPKDDLRKDCRLMEFNSLINKCLRKDAESRRRELHIRTYAVIPLNDECGIIEWVNNTAGLRPILTKLYKEKGVY
  MTGKELRQCMLPKSAALSEKLKVFREFLLPRHPPIFHEWFLRTFPDPTSWYSSRSAYCRSTAVMSMVGYILGLGD
  RHGENILFDSLTGECVHVDFNCLFNKGETFEVPEIVPFRLTHNMVNGMGPMGTEGLFRRACEVTMRLMRDQREPL
  MSVLKTFLHDPLVEWSKPVKGHSKAPLNETGEVVNEKAKTHVLDIEQRLQGVIKTRNRVTGLPLSIEGHVHYLIQ
  EATDENLLCQMYLGWTPYM

• Structural information:
  • Protein Domains: FAT. (1640-2185)
    PI3K/PI4K. (2322-2567)
    FATC. (2612-2644)
  • Interpro: IPR011989  IPR016024  IPR003152  IPR021133  IPR011009   IPR000403  IPR036940  IPR018936  IPR003151  IPR014009  IPR011990  IPR012993  
  • Prosite: PS51189 PS51190 PS50077 PS00916 PS50290
  • PDB: 5YZ0
  • PDBsum: 5YZ0
  • DIP: 35308
  • STRING: ENSP00000343741
• Other Databases: GeneCards:  ATR  Malacards:  ATR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000077	DNA damage checkpoint	IDA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	TAS	biological process
GO:0007049	cell cycle	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0016605	PML body	IDA	cellular component
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0032212	positive regulation of telomere maintenance via telomerase	ISS	biological process
GO:0032405	MutLalpha complex binding	IDA	molecular function
GO:0032407	MutSalpha complex binding	IDA	molecular function
GO:0034644	cellular response to UV	IMP	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0070198	protein localization to chromosome, telomeric region	IMP	biological process
GO:0071480	cellular response to gamma radiation	IDA	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:0097694	establishment of RNA localization to telomere	IMP	biological process
GO:0097695	establishment of macromolecular complex localization to telomere	IC	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:1904884	positive regulation of telomerase catalytic core complex assembly	IMP	biological process
GO:0000784	nuclear chromosome, telomeric region	IC	cellular component
GO:0000077	DNA damage checkpoint	IDA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	TAS	biological process
GO:0007049	cell cycle	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016605	PML body	IEA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0032212	positive regulation of telomere maintenance via telomerase	ISS	biological process
GO:0032405	MutLalpha complex binding	IDA	molecular function
GO:0032407	MutSalpha complex binding	IDA	molecular function
GO:0034644	cellular response to UV	IMP	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0070198	protein localization to chromosome, telomeric region	IMP	biological process
GO:0071480	cellular response to gamma radiation	IDA	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:0097694	establishment of RNA localization to telomere	IMP	biological process
GO:0097695	establishment of macromolecular complex localization to telomere	IC	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:1904884	positive regulation of telomerase catalytic core complex assembly	IMP	biological process
GO:0000784	nuclear chromosome, telomeric region	IC	cellular component
GO:0000077	DNA damage checkpoint	IDA	biological process
GO:0004672	protein kinase activity	IDA	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	TAS	biological process
GO:0007049	cell cycle	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0016605	PML body	IDA	cellular component
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0032212	positive regulation of telomere maintenance via telomerase	ISS	biological process
GO:0032405	MutLalpha complex binding	IDA	molecular function
GO:0032407	MutSalpha complex binding	IDA	molecular function
GO:0034644	cellular response to UV	IMP	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0070198	protein localization to chromosome, telomeric region	IMP	biological process
GO:0071480	cellular response to gamma radiation	IDA	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:0097694	establishment of RNA localization to telomere	IMP	biological process
GO:0097695	establishment of macromolecular complex localization to telomere	IC	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:1904884	positive regulation of telomerase catalytic core complex assembly	IMP	biological process
GO:0000784	nuclear chromosome, telomeric region	IC	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04110	Cell cycle
hsa04115	p53 signaling pathway
hsa04218	Cellular senescence
hsa05166	Human T-cell leukemia virus 1 infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Cancer (pancreatic)	GAD: 19351817
Cancer (Pancreatic ductal)	GAD: 18381943
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (Endometrial)	GAD: 19470935
Cancer (Adenocarcinoma)	GAD: 19690177
Cancer (esophageal)	GAD: 20453000
Alveolar rhabdomyosarcoma	KEGG: H00037
Cancer (lung)	GAD: 16195237
Cancer	GAD: 19116388
Cancer (leukemia)	GAD: 19074885
Cancer (colon)	GAD: 17879369
Cancer (breast)	GAD: 15987455
Myocardial Infarction	GAD: 11393670
Cardiovascular disease	GAD: 11393670
Cleft defects	GAD: 20634891
Chronic renal failure	GAD: 21085059
Impaired human spermatogenesis	MIK: 20075417
Seckel syndrome	KEGG: H00992
Cutaneous telangiectasia and cancer syndrome	OMIM: 601215
Seckel syndrome	OMIM: 601215
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Impaired human spermatogenesis	MIK: 20075417
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20075417	Impaired human spermatogenesis			28 (13 patients with spermatogenic failure, 5 patients with primary germ cell tumors, 10 controls with conserved spermatogenesis)	Male infertility	MLH1 MLH3 PMS2 MSH4 and MSH5 ATR HSPA2 and SYCP3
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq