ATM ATM serine/threonine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATMprovided by HGNC
Official Full Name: ATM serine/threonine kinaseprovided by HGNC
Primary source: HGNC:HGNC:795
See related: Ensembl:ENSG00000149311 MIM:607585; AllianceGenome:HGNC:795
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
Summary: The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
Expression: Ubiquitous expression in lymph node (RPKM 15.4), spleen (RPKM 9.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q22.3

Exon count:: 67

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (108223067..108369102)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (108230362..108376596)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (108093794..108239829)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phosphorylation of the DNA damage repair factor 53BP1 by ATM kinase controls neurodevelopmental programs in cortical brain organoids.
Title: Phosphorylation of the DNA damage repair factor 53BP1 by ATM kinase controls neurodevelopmental programs in cortical brain organoids.
REV7-p53 interaction inhibits ATM-mediated DNA damage signaling.
Title: REV7-p53 interaction inhibits ATM-mediated DNA damage signaling.
ATM inhibition exploits checkpoint defects and ATM-dependent double strand break repair in TP53-mutant glioblastoma.
Title: ATM inhibition exploits checkpoint defects and ATM-dependent double strand break repair in TP53-mutant glioblastoma.
SIRT2 promotes base excision repair by transcriptionally activating OGG1 in an ATM/ATR-dependent manner.
Title: SIRT2 promotes base excision repair by transcriptionally activating OGG1 in an ATM/ATR-dependent manner.
Nuclear DNA damage-triggered ATM-dependent AMPK activation regulates the mitochondrial radiation response.
Title: Nuclear DNA damage-triggered ATM-dependent AMPK activation regulates the mitochondrial radiation response.
Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment.
Title: Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment.
Inhibition of ATM promotes PD-L1 expression by activating JNK/c-Jun/TNF-alpha signaling axis in triple-negative breast cancer.
Title: Inhibition of ATM promotes PD-L1 expression by activating JNK/c-Jun/TNF-α signaling axis in triple-negative breast cancer.
ATM-Mediated translocation of RanBPM regulates DNA damage response by stabilizing p21 in non-small cell lung cancer cells.
Title: ATM-Mediated translocation of RanBPM regulates DNA damage response by stabilizing p21 in non-small cell lung cancer cells.
The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.
Title: The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.
ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.
Title: ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.

Submit: New GeneRIF Correction See all GeneRIFs (1127)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ataxia-telangiectasia syndrome MedGen: C0004135 OMIM: 208900 GeneReviews: Hereditary Ataxia Overview, Ataxia-Telangiectasia	Compare labs
Familial cancer of breast MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-08) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-08) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Does metformin work for everyone? A genome-wide association study for metformin response. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three new melanoma susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia	PubMed
	env	Interactions between tumor suppressor protein PML, TopBP1 and ATM exhibit in HIV-1 Env-elicited syncytia	PubMed
	env	Tumor suppressor protein PML is required for the activating phosphorylation of ATM, p38 MAPK, and p53 in HIV-1 Env-elicited syncytia	PubMed
Rev	rev	Ataxia-telangiectasia-mutated (ATM) kinase enhances HIV-1 replication by stimulating the action of the HIV-1 Rev viral posttranscriptional regulator	PubMed
Tat	tat	HIV-1 Tat upregulates ATM expression in Tat-infected Jurkat T cells	PubMed
Vif	vif	A3G upregulates NKG2D ligands through an ATM pathway and in which HIV-1 Vif counteracts this upregulation by decreasing A3G expression	PubMed
Vpr	vpr	HIV-1 Vpr activates ATM, a DNA double-strand break kinase that is required for cell response to DNA damage and for genome stability	PubMed
integrase	gag-pol	DNA double-strand breaks enhance integration of HIV-1 into macrophages in an IN D64A mutant, which has defective integrase catalytic activity. This IN-D64A-independent viral transduction is blocked by an inhibitor of ATM	PubMed
	gag-pol	ATM is proposed to play a role in the prevention of HIV-1 Integrase mediated cell killing	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ATM_exon32 (e-PCR)
- UniSTS:240896

