Atm - ataxia telangiectasia mutated Gene

Mus musculus

Also known as C030026E19Rik

Gene ID: 11920 | Gene type: protein coding

About Atm

Chromosome 9: 53,350,449-53,448,040 reverse strand.GRCm39:CM001002.3

This gene has 6 transcripts (splice variants), 226 orthologues, 5 paralogues and is associated with 130 phenotypes. Ubiquitous expression in CNS E11.5 (RPKM 3.8), CNS E14 (RPKM 2.7) and 24 other tissues.

Summary

Enables protein kinase activity. Involved in several processes, including cellular response to retinoic acid; negative regulation of TORC1 signaling; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within several processes, including DNA recombination; animal organ development; and meiotic nuclear division. Located in cytoplasm; microtubule cytoskeleton; and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study ataxia telangiectasia. Human ortholog(s) of this gene implicated in several diseases, including colorectal cancer; endometrial cancer; lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Orthologous to human ATM (ATM serine/threonine kinase). [provided by Alliance of Genome Resources, Apr 2022]

Atm Products(1)

mRNA	Protein	Name
NM_007499.3	NP_031525.3	serine-protein kinase ATM

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone H2AXS139 kinase activity	IDA IDA: Inferred from direct assay	11571274	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	15680327	MGI
enables protein kinase activity	IDA IDA: Inferred from direct assay	10710310	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	12937170	MGI
acts upstream of or within DNA damage response	IGI IGI: Inferred from genetic interaction	19061978	MGI
acts upstream of or within DNA repair	IDA IDA: Inferred from direct assay	15364958	MGI
acts upstream of or within DNA repair	IMP IMP: Inferred from mutant phenotype	11679583	MGI
acts upstream of or within V(D)J recombination	IGI IGI: Inferred from genetic interaction	23836881	MGI
acts upstream of or within brain development	IGI IGI: Inferred from genetic interaction	16687486	MGI
involved in cellular response to retinoic acid	IMP IMP: Inferred from mutant phenotype	20876357	MGI
acts upstream of or within chromosome organization involved in meiotic cell cycle	IMP IMP: Inferred from mutant phenotype	8843194	MGI
acts upstream of or within determination of adult lifespan	IGI IGI: Inferred from genetic interaction	19061978	MGI
acts upstream of or within double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	19061978	MGI
acts upstream of or within female gamete generation	IMP IMP: Inferred from mutant phenotype	15640358	MGI
acts upstream of or within female gonad development	IMP IMP: Inferred from mutant phenotype	8843194	MGI
acts upstream of or within female meiotic nuclear division	IMP IMP: Inferred from mutant phenotype	8843194	MGI
acts upstream of or within heart development	IGI IGI: Inferred from genetic interaction	16687486	MGI
acts upstream of or within immune system process	IMP IMP: Inferred from mutant phenotype	8843194	MGI
acts upstream of or within immunoglobulin production	IMP IMP: Inferred from mutant phenotype	8843194	MGI
acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage	IGI IGI: Inferred from genetic interaction	17476307	MGI
acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage	IMP IMP: Inferred from mutant phenotype	11040211	MGI
acts upstream of or within lipoprotein catabolic process	IGI IGI: Inferred from genetic interaction	15863839	MGI
acts upstream of or within male meiotic nuclear division	IMP IMP: Inferred from mutant phenotype	8843194	MGI
acts upstream of or within meiotic telomere clustering	IMP IMP: Inferred from mutant phenotype	17010969	MGI
acts upstream of or within multicellular organism growth	IMP IMP: Inferred from mutant phenotype	8843194	MGI
involved in negative regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	23878245	MGI
acts upstream of neuron apoptotic process	IGI IGI: Inferred from genetic interaction	10639175	MGI
acts upstream of or within neuron apoptotic process	IGI IGI: Inferred from genetic interaction	11248063	MGI
acts upstream of or within oocyte development	IMP IMP: Inferred from mutant phenotype	11536012	MGI
acts upstream of or within ovarian follicle development	IMP IMP: Inferred from mutant phenotype	8843194	MGI
involved in positive regulation of cell adhesion	IMP IMP: Inferred from mutant phenotype	20876357	MGI
acts upstream of or within positive regulation of neuron apoptotic process	IGI IGI: Inferred from genetic interaction	10639175	MGI
involved in positive regulation of telomere maintenance via telomerase	IMP IMP: Inferred from mutant phenotype	26586427	MGI
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20876357	MGI
acts upstream of or within post-embryonic development	IMP IMP: Inferred from mutant phenotype	8843194	MGI
involved in pre-B cell allelic exclusion	IMP IMP: Inferred from mutant phenotype	19448632	MGI
acts upstream of or within protein phosphorylation	IDA IDA: Inferred from direct assay	15364958	MGI
involved in regulation of autophagy	IMP IMP: Inferred from mutant phenotype	23878245	MGI
acts upstream of or within response to ionizing radiation	IGI IGI: Inferred from genetic interaction	10639175	MGI
acts upstream of or within somitogenesis	IGI IGI: Inferred from genetic interaction	16687486	MGI
acts upstream of or within thymus development	IMP IMP: Inferred from mutant phenotype	8843194	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IDA IDA: Inferred from direct assay	25936915	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	29955025	MGI
is active in extrinsic component of synaptic vesicle membrane	IDA IDA: Inferred from direct assay	27075534	MGI
located in nucleus	IDA IDA: Inferred from direct assay	29955025	MGI
located in spindle	IDA IDA: Inferred from direct assay	15509711	MGI

