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Aliases &
Descriptions
for ATR
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases |
|---|
| EC 2.7.11.1 3 | | FRP1 1, 2, 3, 5 | | MEC1 1, 2 | | SCKL 1, 2, 5 | | SCKL1 1, 2 |
| | | Descriptions |
|---|
| Ataxia telangiectasia and Rad3-related protein 3 | | FRAP-related protein 1 3 | | FRAP-related protein-1 2 | | MEC1, mitosis entry checkpoint 1, homolog 2 | | Rad3 related protein 2 | | ataxia telangiectasia and Rad3 related 2 | | ataxia telangiectasia and Rad3 related protein 2 | | protein kinase ATR 2 |
|
| |
Search outside databases for aliases for ATR genePrevious GC identifers: GC03M139200 GC03M142996 GC03M143449 GC03M143488 |
Summaries
for ATR(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ATR:
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]
UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535Function: 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 TP53/p53, 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 duplicationGene Wiki entry for ATR (Ataxia_telangiectasia_and_Rad3_related) |
Genomic Location
for ATR
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences)
About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
 Transcription factor binding sites upstream to the ATR gene 
Entrez Gene cytogenetic band: 3q22-q24 Ensembl cytogenetic band: 3q23 HGNC cytogenetic band: 3q22-q24ATR Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M143650:
(about GC identifiers)
Start:
|
143,650,767 bp from pter |
End:
|
143,780,358 bp from pter |
Size:
|
129,592 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000003.10 NT_005612.15
| Proteins
for ATR
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535 (See
protein sequence)Recommended Name: Serine/threonine-protein kinase ATR Size: 2644 amino acids; 301367 Da
Cofactor: Manganese
Subunit: Forms an 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
Subcellular location: Nucleus. 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
Secondary accessions: Q59HB2 Q7KYL3 Q93051 Q9BXK4Alternative splicing: 3 isoforms: Q13535-1 Q13535-2 Q13535-3 Post-translational modifications:
Phosphorylated; autophosphorylates in vitro1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001175.2
ENSEMBL proteins: ENSP00000372581 ENSP00000343741
Human Recombinant Proteins  Browse Origene for full length recombinant human proteins expressed in human HEK293 cells
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ATR:
Assays for ATR: | Protein
Domains/
Families
for ATR(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q13535
ProtoNet protein and cluster: Q13535 4 Blocks protein families: IPB000357 HEAT repeat IPB000403 Phosphatidylinositol 3- and 4-kinase IPB003151 PIK-related kinase IPB012993 UME
UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535Similarity: Belongs to the PI3/PI4-kinase family. ATM subfamilySimilarity: Contains 1 FAT domainSimilarity: Contains 1 FATC domainSimilarity: Contains 2 HEAT repeatsSimilarity: Contains 1 PI3K/PI4K domain | Gene Function
for ATR
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001184
 Applied Biosystems Silencer® siRNAs for ATR
 Sigma-Aldrich siRNA and siRNA Panels for ATR
Sigma-Aldrich shRNA Panels and shRNA for ATR
Explore Sigma-Aldrich super-pooled esiRNAs
OriGene GFP tagged cDNA clone in CMV expression vector: NM_001184
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001184
untagged cDNA clones in CMV expression vector (see all 2): NM_001184
Primers:  Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
OriGene genome-wide validated SYBR primer pairs: NM_001184
UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535Function: 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 TP53/p53, 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 duplicationCatalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme regulation: Activated by DNA and inhibited by BCR-ABL oncogene. Slightly activated by ATRIP.
Inhibited by caffeine, wortmannin and LY294002Enzyme Number (IUBMB): EC 2.7.11.1 Genatlas biochemistry entry for ATR: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)15/17 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Atr) (see all 17
):
5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7
): About this table | Pathways & Interactions
for ATR
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for ATR (Your Favorite Gene powered by Ingenuity) (see all 7
)
Gene Network CentralTM Interacting Genes and Proteins Network for ATR
5/6 Interacting proteins for ATR (Q135351, 2) via UniProtKB, MINT, and/or STRING (see all 6
)About this table
5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
): About this table
|
Drugs & Compounds
for ATR(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Compounds for ATR available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| CGK 733 | Selective inhibitor of ATR and ATM kinases | [905973-89-9] |
About this table
8  Novoseek chemical compound relationships for ATR gene
About this table
|
Transcripts
for ATR(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene,
Expression Assays from Applied Biosystems)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001184
Sigma-Aldrich siRNA and siRNA Panels for ATR
Sigma-Aldrich shRNA Panels and shRNA for ATR
Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer® siRNAs: NM_001184 REFSEQ mRNAs for ATR gene: NM_001184.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001184
OriGene GFP tagged cDNA clone in CMV expression vector: NM_001184
