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Aliases for ATR Gene

Aliases for ATR Gene

  • ATR Serine/Threonine Kinase 2 3 5
  • Ataxia Telangiectasia And Rad3-Related Protein 3 4
  • EC 2.7.11.1 4 63
  • MEC1 2 3
  • FRP1 3 4
  • MEC1, Mitosis Entry Checkpoint 1, Homolog 3
  • Ataxia Telangiectasia And Rad3 Related 2
  • Mitosis Entry Checkpoint 1 2
  • Homolog (S. Cerevisiae) 2
  • FRAP-Related Protein-1 3
  • FRAP-Related Protein 1 4
  • FCTCS 3
  • SCKL1 3
  • SCKL 3

External Ids for ATR Gene

Previous GeneCards Identifiers for ATR Gene

  • GC03M139200
  • GC03M142996
  • GC03M143449
  • GC03M143488
  • GC03M143650
  • GC03M142168
  • GC03M139541

Summaries for ATR Gene

Entrez Gene Summary for ATR Gene

  • The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATR Gene

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 Gene Expression and Cellular response to heat stress. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding. An important paralog of this gene is PRKDC.

UniProtKB/Swiss-Prot for ATR Gene

  • 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. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates Ser-139 of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication.

Tocris Summary for ATR Gene

  • 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.

Gene Wiki entry for ATR Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATR Gene

Genomics for ATR Gene

Regulatory Elements for ATR Gene

Promoters for ATR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATR on UCSC Golden Path with GeneCards custom track

Genomic Location for ATR Gene

Chromosome:
3
Start:
142,449,235 bp from pter
End:
142,578,826 bp from pter
Size:
129,592 bases
Orientation:
Minus strand

Genomic View for ATR Gene

Genes around ATR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATR Gene

Proteins for ATR Gene

  • Protein details for ATR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13535-ATR_HUMAN
    Recommended name:
    Serine/threonine-protein kinase ATR
    Protein Accession:
    Q13535
    Secondary Accessions:
    • Q59HB2
    • Q7KYL3
    • Q93051
    • Q9BXK4

    Protein attributes for ATR Gene

    Size:
    2644 amino acids
    Molecular mass:
    301367 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with ATRIP (By similarity). Forms a heterodimer with ATRIP. Binds to DNA, and to UV-damaged DNA with higher affinity. Interacts with RAD17, MSH2 and HDAC2. Present in a complex containing ATRIP and RPA-coated single-stranded DNA. Present in a complex containing CHD4 and HDAC2. Interacts with BCR-ABL after genotoxic stress. Interacts with EEF1E1. This interaction is enhanced by UV irradiation. Interacts with CLSPN and CEP164. Interacts with TELO2 and TTI1.

    Alternative splice isoforms for ATR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATR Gene

Proteomics data for ATR Gene at MOPED

Selected DME Specific Peptides for ATR Gene

Post-translational modifications for ATR Gene

  • Phosphorylated; autophosphorylates in vitro.
  • Ubiquitination at Lys 32, Lys 746, Lys 1005, and Lys 2604
  • Modification sites at PhosphoSitePlus

Other Protein References for ATR Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATR (ATR)

Domains & Families for ATR Gene

Gene Families for ATR Gene

Suggested Antigen Peptide Sequences for ATR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13535

UniProtKB/Swiss-Prot:

ATR_HUMAN :
  • Contains 1 FAT domain.
  • Belongs to the PI3/PI4-kinase family. ATM subfamily.
  • Contains 2 HEAT repeats.
Domain:
  • Contains 1 FAT domain.
  • Contains 1 FATC domain.
  • Contains 1 PI3K/PI4K domain.
Family:
  • Belongs to the PI3/PI4-kinase family. ATM subfamily.
Similarity:
  • Contains 2 HEAT repeats.
genes like me logo Genes that share domains with ATR: view

Function for ATR Gene

Molecular function for ATR Gene

GENATLAS Biochemistry:
ataxia telangiectasia and RAD3 related,homologous to cell cycle G2 checkpoint genes Drosophila Mei-41,S cerevisiae Mec1p,S pombe RAD3,mainly expressed in testis and skeletal muscle,required for meiosisprophase I (associated with synaptomenal complex in RAD51 and RPA sites)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by DNA and inhibited by BCR-ABL oncogene. Slightly activated by ATRIP. Inhibited by caffeine, wortmannin and LY294002.
UniProtKB/Swiss-Prot 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. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates Ser-139 of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication.

