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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATR Gene

protein-coding GIFtS: 69
GCID: GC03M142168

ataxia telangiectasia and Rad3 related

Explore 53 diseases affiliated with
ATR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ataxia Telangiectasia And Rad3 Related¹ ²		EC 2.7.11.1³ ⁸
FRP1¹ ² ³ ⁵		FCTCS²
SCKL¹ ² ⁵		FRAP-Related Protein-1²
MEC1¹ ²		MEC1, Mitosis Entry Checkpoint 1, Homolog²
SCKL1¹ ²		Protein Kinase ATR²
Ataxia Telangiectasia And Rad3-Related Protein² ³		Rad3 Related Protein²
FRAP-Related Protein 1² ³		Serine/Threonine-Protein Kinase ATR²

External Ids:	HGNC: 882¹	Entrez Gene: 545²	Ensembl: ENSG00000175054⁷	OMIM: 601215⁵	UniProtKB: Q13535³

Export aliases for ATR gene to outside databases

Previous GC identifers: GC03M139200 GC03M142996 GC03M143449 GC03M143488 GC03M143650 GC03M139541

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene 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, Jul 2008)

UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535

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

summary for ATR:

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 (Ataxia telangiectasia and Rad3 related)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATR gene promoter:
LHX3b/Lhx3b AP-1 ATF-2 LHX3a/Lhx3a AP-4 c-Jun Tal-1beta E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATR promoter sequence

Search SABiosciences Chromatin IP Primers for ATR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q23 Ensembl cytogenetic band: 3q23 HGNC cytogenetic band: 3q23

ATR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATR gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M142168: view genomic region (about GC identifiers)

Start:	142,168,077 bp from pter	End:	142,297,668 bp from pter
Size:	129,592 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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: 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

Subcellular location: Nucleus. Nucleus, PML body (By similarity). Chromosome (By similarity). 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 Q9BXK4

Alternative splicing: 3 isoforms: Q13535-1 Q13535-2 Q13535-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATR: NX_Q13535

Post-translational modifications:

Phosphorylated; autophosphorylates in vitro¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13535

4/5 DME Specific Peptides for ATR (Q13535) (see all 5)

SLQKPKK

FLDLIPQ

LHIRTYAV

HVDFNCLF

ATR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001175.2

ENSEMBL proteins:

ENSP00000422553 ENSP00000421870 ENSP00000343741 ENSP00000424355 ENSP00000424754

ENSP00000425897 ENSP00000426595 ENSP00000372581

Reactome Protein details: Q13535
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for ATR
	GenScript Custom Purified and Recombinant Proteins Services for ATR
	Novus Biologicals ATR Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ATR

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001741	XY body	IEA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005694	chromosome	ISS	--
GO:0016605	PML body	IEA	--

ATR for ontologies About GeneDecksing

ATR Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ATR
	R&D Systems Antibodies for ATR
	Cell Signaling Technology (CST) Antibodies for ATR
	Browse OriGene Antibodies OriGene Custom Antibody Services for ATR
	GenScript Superior Antibodies for ATR
	Novus Biologicals ATR Antibodies
	Search for Antibodies for ATR at Abcam
	Uscn Antibodies for ATR
	ThermoFisher Antibody for ATR

Assay Products for ATR:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ATR
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ATR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATR for domains About GeneDecksing

5/11 InterPro domains/families (see all 11):

IPR000403 PI3/4_kinase_cat_dom

IPR012993 UME

IPR011990 TPR-like_helical

IPR011989 ARM-like

IPR021133 HEAT_type_2

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, Q13535

Similarity: Belongs to the PI3/PI4-kinase family. ATM subfamily

Similarity: Contains 1 FAT domain

Similarity: Contains 1 FATC domain

Similarity: Contains 2 HEAT repeats

Similarity: Contains 1 PI3K/PI4K domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535

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

Catalytic activity: ATP + a protein = ADP + a phosphoprotein

Enzyme regulation: Activated by DNA and inhibited by BCR-ABL oncogene. Slightly activated by ATRIP. Inhibited by

caffeine, wortmannin and LY294002

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)

Enzyme Number (IUBMB): EC 2.7.11.1¹ ²

miRNA Products:		OriGene 3'-UTR Clone: ATR Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATR
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ATR
		SwitchGear 3'UTR luciferase reporter plasmid: ATR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATR (see all 4) OriGene shRNA RFP: ATR OriGene siRNA: ATR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATR

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ATR

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATR (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATR (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ATR (NM_001184)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATR

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ATR
		Search LifeMap BioReagents cell lines for ATR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATR

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

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:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--

