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Aliases for ATR Gene

Aliases for ATR Gene

  • ATR Serine/Threonine Kinase 2 3
  • FRP1 3 4 6
  • Ataxia Telangiectasia And Rad3-Related Protein 3 4
  • EC 2.7.11.1 4 63
  • FCTCS 3 6
  • SCKL1 3 6
  • MEC1 2 3
  • MEC1, Mitosis Entry Checkpoint 1, Homolog 3
  • Ataxia Telangiectasia And Rad3 Related 2
  • Serine/Threonine-Protein Kinase ATR 3
  • Mitosis Entry Checkpoint 1 2
  • Homolog (S. Cerevisiae) 2
  • FRAP-Related Protein-1 3
  • FRAP-Related Protein 1 4
  • 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 seckel syndrome 1 and cutaneous telangiectasia and cancer syndrome, familial. Among its related pathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include protein serine/threonine kinase activity and MutSalpha complex 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

  • ATR (Ataxia telangiectasia and Rad3 related) and ATM (Ataxia telangiectasia mutated) are closely related kinases that are activated by DNA damage. These serine-threonine protein kinases are part of the phosphatidylinositol 3� kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst ATR is activated by single strand breaks and phosphorylates Chk1.

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

Genomic Location for ATR Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys32, Lys746, Lys1005, and Lys2604
  • Modification sites at PhosphoSitePlus

Other Protein References for ATR Gene

Domains 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 :
  • Q13535
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 --
GO:0004672 protein kinase activity IDA 14657349
GO:0004674 protein serine/threonine kinase activity IDA 9733515
GO:0005488 binding --
GO:0005515 protein binding IPI 14657349
genes like me logo Genes that share ontologies with ATR: view
genes like me logo Genes that share phenotypes with ATR: view

Animal Models for ATR Gene

MGI Knock Outs for ATR:

Animal Model Products

CRISPR Products

miRNA for ATR Gene

miRTarBase miRNAs that target ATR

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATR

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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
nucleus 5
plasma membrane 3
cytoskeleton 2
cytosol 2
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001741 XY body IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome ISS --
GO:0005794 Golgi apparatus IDA --
GO:0016605 PML body IDA 12814551
genes like me logo Genes that share ontologies with ATR: view

Pathways for ATR Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cell Cycle in human,mouse,rat
    • DNA Damage Signaling Pathway in human,mouse,rat
    • DNA Repair in human,mouse,rat
    • Hypoxia Signaling Pathway in human,mouse,rat
    • Molecular Toxicology PathwayFinder 384HT in human,mouse,rat

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 IBA --
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair TAS --
GO:0006468 protein phosphorylation --
genes like me logo Genes that share ontologies with ATR: view

Compounds for ATR Gene

(3) 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]

(4) ApexBio Compounds for ATR Gene

Compound Action Cas Number
AZ20 potent and selective inhibitor of ATR [1233339-22-4]
KU 55933 Potent and selective ATM inhibitor [587871-26-9]
KU-60019 Potent and selective ATM kinase inhibitor [925701-49-1]
VE-821 Cell-permeable and ATP-competitive ATM kinase inhibitor [1232410-49-9]

(3) HMDB Compounds for ATR Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Manganese
  • manganese
7439-96-5

(17) Novoseek inferred chemical compound relationships for ATR Gene

Compound -log(P) Hits PubMed IDs
rpa 2 74.1 4
caffeine 59.6 16
hydroxyurea 58 7
wortmannin 57.3 8
aphidicolin 55 6
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATR

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATR
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with ATR: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia ATR 35
  • 99.65 (n)
  • 99.54 (a)
ATR 36
  • 100 (a)
OneToOne
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
mouse
(Mus musculus)
Mammalia Atr 35
  • 88.63 (n)
  • 90.67 (a)
Atr 16
Atr 36
  • 91 (a)
OneToOne
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
rat
(Rattus norvegicus)
Mammalia Atr 35
  • 89.02 (n)
  • 91.15 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Atr 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atr 35
  • 69.27 (n)
  • 72.11 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5590 35
zebrafish
(Danio rerio)
Actinopterygii atr 35
  • 63.51 (n)
  • 66.26 (a)
atr 36
  • 65 (a)
ManyToMany
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 intestinalis)
Ascidiacea Cin.7365 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
ManyToMany
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

Selected 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 MAF
rs1129391 -- 142,564,924(+) TGTTT(C/T)TCTGT intron-variant
rs1129393 -- 142,564,971(+) ACAGG(A/G)TTTTG intron-variant
rs1129395 -- 142,565,402(+) AAGAC(A/C)CCAAT intron-variant
rs2227928 other, - 142,562,770(-) ATTAA(C/T)GGTTC missense, reference, nc-transcript-variant
rs2227929 Benign 142,558,694(-) GATGA(C/T)GGCTG synonymous-codon, reference, nc-transcript-variant

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

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

(2) OMIM Diseases for ATR Gene (601215)

UniProtKB/Swiss-Prot

ATR_HUMAN
  • 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.
  • 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.

(13) Novoseek inferred disease relationships for ATR Gene

Disease -log(P) Hits PubMed IDs
ataxia telangiectasia 93.1 68
seckel syndrome 80.9 7
microsatellite instability 42.7 3
microcephaly 38.1 2
cancer 34 9

Relevant External Links for ATR

Genetic Association Database (GAD)
ATR
Human Genome Epidemiology (HuGE) Navigator
ATR
genes like me logo Genes that share disorders with ATR: view

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
  2. The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes. (PMID: 8843195) Keegan K.S. … Hoekstra M.F. (Genes Dev. 1996) 3 4 23
  3. Protein kinase mutants of human ATR increase sensitivity to UV and ionizing radiation and abrogate cell cycle checkpoint control. (PMID: 9636169) Wright J.A. … Concannon P. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23
  4. Inhibition of phosphoinositide 3-kinase related kinases by the radiosensitizing agent wortmannin. (PMID: 9766667) Sarkaria J.N. … Abraham R.T. (Cancer Res. 1998) 3 4 23
  5. Molecular association between ATR and two components of the nucleosome remodeling and deacetylating complex, HDAC2 and CHD4. (PMID: 10545197) Schmidt D.R. … Schreiber S.L. (Biochemistry 1999) 3 4 23

Products for ATR Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cell Cycle in human,mouse,rat
    • DNA Damage Signaling Pathway in human,mouse,rat
    • DNA Repair in human,mouse,rat
    • Hypoxia Signaling Pathway in human,mouse,rat
    • Molecular Toxicology PathwayFinder 384HT in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ATR
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for ATR
    • Block miRNA regulation of ATR using miScript Target Protectors
    • Addgene plasmids for ATR

    Sources for ATR Gene

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