ATR - ATR serine/threonine kinase Gene

Also Known as FRP1; MEC1; SCKL; FCTCS; SCKL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 545

About ATR

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:142,449,235-142,578,733 (from NCBI)

This gene has 22 transcripts (splice variants), 209 orthologues, 5 paralogues and is associated with 131 phenotypes. Ubiquitous expression in testis (RPKM 5.4), adrenal (RPKM 5.3) and 25 other tissues.

Summary

The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and Mitosis, and can promote DNA repair, recombination, and Apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]

ATR Products (9)

mRNA	Protein	Name
NM_001354579.2	NP_001341508.1	serine/threonine-protein kinase ATR isoform 2
XM_047448364.1	XP_047304320.1	serine/threonine-protein kinase ATR isoform X7
XM_011512925.2	XP_011511227.1	serine/threonine-protein kinase ATR isoform X4
NM_001184.4	NP_001175.2	serine/threonine-protein kinase ATR isoform 1
XM_047448360.1	XP_047304316.1	serine/threonine-protein kinase ATR isoform X2
XM_047448363.1	XP_047304319.1	serine/threonine-protein kinase ATR isoform X6
XM_047448362.1	XP_047304318.1	serine/threonine-protein kinase ATR isoform X5
XM_011512924.2	XP_011511226.1	serine/threonine-protein kinase ATR isoform X1
XM_047448361.1	XP_047304317.1	serine/threonine-protein kinase ATR isoform X3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables MutLalpha complex binding	IDA IDA: Inferred from direct assay	16713580	GOA
enables MutSalpha complex binding	IDA IDA: Inferred from direct assay	16713580	GOA
enables histone H2AXS139 kinase activity	IDA IDA: Inferred from direct assay	11673449	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9733515	GOA
enables protein kinase activity	IDA IDA: Inferred from direct assay	14657349	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	9733515	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage checkpoint signaling	IDA IDA: Inferred from direct assay	14657349	GOA
involved in DNA damage response	IDA IDA: Inferred from direct assay	11673449	GOA
involved in cellular response to UV	IMP IMP: Inferred from mutant phenotype	9925639	GOA
involved in cellular response to gamma radiation	IDA IDA: Inferred from direct assay	9925639	GOA
involved in double-strand break repair	IDA IDA: Inferred from direct assay	11390642	GOA
involved in establishment of RNA localization to telomere	IMP IMP: Inferred from mutant phenotype	26586433	GOA
involved in mitotic G2/M transition checkpoint	IDA IDA: Inferred from direct assay	30139873	GOA
involved in negative regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	14657349	GOA
acts upstream of nuclear membrane disassembly	IDA IDA: Inferred from direct assay	37788673	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	9733515	GOA
involved in positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP IMP: Inferred from mutant phenotype	9925639	GOA
involved in positive regulation of telomerase catalytic core complex assembly	IMP IMP: Inferred from mutant phenotype	26586433	GOA
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	9733515	GOA
involved in protein localization to chromosome, telomeric region	IMP IMP: Inferred from mutant phenotype	21829167	GOA
involved in replicative senescence	IMP IMP: Inferred from mutant phenotype	15149599	GOA
involved in response to mechanical stimulus	IDA IDA: Inferred from direct assay	25083873	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of ATR-ATRIP complex	IPI IPI: Inferred from physical interaction	11721054	GOA
located in PML body	IDA IDA: Inferred from direct assay	12814551	GOA
is active in nuclear envelope	IDA IDA: Inferred from direct assay	25083873	GOA
is active in site of DNA damage	IDA IDA: Inferred from direct assay	21777809	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATR Protein Structure

UME

FAT

PI3_PI4_kinase

FATC

0
500
1000
1500
2000
2500
2644 a.a.

Protein Preferred Names	Protein Names
serine/threonine-protein kinase ATR	FRAP-related protein-1 MEC1, mitosis entry checkpoint 1, homolog ataxia telangiectasia and Rad3-related protein

ATR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATR	Q13535	TTI1	Homo sapiens	O43156	Anti Bait CoIP	20810650
Intra	ATR	Q13535	CDK9	Homo sapiens	P50750	Anti Bait CoIP	20930849
Intra	ATR	Q13535	CDC5L	Homo sapiens	Q99459	Anti Bait CoIP	19633697
Intra	ATR	Q13535	CDC5L	Homo sapiens	Q99459	Pull Down	19633697
Intra	ATR	Q13535	CINP	Homo sapiens	Q9BW66	Anti Tag CoIP	19889979
Intra	ATR	Q13535	ATRIP	Homo sapiens	Q8WXE1	GMS	17686975
Intra	ATR	Q13535	ATRIP	Homo sapiens	Q8WXE1	Anti Tag CoIP	23144622
Intra	ATR	Q13535	ATRIP	Homo sapiens	Q8WXE1	Anti Tag CoIP	19889979
Intra	ATR	Q13535	ATRIP	Homo sapiens	Q8WXE1	Ion Exchange Chrom	20616048

Cross: Cross-species interaction Intra: Intraspecies interaction

ATR Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P87024	Phospho-ATR (T1989) Antibody (YA6717)	WB, ICC/IF	Human
HY-P87024A	Phospho-ATR (T1989) Antibody (YA6717)(PBS only)	WB, ICC/IF	Human