ATR for ontologies About GeneDecksing

9 GenomeRNAi human phenotypes for ATR:

Decreased focal adhesion (FA)	Decreased substrate adherent c	Decreased telomerase activity	Decreased viability with cispl
Increased apoptosis	Increased cell death HMECs cel	Increased colony dispersion (i	PARP inhibitor sensitization
Synthetic lethal with cisplati

Animal Models:
Mouse knock-out Atr^tm1Bal for ATR
15/23 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Atr) (see all 23):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
digestive/alimentary	embryogenesis	endocrine/exocrine gland	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	liver/biliary system	mortality/aging

ATR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/29 super-pathways (see all 29) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Fanconi Anemia pathway

	Fanconi Anemia pathway	1.00			Regulation of the Fanconi anemia pathway	0.42
	Fanconi's Anaemia Pathway	0.43			BARD1 signaling events	0.23

Chks in Checkpoint Regulation

	Chks in Checkpoint Regulation	1.00			p53 Signaling	0.32
	G2-M Phase Transition	0.59			DNA Repair Mechanisms	0.32

Meiotic Synapsis

	Meiotic Synapsis	1.00			Chromosome Maintenance	0.56
	Meiosis	0.70

G2/M DNA damage checkpoint

	G2/M DNA damage checkpoint	1.00			DNA damage_DNA-damage-induced responses	0.29
	DNA damage DNA-damage-induced responses	0.29

Cell cycle_Role of 14-3-3 proteins in cell cycle regulation

Cell cycle_Role of 14-3-3 proteins in cell cycle regulation

1.00

Cell cycle Role of 14-3-3 proteins in cell cycle regulation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5 EMD Millipore Pathways for ATR

	DNA damage ATM/ATR regulation of G1/S checkpoint
	Cell cycle Role of 14-3-3 proteins in cell cycle regulation
	DNA damage DNA-damage-induced responses
	Transcription P53 signaling pathway
	DNA damage Role of Brca1 and Brca2 in DNA repair

5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATR (see all 13)

	BRCA1 Pathway
	Molecular Mechanisms of Cancer
	DNA Damage Induced 14-3-3Sigma Signaling
	G1-S Phase Transition
	p53 Mediated Apoptosis

2 Cell Signaling Technology (CST) Pathways for ATR

	Cell Cycle / Checkpoint Control
	DNA Damage

1 Tocris Bioscience Pathway for ATR

Apoptosis Pathway

5 GeneGo (Thomson Reuters) Pathways for ATR

	DNA damage Role of Brca1 and Brca2 in DNA repair
	DNA damage ATM/ATR regulation of G1/S checkpoint
	Transcription P53 signaling pathway
	DNA damage DNA-damage-induced responses
	Cell cycle Role of 14-3-3 proteins in cell cycle regulation

5/7 BioSystems Pathways for ATR (see all 7)

	DNA damage response
	Integrated Breast Cancer Pathway
	Circadian rhythm pathway
	BARD1 signaling events
	p53 pathway

5/11 Reactome Pathways for ATR (see all 11)

	DNA Repair
	Regulation of the Fanconi anemia pathway
	Activation of ATR in response to replication stress
	Cell Cycle
	Meiotic Synapsis

2 Kegg Pathways (Kegg details for ATR):

	Cell cycle
	p53 signaling pathway

ATR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ATR

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/717 Interacting proteins for ATR (Q13535^{1, 2, 3} ENSP00000343741⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 717)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=4
HIST1H4B	P62805³	I2D: score=4
HIST1H4C	P62805³	I2D: score=4
HIST1H4D	P62805³	I2D: score=4
HIST1H4E	P62805³	I2D: score=4

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000075	cell cycle checkpoint	TAS	--
GO:0000077	DNA damage checkpoint	IDA	14657349
GO:0006260	DNA replication	TAS	--
GO:0006281	DNA repair	TAS	--
GO:0006468	protein phosphorylation	--	--

ATR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ATR for compounds About GeneDecksing

EMD Millipore small molecules for ATR:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for ATR available from Tocris Bioscience About this table

Compound	Action	CAS #
CGK 733	Selective inhibitor of ATR and ATM kinases	[905973-89-9]

3 HMDB Compounds for ATR About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Manganese	manganese	7439-96-5	--

10/17 Novoseek chemical compound relationships for ATR gene (see all 17) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rpa 2	74.1	4	16483312 (3), 15197179 (1)
caffeine	59.6	20	16479016 (2), 10597277 (2), 15169897 (1), 15709017 (1) (see all 14)
hydroxyurea	58	7	16293623 (2), 15197179 (1), 11711532 (1), 11016625 (1) (see all 6)
wortmannin	57.3	8	9766667 (2), 15709017 (1), 19414815 (1), 15533933 (1) (see all 7)
aphidicolin	55	10	20060399 (5), 15309689 (1)
camptothecin	42	6	16483312 (3), 15699047 (2), 20304914 (1)
phosphoinositide	41.5	6	12011431 (1), 19763948 (1), 12234250 (1), 14729973 (1) (see all 6)
methylmethanesulfonate	26.7	4	12670903 (1), 17292679 (1)
okadaic acid	22.6	3	16479016 (2)
phosphatidylinositol	22	5	20304914 (1), 10801416 (1), 16603769 (1), 16483312 (1)

