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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 replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]
ATR (ATR Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with ATR include Cutaneous Telangiectasia And Cancer Syndrome, Familial and Seckel Syndrome 1. Among its related pathways are DNA Double-Strand Break Repair and Cellular Senescence (REACTOME). Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding. An important paralog of this gene is PRKDC.
ATM (Ataxia telangiectasia mutated) and ATR (Ataxia telangiectasia and Rad3 related) are closely related kinases that are activated by DNA damage. They are serine-threonine protein kinases which are part of the phosphatidylinositol 3' kinase-like kinase (PIKK) enzyme family.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0004672 | protein kinase activity | TAS,IDA | 14657349 |
GO:0004674 | protein serine/threonine kinase activity | TAS,IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 14657349 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000784 | colocalizes_with nuclear chromosome, telomeric region | IC | 26586433 |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | ISS | -- |
GO:0005794 | Golgi apparatus | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Double-Strand Break Repair |
.53
|
|
2 | Homologous DNA Pairing and Strand Exchange |
.01
|
|
3 | DNA Damage Response | ||
4 | Chks in Checkpoint Regulation |
Chks in Checkpoint Regulation
.59
G2-M Phase Transition
.59
|
DNA Repair Mechanisms
.32
|
5 | Regulation of TP53 Activity |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000077 | DNA damage checkpoint | IDA | 14657349 |
GO:0000723 | telomere maintenance | IBA | 21873635 |
GO:0006260 | DNA replication | TAS | -- |
GO:0006281 | DNA repair | TAS | 8610130 |
GO:0006974 | cellular response to DNA damage stimulus | TAS | 15538388 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Fluoxetine | Approved, Vet_approved | Pharma | Channel blocker, Antagonist, Inhibition, Inhibitor | 267 | ||
rituximab | Approved | Pharma | Therapeutic Antibodies | 2022 | ||
Floxuridine | Approved | Pharma | Antineoplastic antimetabolite, Inhibitor of thymidylate synthetase; anticancer agent, RNA and DNA synthesis inhibitor | 56 | ||
Niraparib | Approved, Investigational | Pharma | inhibitor, Biomarker | PARP inhibitor, PARP Inhibitors | 70 | |
Olaparib | Approved | Pharma | inhibitor, Biomarker, other | PARP inhibitor, PARP Inhibitors, Other, Poly(ADPRIBOSE) polymerase (PARP) inhibitors | 244 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
||
KU 60019 |
|
925701-46-8 |
|
|
Compound | Action | Cas Number |
---|---|---|
AZ20 | ATR inhibitor,potent and selective | 1233339-22-4 |
AZD6738 | ATR inhibitor | 1352226-88-0 |
CGK733 | ATM/ATR inhibitor,potent and selective | 905973-89-9 |
ETP-46464 | ATR inhibitor,potent and selective | 1345675-02-6 |
Floxuridine | Antineoplastic antimetabolite | 50-91-9 |
KU 55933 | ATM inhibitor,potent and selective | 587871-26-9 |
Mirin | 1198097-97-0 | |
Torin 2 | MTOR inhibitor,highly potent and selective | 1223001-51-1 |
VE-821 | ATR kinase inhibitor | 1232410-49-9 |
VE-822 | ATR inhibitor | 1232416-25-9 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: |
ExUns: | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38a | · | 38b | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45a | · | 45b | ^ | 46a | · | 46b | ^ | 47 | ^ | 48a | · | 48b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ATR 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | ATR 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | ATR 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
rat (Rattus norvegicus) |
Mammalia | Atr 32 |
|
||
mouse (Mus musculus) |
Mammalia | Atr 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | ATR 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ATR 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | ATR 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | atr 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Atr 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | atr 33 32 |
|
ManyToMany | |
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5590 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | mei-41 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | atl-1 33 |
|
OneToMany | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MEC1 35 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
ManyToMany | |
Cin.7365 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7365 32 |
|
SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10935466 | likely-benign, uncertain-significance, not specified, Seckel syndrome | 142,562,979(-) | A/G | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
rs112018640 | benign, likely-benign, not specified, Seckel syndrome | 142,496,391(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
rs112116713 | benign, uncertain-significance, not provided, not specified, Seckel syndrome | 142,522,851(-) | AAAAAAAAAAAA/AAAAAAAAAA/AAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA | intron_variant | |
rs112726878 | uncertain-significance, not specified, Seckel syndrome | 142,512,435(-) | G/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
rs113544835 | uncertain-significance, Seckel syndrome 1 | 142,465,093(-) | C/G | genic_downstream_transcript_variant, intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
cutaneous telangiectasia and cancer syndrome, familial |
|
|
seckel syndrome 1 |
|
|
seckel syndrome |
|
|
ataxia-telangiectasia |
|
|
atr-x-related syndrome |
|
|