Related Diseases

Diseases	Alias
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Pontocerebellar Hypoplasia, Type 2e	Pontocerebellar Hypoplasia Type 2 Pontocerebellar Hypoplasia Type 2e Pch2 PCH2E Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy Pontocerebellar Hypoplasia 2e Pcca2 Progressive Cerebello-Cerebral Atrophy Type 2 Doid:0112328 Hypoplasia, Pontocerebellar, Type 2e Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia Type 2a
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Cancer Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Ataxia-Telangiectasia	Ataxia Telangiectasia Louis-Bar Syndrome AT At1 Ataxia-Telangiectasia Syndrome Ataxia - Telangiectasia Variant Boder-Sedgwick Syndrome Louis Bar Syndrome Cerebello-Oculocutaneous Telangiectasia Immunodeficiency With Ataxia Telangiectasia A-T Ataxia Telangiectasia Syndrome Atm Telangiectasia, Cerebello-Oculocutaneous Ataxia-Telangiectasia Variant
Breast Cancer	Breast Carcinoma Breast Cancer, Familial Malignant Neoplasm Of Breast Male Breast Cancer Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Blepharophimosis
Autosomal Recessive Cerebellar Ataxia	Arca
Nijmegen Breakage Syndrome	Berlin Breakage Syndrome NBS Microcephaly, Normal Intelligence And Immunodeficiency Ataxia-Telangiectasia Variant Ataxia-Telangiectasia Variant V1 Seemanova Syndrome Ii Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome Seemanova Syndrome Type 2 At-V1 Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence Immunodeficiency, Microcephaly, And Chromosomal Instability Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome Microcephaly Immunodeficiency Lymphoreticuloma Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence Seemanova Syndrome 2 Ataxia-Telangiectasia Variant 1 Seemanova Syndrome At V1 Ataxia-Telangiectasia, Variant 1 Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome V-At Ataxia Telangiectasia Variant V1
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Seckel Syndrome 1	SCKL1 Nanocephalic Dwarfism Microcephalic Primordial Dwarfism I Seckel-Type Dwarfism Bird-Headed Dwarfism Sckl Seckel Syndrome, Type 1 Seckel Syndrome
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis De Sanctis-Cacchione Syndrome Xp Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Cutaneous Telangiectasia And Cancer Syndrome, Familial	FCTCS Telangiectasia, Cutaneous, And Cancer Syndrome, Familial Familial Cutaneous Telangiectasia And Oropharyngeal Predisposition Cancer Syndrome Familial Cutaneous Telangiectasia And Oropharyngeal Cancer Predisposition Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Phase
HY-19323	Ceralasertib	Inhibitor	99.76%	Phase 3
HY-13902	Berzosertib	Inhibitor	99.67%	Phase 2
HY-101566	Elimusertib	Inhibitor	99.91%	Phase 2
HY-139609	Camonsertib	Inhibitor	99.99%	Phase 2
HY-101566A	Elimusertib hydrochloride	Inhibitor	99.85%	Phase 2

Pre-clinical Phase

Bioactive Molecules (31)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14731	VE-821	Inhibitor	99.67%	Unkown
HY-136270	Gartisertib	Inhibitor	99.77%	Unkown
HY-15557	AZ20	Inhibitor	99.40%	Unkown
HY-15520	CGK733	Inhibitor	99.71%	Unkown
HY-15521	ETP-46464	Inhibitor	99.54%	Unkown
HY-N6954	Garcinone C	Activator	99.51%	Unkown
HY-159480	AD1058	Inhibitor	98.11%	Unkown
HY-P10280	ATR kinase substrate peptide	Substrate	99.30%	Unkown
HY-161615	PROTAC ATR degrader-2	Degrader	99.73%	Unkown
HY-13816	NU6027	Inhibitor	98.01%	Unkown
HY-157767	Abd110	Inhibitor	98.67%	Unkown
HY-147569	ATR-IN-17	Inhibitor	/	Unkown
HY-147567	ATR-IN-15	Inhibitor	/	Unkown
HY-147566	ATR-IN-14	Inhibitor	/	Unkown
HY-182017	ATR ligand 2	Ligand	/	Unkown
HY-13902A	Berzosertib hydrochloride	Inhibitor	98.77%	Unkown
HY-161838	ICT10336	Inhibitor	/	Unkown
HY-182016	PROTAC ATR degrader-3	Degrader	/	Unkown
HY-151915	ATR-IN-20	Inhibitor	/	Unkown
HY-174828	ATR/PARP1-IN-1	Inhibitor	/	Unkown
HY-147568	ATR-IN-16	Inhibitor	/	Unkown
HY-153393	ATR-IN-21	Inhibitor	/	Unkown
HY-147190	ATR-IN-19	Inhibitor	/	Unkown
HY-144214	ATR-IN-10	Inhibitor	/	Unkown
HY-147570	ATR-IN-18	Inhibitor	/	Unkown
HY-147565	ATR-IN-13	Inhibitor	/	Unkown
HY-172247	ATR-IN-31	Inhibitor	/	Unkown
HY-153729	ATR-IN-29	Inhibitor	/	Unkown
HY-161616	ATR-IN-30		/	Unkown
HY-141478	Antitumor agent-28	Inhibitor	/	Unkown
HY-N18301	Americanin A	Activator	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ATR	VGNC	VGNC:38293
Macaca mulatta	ATR	VGNC	VGNC:70193
Felis catus	ATR	VGNC	VGNC:68780
Bos taurus	ATR	VGNC	VGNC:26334
Rattus norvegicus	ATR	RGD	RGD:1305796
Mus musculus	ATR	MGD	MGI:108028
Others	ATR	NCBI