Search CenterWatch for drugs/clinical trials and news about ATR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ATR gene:

NM_001184.3

Unigene Cluster for ATR:

Ataxia telangiectasia and Rad3 related

Hs.271791 [show with all ESTs]

Unigene Representative Sequence: NM_001184

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000504521 ENST00000515810 ENST00000350721(uc003eux.4) ENST00000513291(uc003euy.1)

ENST00000515107 ENST00000511016 ENST00000514393 ENST00000507620 ENST00000515863

ENST00000515149 ENST00000507148 ENST00000383101

miRNA Products:		OriGene 3'-UTR Clone: ATR Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATR
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		SwitchGear 3'UTR luciferase reporter plasmid: ATR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATR (see all 4) OriGene shRNA RFP: ATR OriGene siRNA: ATR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATR

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATR (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATR (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ATR (NM_001184)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATR

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATR Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat ATR
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATR
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATR

Additional cDNA sequence:

AB208847.1 AK024078.1 AK307402.1 U49844.1 U76308.1 Y09077.1

12 DOTS entries:

DT.449930 DT.92432319 DT.449932 DT.92060084 DT.95270707 DT.100659600 DT.100740582 DT.91973306

DT.97817961 DT.100678744 DT.100678754 DT.99990398

24/94 AceView cDNA sequences (see all 94):

BM129718 BX507341 BQ940681 BE859077 CK819648 CA503113 AK131535 BM855140

AV728129 BM141963 AK024078 AW237573 CA489384 AW769028 BI837105 BG192205

BG679313 AI285634 BM796532 BM141700 CD610878 BU620031 AA969753 BU616550

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for ATR About this scheme

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:																																													-

ECgene alternative splicing isoforms for ATR

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

ATR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ATR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATR

SOURCE GeneReport for Unigene cluster: Hs.271791

UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535

Tissue specificity: Ubiquitous, with highest expression in testis. Isoform 2 is found in pancreas, placenta and liver

but not in heart, testis and ovary

SABiosciences Expression via Pathway-Focused PCR Arrays including ATR (see all 7):

Cell Cycle in human mouse rat

DNA Damage Signaling Pathway in human mouse rat

p53 Signaling Pathway in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

DNA Repair in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATR gene from 8/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ATR¹	ataxia telangiectasia and Rad3 related	75.34(n) 78.31(a)		424777 XM_003641741.1 XP_003641789.1
lizard (Anolis carolinensis)	Reptilia	ATR⁶	--	73(a)	1 ↔ 1	3(21838376-21892029)
African clawed frog (Xenopus laevis)	Amphibia	Atr²	Atr protein	78.68(n)		AF320125.1
zebrafish (Danio rerio)	Actinopterygii	atr¹	ataxia telangiectasia and Rad3 related	63.49(n) 66.16(a)		567770 XM_691071.4 XP_696163.4
fruit fly (Drosophila melanogaster)	Insecta	mei-41⁶	meiotic 41	23(a)	1 ↔ 1	X(16285794-16293601)
worm (Caenorhabditis elegans)	Secernentea	atl-1⁶	Serine/threonine-protein kinase ATR	10(a)	1 ↔ 1	V(9634837-9645478)
thale cress (Arabidopsis thaliana)	eudicotyledons	ATRAD3⁶	serine/threonine-protein kinase ATR	23(a)	1 ↔ 1	5(16342745-16353898)
rice (Oryza sativa)	Liliopsida	--	Phosphatidylinositol kinase and FAT containing dom...	23(a)	1 ↔ 1	6(30796114-30814785)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs13062411^1,2	C,H	--	139541287(+)	`AAATAA/CCAGTT`	1	--	ut3¹		4		NS EA	414
rs13062441^1,2	C,H	--	139541342(+)	`CAACCA/CCAGAT`	1	--	ut3¹ ese³		4		NS EA	388
rs1804758^1,2	C,F,H	--	139541438(-)	`ACTATG/ACCAGA`	2	/Y /C	mis¹		16		MN NS EA NA	1880
rs7652760^1,2	C,F,	--	139541751(+)	`GATACT/CGATTT`	1	--	int¹		5		NA WA CSA	128
rs62276421^1,2	C,	--	139541982(+)	`GAGCTA/GCTTGG`	1	--	int¹		2		NA	122
rs111385995^1,2		--	139542248(+)	`CCCTTT/CTGCAG`	1	--	int¹		2		CSA WA	120
rs112748363^1,2	C,	--	139542373(+)	`TGGGGC/TTGCTG`	1	--	int¹		0	--	--	--	--
rs113055455^1,2		--	139542631(+)	`TAGATG/TGTCAG`	1	--	int¹		1		CSA	2
rs111700291^1,2		--	139542978(+)	`GAACTA/GCACCA`	1	--	int¹		2		CSA NA	122
rs75693766^1,2	F,	--	139543036(+)	`CTCCAG/AGAAAA`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for ATR (142168077 - 142297668 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATR: --
Human Gene Mutation Database (HGMD): ATR