ATM_exon33 (e-PCR)
- UniSTS:240897

ATM_exon36 (e-PCR)
- UniSTS:240898

ATM_exon37 (e-PCR)
- UniSTS:240899

ATM_exon38 (e-PCR)
- UniSTS:240900

PMC311160P1 (e-PCR)
- UniSTS:240901

ATM_exon41 (e-PCR)
- UniSTS:240902

ATM_exon44 (e-PCR)
- UniSTS:240903

ATM_exon50 (e-PCR)
- UniSTS:240904

ATM_exon52 (e-PCR)
- UniSTS:240905

PMC137935P1 (e-PCR)
- UniSTS:270858

D11S2921 (e-PCR)
- UniSTS:152074

ATM_exon53 (e-PCR)
- UniSTS:240906

ATM_exon61 (e-PCR)
- UniSTS:240907

RH36405 (e-PCR)
- UniSTS:69900

ATM_exon65F (e-PCR)
- UniSTS:240908

D11S3347 (e-PCR)
- UniSTS:152589

ATM_exon65a (e-PCR)
- UniSTS:240909

ATM_exon65b (e-PCR)
- UniSTS:240910

ATM_exon65c (e-PCR)
- UniSTS:240911

ATM_exon65e (e-PCR)
- UniSTS:240912

ATM_exon65g (e-PCR)
- UniSTS:240913

ATM_exons23and24 (e-PCR)
- UniSTS:240914

ATM_x9 (e-PCR)
- UniSTS:240915

RH119034 (e-PCR)
- UniSTS:138263

GDB:313261 (e-PCR)
- UniSTS:156445

D11S2560 (e-PCR)
- UniSTS:37928

csnpatm-pcr1-1 (e-PCR)
- UniSTS:242984

csnpatm-pcr10-1 (e-PCR)
- UniSTS:242985

csnpatm-pcr11-1 (e-PCR)
- UniSTS:242986

csnpatm-pcr15-1 (e-PCR)
- UniSTS:242987

csnpatm-pcr17-1 (e-PCR)
- UniSTS:242988

csnpatm-pcr18-1 (e-PCR)
- UniSTS:242989

csnpatm-pcr19-1 (e-PCR)
- UniSTS:242990

csnpatm-pcr20-1 (e-PCR)
- UniSTS:242991

csnpatm-pcr21-1 (e-PCR)
- UniSTS:242992

csnpatm-pcr22-1 (e-PCR)
- UniSTS:242993

csnpatm-pcr23-1 (e-PCR)
- UniSTS:242994

D8S2279 (e-PCR)
- UniSTS:473907

G67879 (e-PCR)
- UniSTS:225587

csnpatm-pcr24-1 (e-PCR)
- UniSTS:242995

G67874 (e-PCR)
- UniSTS:225588

csnpatm-pcr25-1 (e-PCR)
- UniSTS:242996

csnpatm-pcr27-1 (e-PCR)
- UniSTS:242997

csnpatm-pcr28-1 (e-PCR)
- UniSTS:242998

csnpatm-pcr29-1 (e-PCR)
- UniSTS:242999

csnpatm-pcr3-1 (e-PCR)
- UniSTS:243000

csnpatm-pcr30-1 (e-PCR)
- UniSTS:243001

csnpatm-pcr31-1 (e-PCR)
- UniSTS:243002

csnpatm-pcr33-1 (e-PCR)
- UniSTS:243003

csnpatm-pcr35-1 (e-PCR)
- UniSTS:243004

csnpatm-pcr38-1 (e-PCR)
- UniSTS:243005

csnpatm-pcr39-1 (e-PCR)
- UniSTS:243006

csnpatm-pcr4-1 (e-PCR)
- UniSTS:243007

csnpatm-pcr40-1 (e-PCR)
- UniSTS:243008

csnpatm-pcr42-1 (e-PCR)
- UniSTS:243009

RH102244 (e-PCR)
- UniSTS:96578

csnpatm-pcr43-1 (e-PCR)
- UniSTS:243010

csnpatm-pcr45-1 (e-PCR)
- UniSTS:243011

csnpatm-pcr46-1 (e-PCR)
- UniSTS:243012

csnpatm-pcr47-1 (e-PCR)
- UniSTS:243013

csnpatm-pcr48-1 (e-PCR)
- UniSTS:243014

csnpatm-pcr50-1 (e-PCR)
- UniSTS:243015

csnpatm-pcr55-1 (e-PCR)
- UniSTS:243016

csnpatm-pcr56-1 (e-PCR)
- UniSTS:243017

csnpatm-pcr6-1 (e-PCR)
- UniSTS:243018

csnpatm-pcr64-1 (e-PCR)
- UniSTS:243019

csnpatm-pcr7-1 (e-PCR)
- UniSTS:243020

csnpatm-pcr8-1 (e-PCR)
- UniSTS:243021

G54153 (e-PCR)
- UniSTS:109390

GDB:314949 (e-PCR)
- UniSTS:156503

L18426 (e-PCR)
- UniSTS:34648

L17709 (e-PCR)
- UniSTS:42599

STS-AA016254 (e-PCR)
- UniSTS:5480

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

ATM_2409 (e-PCR)
- UniSTS:280453

D11S3114 (e-PCR)
- UniSTS:152207

L17877 (e-PCR)
- UniSTS:61334

SHGC-35479 (e-PCR)
- UniSTS:69806

L17971 (e-PCR)
- UniSTS:43966

RH17960 (e-PCR)
- UniSTS:70087

GDB:631802 (e-PCR)
- UniSTS:158429

D11S2179 (e-PCR)
- UniSTS:150240

ATM_EXON49 (e-PCR)
- UniSTS:240887

ATM_EXON63 (e-PCR)
- UniSTS:240888

ATM_exon1a (e-PCR)
- UniSTS:240889

ATM_exon1b1 (e-PCR)
- UniSTS:240890

ATM_exon25 (e-PCR)
- UniSTS:240891

ATM_exon26 (e-PCR)
- UniSTS:240892

ATM_exon28 (e-PCR)
- UniSTS:240893

SHGC-82486 (e-PCR)
- UniSTS:104446

ATM_exon3 (e-PCR)
- UniSTS:240894

ATM_exon30 (e-PCR)
- UniSTS:240895

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol-3-kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS Traceable Author Statement more info
involved_in DNA double-strand break processing	IDA Inferred from Direct Assay more info	PubMed
involved_in V(D)J recombination	IEA Inferred from Electronic Annotation more info
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to X-ray	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to gamma radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to nitrosative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to reactive oxygen species	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to retinoic acid	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to stress	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular senescence	TAS Traceable Author Statement more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair	TAS Traceable Author Statement more info