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001184
untagged cDNA clones in CMV expression vector (see all 2): NM_001184
Additional cDNA sequence: AB208847.1 AK024078.1 AK307402.1 U49844.1 U76308.1 Y09077.1 13 DOTS entries: DT.449930 DT.92432319 DT.449932 DT.92060084 DT.95346997 DT.95270707 DT.100659600 DT.100740582 DT.91973306 DT.97817961 DT.99990398 DT.100678744 DT.100678754 24/94 AceView cDNA sequences (see all 94
):AV728129 BM129718 AK131535 BM141963 BX507341 BQ940681 CA503113 BM855140 BE859077 CK819648 AA504255 AI288527 BG679313 AK024078 BI259481 BU676069 BI837105 CA489384 CA771217 BG192205 AA969753 CA771525 AW769551 BM129153
 highest scoring ESTs for ATR:U49844 AL707012 BU193242 U76308 Y09077 AA215661 AA825525 AI902746 AI902747 AL039634 Unigene Cluster for ATR: Ataxia telangiectasia and Rad3 related Hs.271791 [show with all ESTs]Unigene Representative Sequence: NM_001184
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for ATR
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for ATR
2 Ensembl transcripts including schematic representations: ENST00000383101
ENST00000350721
|
Expression
for ATR
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ATR expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ATR
1 / 2 / 3 7 probe-sets matching ATR gene Data from
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.271791
UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535Tissue specificity: Ubiquitous, with highest expression in testis. Isoform 2 is found in pancreas,
placenta and liver but not in heart, testis and ovary |
Orthologs
for ATR
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ATR gene from 5/12 species (see all 12
)
About this table Species with no ortholog for ATR
ENSEMBL Gene Tree for ATR | Paralogs
for ATR(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for ATR gene
- ATM2
|
SNPs/Variants
for ATR(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ATR (up to first 250kb)
|
Disorders & Mutations
for ATR
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 601215 disorders: 210600 UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535
Defects in ATR are a cause of Seckel syndrome type 1 (SCKL1) [MIM:210600]. SCKL1 is a rare
autosomal recessive disorder characterized by growth retardation, microcephaly with mental
retardation, and a characteristic 'bird-headed' facial appearance10/13 Novoseek disease relationships for ATR gene (see all 13
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ataxia telangiectasia |
93.16 |
78 |
8824640 (2), 17297454 (2), 17526493 (2), 12640452 (2) (see all 56) |
| seckel syndrome |
79.66 |
6 |
15496423 (2), 15309689 (1), 12640452 (1), 16015581 (1) |
| microcephaly |
40.77 |
2 |
16015581 (2) |
| microsatellite instability |
33.64 |
3 |
15282542 (1), 16103057 (1) |
| cancer |
28.88 |
8 |
16103057 (2), 10367890 (1), 15987455 (1), 18381943 (1) (see all 6) |
| promyelocytic leukemia |
22.15 |
1 |
17030982 (1) |
| breast cancer |
17.55 |
6 |
17010193 (3) |
| immunodeficiency |
16.59 |
6 |
17210576 (2), 16306615 (2), 15650165 (1), 15709017 (1) |
| ovarian cancer |
7.18 |
4 |
15987455 (3), 17010193 (1) |
| mental retardation |
5.54 |
1 |
16015581 (1) |
About this table
Human Gene Mutation Database: ATR
Genetic Association Database: ATR
Human Genome Epidemiology Navigator: ATR (19 documents)
|
Medical News
for ATR(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications
for ATR (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/303 PubMed articles for ATR gene (see all 303
):- cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein. (PubMed id 8610130)1, 2, 3, 4 Cimprich K.A....Schreiber S.L. (1996)
- The Schizosaccharomyces pombe rad3 checkpoint gene. (PubMed id 8978690)2, 3, 4 Bentley N.J.... Carr A.M. (1996)
- Recruitment of the cell cycle checkpoint kinase ATR to chromatin during S-phase. (PubMed id 14871897)1, 3, 4 Dart D.A.... Lakin N.D. (2004)
- ATR and ATRIP: partners in checkpoint signaling. (PubMed id 11721054)1, 3, 4 Cortez D.... Elledge S.J. (2001)
- ATR is a caffeine-sensitive, DNA-activated protein kinase with a substrate specificity distinct from DNA-PK. (PubMed id 10597277)1, 3, 4 Hall-Jackson C.A.... Smythe C. (1999)
- The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes. (PubMed id 8843195)1, 3, 4 Keegan K.S.... Hoekstra M.F. (1996)
- Mutation analysis of the ATR gene in breast and ovarian cancer families. (PubMed id 15987455)1, 3, 6 Heikkinen K....Winqvist R. (2005)
- Quaternary structure of ATR and effects of ATRIP and replication protein A on its DNA binding and kinase activities. (PubMed id 14729973)1, 3, 4 Uensal-Kacmaz K. and Sancar A. (2004)
- Preferential binding of ATR protein to UV-damaged DNA. (PubMed id 12011431)1, 3, 4 Uensal-Kacmaz K.... Sancar A. (2002)
- Protein kinase mutants of human ATR increase sensitivity to UV and ionizing radiation and abrogate cell cycle checkpoint control. (PubMed id 9636169)1, 3, 4 Wright J.A.... Concannon P. (1998)
|
Search for ATR
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATR
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ATR
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATR(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| About This Section
| --
| Services
for ATR(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section
| 
Products for ATR:
 | |
 | | | | |
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 | Antibodies & Assays for ATR |
| | | Recombinant Proteins
(ATR) | | | Antibodies (ATR) |
| | | | Tocris compounds for ATR |
|
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