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATR

DNA2.0 Custom Variant and Variant Library Synthesis for ATR

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ATR for disorders           About GeneDecksing

OMIM gene information: 601215
OMIM 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 appearance

Defects in ATR are the cause of 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

20/53 diseases for ATR (see all 53): About MalaCards

ataxia telangiectasia ataxia seckel syndrome chronic active epstein-barr virus infection

blepharophimosis, ptosis, and epicanthus inversus syndrome dna ligase iv deficiency xeroderma pigmentosum, group a xeroderma pigmentosum

nijmegen breakage syndrome seckel syndrome 1 blepharophimosis breast cancer susceptibility

ovarian cancer ptosis ehrlichiosis sporadic breast cancer

chronic lymphocytic leukemia bloom syndrome breast-ovarian cancer herpes simplex

5 diseases from the University of Copenhagen DISEASES database for ATR:

Seckel syndrome Ataxia telangiectasia Microcephaly Nijmegen breakage syndrome

Mucoepidermoid carcinoma

10/13 Novoseek disease relationships for ATR gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ataxia telangiectasia	93.1	84	8824640 (2), 20103595 (2), 17297454 (2), 17526493 (2) (see all 61)
seckel syndrome	80.9	8	15496423 (2), 19504344 (2), 15309689 (1), 12640452 (1) (see all 5)
microsatellite instability	42.7	4	15282542 (1), 19470935 (1), 16103057 (1)
microcephaly	38.1	2	16015581 (2)
cancer	34	10	16103057 (2), 19570909 (1), 10367890 (1), 15987455 (1) (see all 8)
breast cancer	23.5	7	17010193 (3), 19477925 (1)
promyelocytic leukemia	19.7	1	17030982 (1)
immunodeficiency	17.3	6	17210576 (2), 16306615 (2), 15650165 (1), 15709017 (1)
ovarian cancer	11.5	4	15987455 (3), 17010193 (1)
tumors	4.78	10	15282542 (2), 17010193 (1), 12670903 (1), 19470935 (1) (see all 6)

Genetic Association Database (GAD): ATR
Human Genome Epidemiology (HuGE) Navigator: ATR (43 documents)

Export disorders for ATR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ATR gene, integrated from 9 sources (see all 432):
(articles sorted by number of sources associating them with ATR)

Utopia: connect your pdf to the dynamic
world of online information

cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein. (PubMed id 8610130)^{1, 2, 3, 9} Cimprich K.A....Schreiber S.L. (1996)
The Schizosaccharomyces pombe rad3 checkpoint gene. (PubMed id 8978690)^{1, 2, 3} Bentley N.J.... Carr A.M. (1996)
Recruitment of the cell cycle checkpoint kinase ATR to chromatin during S-phase. (PubMed id 14871897)^{1, 2, 9} Dart D.A.... Lakin N.D. (2004)
ATR and ATRIP: partners in checkpoint signaling. (PubMed id 11721054)^{1, 2, 9} 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, 2, 9} 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, 2, 9} Keegan K.S.... Hoekstra M.F. (1996)
Mutation analysis of the ATR gene in breast and ovarian cancer families. (PubMed id 15987455)^{1, 4, 9} 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, 2, 9} Uensal-Kacmaz K. and Sancar A. (2004)
Preferential binding of ATR protein to UV-damaged DNA. (PubMed id 12011431)^{1, 2, 9} 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, 2, 9} Wright J.A.... Concannon P. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 545	HGNC: 882	AceView: ATR	Ensembl:ENSG00000175054	euGenes: HUgn545
ECgene: ATR	Kegg: 545	H-InvDB: ATR

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ATR	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ATR	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATR

Intellectual Property for ATR gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ATR gene:
Search GeneIP for patents involving ATR

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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ataxia telangiectasia and Rad3 related

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