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ATR Gene(Protein Coding)

ATR Serine/Threonine Kinase

GCID:
GC03M142449
GIFtS:
72
Genes Participants
UDN Logo

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 61
  • FRP1 3 4
  • MEC1, Mitosis Entry Checkpoint 1, Homolog (S. Cerevisiae) 2
  • MEC1, Mitosis Entry Checkpoint 1, Homolog 3
  • Ataxia Telangiectasia And Rad3 Related 2
  • Serine/Threonine-Protein Kinase ATR 3
  • FRAP-Related Protein-1 3
  • FRAP-Related Protein 1 4
  • FCTCS 3
  • SCKL1 3
  • MEC1 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]

CIViC summary for ATR Gene

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 DNA Double-Strand Break Repair and Regulation of TP53 Activity. 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

Products:

  1. Regulatory Element

Regulatory Elements for ATR Gene

Enhancers for ATR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G142576 1.2 ENCODE 7.3 +0.4 395 3.4 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SSRP1 PBX2P1 XRN1 ATR SUCLG2P1
GH03G142594 1.1 ENCODE 7.1 -18.0 -17992 3.8 FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ATR PLS1 XRN1 PLS1-AS1
GH03G142601 0.4 ENCODE 17.2 -24.0 -23973 2.4 PKNOX1 ATR RPL6P9 XRN1 PLS1 PLS1-AS1
GH03G142618 0.9 ENCODE 6.6 -40.2 -40223 1.6 HDAC1 TBL1XR1 E2F7 CHAMP1 TCF12 GATA2 FOS CREM ZBTB11 NCOA1 PLS1 RNA5SP143 ATR XRN1 PLS1-AS1
GH03G142647 0.7 ENCODE 8.3 -69.2 -69223 0.7 CTCF ZNF654 TSHZ1 RAD21 FOSL1 ZSCAN21 JUND ATF3 ZNF366 ZBTB48 PLS1 RNA5SP143 ATR PLS1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATR on UCSC Golden Path with GeneCards custom track

Promoters for ATR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000159442 226 2001 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

Transcription factor binding sites by QIAGEN in the ATR gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for ATR Gene

Proteins for ATR Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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; forming a heterodimer with ATRIP (PubMed:11721054). 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

Protein Expression for ATR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ATR Gene

Q13535:
  • FLDLIPQ
  • HVDFNCLF
  • LHIRTYAV
  • SLQKPKK
  • CKPKDDLRKD

Post-translational modifications for ATR Gene

  • Phosphorylated; autophosphorylates in vitro.
  • Ubiquitination at Lys32, posLast=746746, Lys1005, and posLast=26042604
  • Modification sites at PhosphoSitePlus

Other Protein References for ATR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATR (ATR)
  • Abcam antibodies for ATR
  • Santa Cruz Biotechnology (SCBT) Antibodies for ATR

Domains & Families for ATR Gene

Gene Families for ATR Gene

IUPHAR :

Protein Domains for ATR Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Belongs to the PI3/PI4-kinase family. ATM subfamily.
Family:
  • Belongs to the PI3/PI4-kinase family. ATM subfamily.
genes like me logo Genes that share domains with ATR: view

Function for ATR Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:
Serine/threonine-protein kinase activity is directly stimulated by TOPBP1 (PubMed:16530042). ATR kinase activity is also directly activated by ETAA1, independently of TOPBP1 (PubMed:27723720, PubMed:27723717). Activated by DNA and inhibited by BCR-ABL oncogene (PubMed:10597277). Slightly activated by ATRIP (PubMed:14729973). Inhibited by caffeine, wortmannin and LY294002 (PubMed:9766667).
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:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0004672 protein kinase activity IDA,TAS 14657349
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0005515 protein binding IPI 14657349
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

CRISPR Products

miRNA for ATR Gene

miRTarBase miRNAs that target ATR

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATR

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATR gene
Compartment Confidence
nucleus 5
golgi apparatus 5
plasma membrane 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IC 26586433
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome ISS --
GO:0005794 Golgi apparatus IDA --
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

Activates:
Inactivates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IDA 14657349
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair TAS 8610130
GO:0006974 cellular response to DNA damage stimulus TAS 15538388
GO:0007049 cell cycle TAS 9590286
genes like me logo Genes that share ontologies with ATR: view