involved_in double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	TAS Traceable Author Statement more info
involved_in establishment of RNA localization to telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein-containing complex localization to telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female meiotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in histone mRNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipoprotein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in male meiotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in meiotic telomere clustering	IEA Inferred from Electronic Annotation more info
involved_in mitotic G2 DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of TORC1 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere capping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in oocyte development	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within peptidyl-serine autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in pexophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol-3-phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of telomerase catalytic core complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance via telomerase	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of telomere maintenance via telomere lengthening	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in pre-B cell allelic exclusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reciprocal meiotic recombination	TAS Traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	TAS Traceable Author Statement more info
involved_in regulation of autophagosome assembly	IC Inferred by Curator more info	PubMed
involved_in regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cellular response to heat	TAS Traceable Author Statement more info
involved_in regulation of microglial cell activation	IEA Inferred from Electronic Annotation more info
involved_in regulation of signal transduction by p53 class mediator	TAS Traceable Author Statement more info
involved_in regulation of telomere maintenance via telomerase	IGI Inferred from Genetic Interaction more info	PubMed
involved_in replicative senescence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction in response to DNA damage	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somitogenesis	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in thymus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of DNA repair complex	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in chromosome	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extrinsic component of synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in peroxisomal matrix	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal matrix	TAS Traceable Author Statement more info
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serine-protein kinase ATM

Names: A-T mutated; AT mutated; TEL1, telomere maintenance 1, homolog; ataxia telangiectasia mutated; serine/threonine kinase ATM

NP_000042.3

EC 2.7.11.1

NP_001338763.1

EC 2.7.11.1

NP_001338764.1

EC 2.7.11.1

NP_001338765.1

EC 2.7.11.1

XP_005271619.2

EC 2.7.11.1

XP_006718906.1

EC 2.7.11.1

XP_006718908.1

EC 2.7.11.1

XP_011541142.1

EC 2.7.11.1

XP_011541144.1

EC 2.7.11.1

XP_011541145.1

EC 2.7.11.1

XP_011541146.1

EC 2.7.11.1

XP_016873279.1

EC 2.7.11.1

XP_047282931.1

EC 2.7.11.1

XP_047282932.1

EC 2.7.11.1

XP_047282933.1

EC 2.7.11.1

XP_047282934.1

EC 2.7.11.1

XP_047282935.1

EC 2.7.11.1

XP_047282937.1

EC 2.7.11.1

XP_054224846.1

EC 2.7.11.1

XP_054224847.1

EC 2.7.11.1

XP_054224848.1

EC 2.7.11.1

XP_054224849.1

EC 2.7.11.1

XP_054224850.1

EC 2.7.11.1

XP_054224851.1

EC 2.7.11.1

XP_054224852.1

EC 2.7.11.1

XP_054224853.1

EC 2.7.11.1

XP_054224854.1

EC 2.7.11.1

XP_054224855.1

EC 2.7.11.1

XP_054224856.1

EC 2.7.11.1

XP_054224857.1

EC 2.7.11.1

XP_054224858.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009830.1 RefSeqGene