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

Atm Protein Structure

TAN

FAT

PIKKc_ATM

FATC

0
500
1000
1500
2000
2500
3063 a.a.

Protein Preferred Names

Protein Names

serine-protein kinase ATM

A-T mutated homolog	ataxia telangiectasia gene mutated in human beings
ataxia telangiectasia mutated homolog

Related Agents

Clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Phase
HY-111783	AZD-7648	Inhibitor	99.86%	Phase 2
HY-139609	Camonsertib	Inhibitor	99.75%	Phase 2
HY-109566	AZD1390	Inhibitor	99.22%	Phase 1
HY-100016	AZD0156	Inhibitor	99.83%	Phase 1
HY-13902	Berzosertib	Inhibitor	99.70%	Phase 1

Pre-clinical Phase

Bioactive Molecules (19)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12016	KU-55933	Inhibitor	99.92%	Unkown
HY-14731	VE-821	Inhibitor	99.67%	Unkown
HY-12061	KU-60019	Inhibitor	99.43%	Unkown
HY-150617	Lartesertib	Inhibitor	99.94%	Unkown
HY-15520	CGK733	Inhibitor	99.83%	Unkown
HY-11002	CP-466722	Inhibitor	99.74%	Unkown
HY-103241	Ro 90-7501	Inhibitor	99.10%	Unkown
HY-15521	ETP-46464	Inhibitor	99.55%	Unkown
HY-112305	AZ32	Inhibitor	99.94%	Unkown
HY-112198	AZ31	Inhibitor	98.13%	Unkown
HY-112614	ATM Inhibitor-1	Inhibitor	/	Unkown
HY-141478	Antitumor agent-28	Inhibitor	/	Unkown
HY-151915	ATR-IN-20	Inhibitor	/	Unkown
HY-147567	ATR-IN-15	Inhibitor	/	Unkown
HY-144687	ATM Inhibitor-4	Inhibitor	/	Unkown
HY-144686	ATM Inhibitor-3	Inhibitor	/	Unkown
HY-144685	ATM Inhibitor-2	Inhibitor	/	Unkown
HY-169310	ATM Inhibitor-11	Inhibitor	/	Unkown
HY-149291	ATM Inhibitor-7	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Atm	NCBI	NCBI:472

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