Enzyme Numbers (IUBMB) for ATR Gene

Gene Ontology (GO) - Molecular Function for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with ATR: view

Phenotypes for ATR Gene

MGI mutant phenotypes for ATR:
inferred from 8 alleles
GenomeRNAi human phenotypes for ATR:
genes like me logo Genes that share phenotypes with ATR: view

Human Phenotype Ontology for ATR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATR Gene

MGI Knock Outs for ATR:

Animal Model Products

miRNA for ATR Gene

No data available for Transcription Factor Targets and HOMER Transcription for ATR Gene

Localization for ATR Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATR Gene

Nucleus. Nucleus, PML body. Chromosome. Note=Depending on the cell type, it can also be found in PML nuclear bodies. Recruited to chromatin during S-phase. Redistributes to discrete nuclear foci upon DNA damage, hypoxia or replication fork stalling.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATR Gene COMPARTMENTS Subcellular localization image for ATR gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 3
plasma membrane 3
cytoskeleton 2
extracellular 2
endoplasmic reticulum 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016605 PML body IDA 12814551
genes like me logo Genes that share ontologies with ATR: view

Pathways & Interactions for ATR Gene

genes like me logo Genes that share pathways with ATR: view

SIGNOR curated interactions for ATR Gene

Gene Ontology (GO) - Biological Process for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IDA 14657349
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0006260 DNA replication TAS --
GO:0006974 cellular response to DNA damage stimulus TAS 15538388
GO:0007275 multicellular organism development TAS 9590286
genes like me logo Genes that share ontologies with ATR: view

Drugs & Compounds for ATR Gene

(39) Drugs for ATR Gene - From: Novoseek, DGIdb, HMDB, ApexBio, Tocris, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluoxetine Approved Pharma Channel blocker 229
Floxuridine Approved Pharma Antineoplastic antimetabolite, RNA and DNA synthesis inhibitor 47
Olaparib Approved Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other, Poly(ADPRIBOSE) polymerase (PARP) inhibitors 104
Adenosine triphosphate Approved Nutra 0
AZ20 Pharma ATR inhibitor,potent and selective, Potent and selective ATR kinase inhibitor; antitumor 0

(9) Additional Compounds for ATR Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
KU 60019
925701-46-8
Mirin
1198097-97-0

(4) Tocris Compounds for ATR Gene

Compound Action Cas Number
AZ 20 Potent and selective ATR kinase inhibitor; antitumor 1233339-22-4
KU 55933 Potent and selective ATM kinase inhibitor 587871-26-9
KU 60019 Potent ATM kinase inhibitor 925701-46-8
Mirin MRN-ATM pathway inhibitor 1198097-97-0

(7) ApexBio Compounds for ATR Gene

Compound Action Cas Number
AZ20 ATR inhibitor,potent and selective 1233339-22-4
CGK733 ATM/ATR inhibitor,potent and selective 905973-89-9
Floxuridine Antineoplastic antimetabolite 50-91-9
KU 55933 ATM inhibitor,potent and selective 587871-26-9
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
genes like me logo Genes that share compounds with ATR: view

Transcripts for ATR Gene

Unigene Clusters for ATR Gene

Ataxia telangiectasia and Rad3 related:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATR Gene

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: -

Relevant External Links for ATR Gene

GeneLoc Exon Structure for
ATR
ECgene alternative splicing isoforms for
ATR

Expression for ATR Gene

mRNA expression in normal human tissues for ATR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATR Gene

This gene is overexpressed in Serum (24.7), Liver, secretome (11.1), Testis (10.1), and Monocytes (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATR Gene



SOURCE GeneReport for Unigene cluster for ATR Gene Hs.271791

mRNA Expression by UniProt/SwissProt for ATR Gene

Q13535-ATR_HUMAN
Tissue specificity: Ubiquitous, with highest expression in testis. Isoform 2 is found in pancreas, placenta and liver but not in heart, testis and ovary.
genes like me logo Genes that share expression patterns with ATR: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ATR Gene