Range

5001..151268

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_135

mRNA and Protein(s)

NM_000051.4 → NP_000042.3 serine-protein kinase ATM isoform a

See identical proteins and their annotated locations for NP_000042.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AP001925, AP005718, U26455, U33841, X91196

Consensus CDS

CCDS31669.1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7

UniProtKB/TrEMBL

A0AAQ5BH37

Related

ENSP00000501606.1, ENST00000675843.1

Conserved Domains (4) summary

cd05171
Location:2683 → 2962

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2097 → 2489

FAT; FAT domain

pfam02260
Location:3026 → 3055

FATC; FATC domain

pfam11640
Location:8 → 165

TAN; Telomere-length maintenance and DNA damage repair
NM_001351834.2 → NP_001338763.1 serine-protein kinase ATM isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform . Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AP001925, AP005718, U33841

Consensus CDS

CCDS31669.1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7

UniProtKB/TrEMBL

A0AAQ5BH37

Related

ENSP00000388058.2, ENST00000452508.7

Conserved Domains (4) summary

cd05171
Location:2683 → 2962

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2097 → 2489

FAT; FAT domain

pfam02260
Location:3026 → 3055

FATC; FATC domain

pfam11640
Location:8 → 165

TAN; Telomere-length maintenance and DNA damage repair
NM_001351835.2 → NP_001338764.1 serine-protein kinase ATM isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (b).

Source sequence(s)

AI479273, AP001925

Consensus CDS

CCDS86245.1

UniProtKB/TrEMBL

E9PRG7, M0QXY8, Q6P7P1

Related

ENSP00000507649.1, ENST00000683914.2

Conserved Domains (1) summary

pfam11640
Location:8 → 110

TAN; Telomere-length maintenance and DNA damage repair
NM_001351836.2 → NP_001338765.1 serine-protein kinase ATM isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (b).

Source sequence(s)

AP001925, BC061584

Consensus CDS

CCDS86245.1

UniProtKB/TrEMBL

E9PRG7, M0QXY8, Q6P7P1

Related

ENSP00000480205.1, ENST00000526567.5

Conserved Domains (1) summary

pfam11640
Location:8 → 110

TAN; Telomere-length maintenance and DNA damage repair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

108223067..108369102

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542840.4 → XP_011541142.1 serine-protein kinase ATM isoform X1

See identical proteins and their annotated locations for XP_011541142.1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7

UniProtKB/TrEMBL

A0AAQ5BH37

Related

ENSP00000469471.2, ENST00000601453.3

Conserved Domains (4) summary

cd05171
Location:2683 → 2962

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2097 → 2489

FAT; FAT domain

pfam02260
Location:3026 → 3055

FATC; FATC domain

pfam11640
Location:8 → 165

TAN; Telomere-length maintenance and DNA damage repair
XM_047426977.1 → XP_047282933.1 serine-protein kinase ATM isoform X2
XM_006718843.5 → XP_006718906.1 serine-protein kinase ATM isoform X1

See identical proteins and their annotated locations for XP_006718906.1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7

UniProtKB/TrEMBL

A0AAQ5BH37

Conserved Domains (4) summary

cd05171
Location:2683 → 2962

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2097 → 2489

FAT; FAT domain

pfam02260
Location:3026 → 3055

FATC; FATC domain

pfam11640
Location:8 → 165

TAN; Telomere-length maintenance and DNA damage repair
XM_047426979.1 → XP_047282935.1 serine-protein kinase ATM isoform X2
XM_017017790.3 → XP_016873279.1 serine-protein kinase ATM isoform X1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7