Drugs & Compounds for ATR Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluoxetine Approved, Vet_approved Pharma Channel blocker 238
Floxuridine Approved Pharma Antineoplastic antimetabolite, RNA and DNA synthesis inhibitor 49
Niraparib Approved, Investigational Pharma inhibitor, Biomarker PARP inhibitor, PARP Inhibitors 22
Olaparib Approved Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other, Poly(ADPRIBOSE) polymerase (PARP) inhibitors 140
Rucaparib Approved, Investigational Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other 16

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

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

(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

(10) ApexBio Compounds for ATR Gene

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

Transcripts for ATR Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ATR Gene

(5) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(94) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATR Gene

Ataxia telangiectasia and Rad3 related:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATR

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATR Gene

mRNA expression in normal human tissues for ATR Gene
mRNA expression by BioGPS for ATR GenemRNA expression by GTEx 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, MaxQB, and MOPED for ATR Gene



NURSA nuclear receptor signaling pathways regulating expression of ATR Gene:

ATR

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.

Evidence on tissue expression from TISSUES for ATR Gene

  • Blood(4.4)
  • Nervous system(4.2)
  • Heart(3.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ATR: view

Primer 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
chimpanzee
(Pan troglodytes)
 Mammalia ATR 34 35
  • 99.65 (n)
dog
(Canis familiaris)
 Mammalia ATR 34 35
  • 92.98 (n)
cow
(Bos Taurus)
 Mammalia ATR 34 35
  • 92.15 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 92 (a)
 OneToMany
-- 35
  • 88 (a)
 OneToMany
-- 35
  • 85 (a)
 OneToMany
-- 35
  • 83 (a)
 OneToMany
-- 35
  • 78 (a)
 OneToMany
-- 35
  • 73 (a)
 OneToMany
-- 35
  • 62 (a)
 OneToMany
-- 35
  • 44 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Atr 34
  • 89.02 (n)
mouse
(Mus musculus)
 Mammalia Atr 34 16 35
  • 88.63 (n)
oppossum
(Monodelphis domestica)
 Mammalia ATR 35
  • 86 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ATR 34 35
  • 75.3 (n)
lizard
(Anolis carolinensis)
 Reptilia ATR 35
  • 73 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia atr 34
  • 69.27 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Atr 34
zebrafish
(Danio rerio)
 Actinopterygii atr 34 35
  • 63.51 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5590 34
fruit fly
(Drosophila melanogaster)
 Insecta mei-41 35
  • 27 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea atl-1 35
  • 20 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MEC1 35 37
  • 24 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 51 (a)
 ManyToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.7365 34
Species where no ortholog for ATR was found in the sources mined by GeneCards:
  • 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
rs387906797 Pathogenic, Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564] 142,469,458(-) TTCAC(A/G)ATTGA nc-transcript-variant, downstream-variant-500B, reference, missense
VAR_041591 A lung squamous cell carcinoma sample
VAR_041594 A lung adenocarcinoma sample
VAR_041597 A lung large cell carcinoma sample
VAR_041600 A breast pleomorphic lobular carcinoma sample

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

Variant ID Type Subtype PubMed ID
dgv827n67 CNV loss 20364138
nsv1123695 CNV deletion 24896259
nsv523945 CNV gain 19592680
nsv528954 CNV loss 19592680
nsv591919 CNV gain 21841781

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

Human Gene Mutation Database (HGMD)
ATR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATR

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

Disorders for ATR Gene

MalaCards: The human disease database

(15) 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 type 1
seckel syndrome
  • bird-headed dwarfism
ataxia-telangiectasia
  • ataxia telangiectasia
ataxia
- 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 22 64
  2. ATR mutation in endometrioid endometrial cancer is associated with poor clinical outcomes. (PMID: 19470935) Zighelboim I. … Goodfellow P.J. (J. Clin. Oncol. 2009) 3 22 46 64
  3. Protein phosphatase 5 is required for ATR-mediated checkpoint activation. (PMID: 16260606) Zhang J. … Wang X.F. (Mol. Cell. Biol. 2005) 3 4 22 64
  4. Mutation analysis of the ATR gene in breast and ovarian cancer families. (PMID: 15987455) Heikkinen K. … Winqvist R. (Breast Cancer Res. 2005) 3 22 46 64
  5. Quaternary structure of ATR and effects of ATRIP and replication protein A on its DNA binding and kinase activities. (PMID: 14729973) Uensal-Kacmaz K. … Sancar A. (Mol. Cell. Biol. 2004) 3 4 22 64

Products for ATR Gene

  • Addgene plasmids for ATR

Sources for ATR Gene

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