Orthologs for ATR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATR 35
  • 92.15 (n)
  • 93.87 (a)
ATR 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATR 35
  • 92.98 (n)
  • 95.04 (a)
ATR 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATR 35
  • 99.65 (n)
  • 99.54 (a)
ATR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atr 35
  • 89.02 (n)
  • 91.15 (a)
mouse
(Mus musculus)
Mammalia Atr 16
Atr 36
  • 91 (a)
OneToOne
Atr 35
  • 88.63 (n)
  • 90.67 (a)
oppossum
(Monodelphis domestica)
Mammalia ATR 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
-- 36
  • 44 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATR 35
  • 75.3 (n)
  • 78.28 (a)
ATR 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATR 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atr 35
  • 69.27 (n)
  • 72.11 (a)
African clawed frog
(Xenopus laevis)
Amphibia Atr 35
zebrafish
(Danio rerio)
Actinopterygii atr 35
  • 63.51 (n)
  • 66.26 (a)
atr 36
  • 65 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5590 35
fruit fly
(Drosophila melanogaster)
Insecta mei-41 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atl-1 36
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEC1 36
  • 24 (a)
OneToMany
MEC1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7365 35
Species with no ortholog for ATR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATR Gene

ENSEMBL:
Gene Tree for ATR (if available)
TreeFam:
Gene Tree for ATR (if available)

Paralogs for ATR Gene

Paralogs for ATR Gene

(3) SIMAP similar genes for ATR Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ATR: view

Variants for ATR Gene

Sequence variations from dbSNP and Humsavar for ATR Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs35306038 - 142,566,223(+) GGAGG(C/T)TGGCT nc-transcript-variant, reference, missense
rs28897763 - 142,566,145(-) GAAGC(C/T)ATGAG nc-transcript-variant, reference, missense
rs2229033 - 142,562,511(-) TCAAA(A/C/G)CTGAT nc-transcript-variant, reference, missense
rs28897764 - 142,562,456(-) AACCT(A/G)TCTAT nc-transcript-variant, reference, missense
rs28910271 - 142,550,233(-) CTGAC(A/C/G)TGCGA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ATR Gene

Variant ID Type Subtype PubMed ID
nsv877556 CNV Loss 21882294
nsv523945 CNV Gain 19592680
dgv5266n71 CNV Loss 21882294
nsv528954 CNV Loss 19592680
dgv827n67 CNV Loss 20364138

Variation tolerance for ATR Gene

Residual Variation Intolerance Score: 2.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.66; 72.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATR Gene

HapMap Linkage Disequilibrium report
ATR
Human Gene Mutation Database (HGMD)
ATR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATR Gene

Disorders for ATR Gene

MalaCards: The human disease database

(20) MalaCards diseases for ATR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cutaneous telangiectasia and cancer syndrome, familial
  • familial cutaneous telangiectasia and cancer syndrome
seckel syndrome 1
  • seckel syndrome
gapo syndrome
  • growth retardation, alopecia, pseudoanodontia and optic atrophy
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
seckel syndrome
  • bird-headed dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search ATR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATR_HUMAN
  • Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564]: A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. {ECO:0000269 PubMed:22341969}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seckel syndrome 1 (SCKL1) [MIM:210600]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:12640452}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATR

Genetic Association Database (GAD)
ATR
Human Genome Epidemiology (HuGE) Navigator
ATR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATR
genes like me logo Genes that share disorders with ATR: view

No data available for Genatlas for ATR Gene

Publications for ATR Gene

  1. cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein. (PMID: 8610130) Cimprich K.A. … Schreiber S.L. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 23 67
  2. Functional significance for a heterogenous ribonucleoprotein A18 signature RNA motif in the 3'-untranslated region of ataxia telangiectasia mutated and Rad3-related (ATR) transcript. (PMID: 20103595) Yang R. … Carrier F. (J. Biol. Chem. 2010) 3 23
  3. Interactions of human mismatch repair proteins MutSalpha and MutLalpha with proteins of the ATR-Chk1 pathway. (PMID: 20029092) Liu Y. … Modrich P. (J. Biol. Chem. 2010) 3 23
  4. ATR preferentially interacts with common fragile site FRA3B and the binding requires its kinase activity in response to aphidicolin treatment. (PMID: 20060399) Wan C. … Wang Y.H. (Mutat. Res. 2010) 3 23
  5. ATR and Chk1 suppress a caspase-3-dependent apoptotic response following DNA replication stress. (PMID: 19119425) Myers K. … Meuth M. (PLoS Genet. 2009) 3 23

Products for ATR Gene

Sources for ATR Gene

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