UniProtKB/TrEMBL

A0AAQ5BH37

Conserved Domains (4) summary

cd05171
Location:2683 → 2962

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2097 → 2489

FAT; FAT domain

pfam02260
Location:3026 → 3055

FATC; FATC domain

pfam11640
Location:8 → 165

TAN; Telomere-length maintenance and DNA damage repair
XM_047426975.1 → XP_047282931.1 serine-protein kinase ATM isoform X1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
XM_047426978.1 → XP_047282934.1 serine-protein kinase ATM isoform X2
XM_011542842.4 → XP_011541144.1 serine-protein kinase ATM isoform X2

UniProtKB/TrEMBL

A0AAQ5BH37

Conserved Domains (4) summary

cd05171
Location:2628 → 2907

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2042 → 2434

FAT; FAT domain

pfam02260
Location:2971 → 3000

FATC; FATC domain

pfam11640
Location:11 → 112

TAN; Telomere-length maintenance and DNA damage repair
XM_011542843.3 → XP_011541145.1 serine-protein kinase ATM isoform X3

UniProtKB/TrEMBL

A0AAQ5BH18, A0AAQ5BH37

Related

ENSP00000519148.1, ENST00000713843.1

Conserved Domains (3) summary

cd05171
Location:2683 → 2890

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2097 → 2489

FAT; FAT domain

pfam11640
Location:11 → 165

TAN; Telomere-length maintenance and DNA damage repair
XM_047426981.1 → XP_047282937.1 serine-protein kinase ATM isoform X6

Related

ENSP00000434327.3, ENST00000531525.3
XM_047426976.1 → XP_047282932.1 serine-protein kinase ATM isoform X1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
XM_005271562.6 → XP_005271619.2 serine-protein kinase ATM isoform X1

See identical proteins and their annotated locations for XP_005271619.2

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7

UniProtKB/TrEMBL

A0AAQ5BH37

Related

ENSP00000278616.4, ENST00000278616.10

Conserved Domains (4) summary

cd05171
Location:2683 → 2962

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2097 → 2489

FAT; FAT domain

pfam02260
Location:3026 → 3055

FATC; FATC domain

pfam11640
Location:8 → 165

TAN; Telomere-length maintenance and DNA damage repair
XM_011542844.4 → XP_011541146.1 serine-protein kinase ATM isoform X4

UniProtKB/TrEMBL

A0AAQ5BH37

Conserved Domains (3) summary

cd05171
Location:2335 → 2614

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:1749 → 2141

FAT; FAT domain

pfam02260
Location:2678 → 2707

FATC; FATC domain
XM_006718845.3 → XP_006718908.1 serine-protein kinase ATM isoform X5

See identical proteins and their annotated locations for XP_006718908.1

UniProtKB/Swiss-Prot

Q13315

Conserved Domains (3) summary

cd05171
Location:1335 → 1614

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:749 → 1141

FAT; FAT domain

pfam02260
Location:1678 → 1707

FATC; FATC domain

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

108230362..108376596

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368875.1 → XP_054224850.1 serine-protein kinase ATM isoform X1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
XM_054368878.1 → XP_054224853.1 serine-protein kinase ATM isoform X2
XM_054368880.1 → XP_054224855.1 serine-protein kinase ATM isoform X2
XM_054368874.1 → XP_054224849.1 serine-protein kinase ATM isoform X1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
XM_054368871.1 → XP_054224846.1 serine-protein kinase ATM isoform X1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
XM_054368872.1 → XP_054224847.1 serine-protein kinase ATM isoform X1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
XM_054368879.1 → XP_054224854.1 serine-protein kinase ATM isoform X2
XM_054368877.1 → XP_054224852.1 serine-protein kinase ATM isoform X2
XM_054368881.1 → XP_054224856.1 serine-protein kinase ATM isoform X3

UniProtKB/TrEMBL

A0AAQ5BH18
XM_054368876.1 → XP_054224851.1 serine-protein kinase ATM isoform X1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
XM_054368873.1 → XP_054224848.1 serine-protein kinase ATM isoform X1

UniProtKB/Swiss-Prot

B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
XM_054368882.1 → XP_054224857.1 serine-protein kinase ATM isoform X4
XM_054368883.1 → XP_054224858.1 serine-protein kinase ATM isoform X5

RNA

XR_008488402.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_138292.3: Suppressed sequence

Description

NM_138292.3: This RefSeq was permanently suppressed because the CDS was partial, and the transcript retained intronic sequence at its 5' end.
NM_138293.1: Suppressed sequence

Description

NM_138293.1: This RefSeq was permanently suppressed because it represents a partial, incompletely processed transcript.