ATM (ATM serine/threonine kinase)

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Gene: ATM (ATM serine/threonine kinase) Homo sapiens

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Symbol:

ATM

Name:

ATM serine/threonine kinase

RGD ID:

1606040

HGNC Page

HGNC:795

Description:

Enables 1-phosphatidylinositol-3-kinase activity; DNA-dependent protein kinase activity; and identical protein binding activity. Involved in several processes, including cellular response to ionizing radiation; protein phosphorylation; and regulation of chromosome organization. Acts upstream of or within peptidyl-serine autophosphorylation. Located in nucleolus and nucleoplasm. Part of DNA repair complex. Is active in peroxisomal matrix. Colocalizes with chromosome, telomeric region. Implicated in several diseases, including breast cancer (multiple); endometrial cancer; lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Biomarker of several diseases, including gastrointestinal system cancer (multiple); human immunodeficiency virus infectious disease; lung non-small cell carcinoma; oral mucosa leukoplakia; and prostate carcinoma in situ.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

A-T mutated; AT mutated; AT1; ATA; ataxia telangiectasia mutated; ataxia telangiectasia mutated (includes complementation groups A, C and D); ATC; ATD; ATDC; ATE; DKFZp781A0353; human phosphatidylinositol 3-kinase homolog; MGC74674; serine-protein kinase ATM; serine/threonine kinase ATM; TEL1; TEL1, telomere maintenance 1, homolog; TELO1; truncated ATM serine/threonine kinase

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Atm (ataxia telangiectasia mutated)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Atm (ATM serine/threonine kinase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Atm (ATM serine/threonine kinase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ATM (ATM serine/threonine kinase)	NCBI	Ortholog
Canis lupus familiaris (dog):	ATM (ATM serine/threonine kinase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Atm (ATM serine/threonine kinase)	NCBI	Ortholog
Sus scrofa (pig):	ATM (ATM serine/threonine kinase)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ATM (ATM serine/threonine kinase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Atm (ATM serine/threonine kinase)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Atm (ataxia telangiectasia mutated)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Atm (ATM serine/threonine kinase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	atm (ATM serine/threonine kinase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	TEL1	Alliance	DIOPT (Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	atm-1	Alliance	DIOPT (OrthoInspector\|PANTHER)
Drosophila melanogaster (fruit fly):	tefu	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	atm	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	atm.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	108,223,067 - 108,369,102 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	11	108,223,044 - 108,369,102 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	108,093,794 - 108,239,829 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	107,598,769 - 107,745,036 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	105,248,510 - 105,394,764 (+)	NCBI		Celera
Cytogenetic Map	11	q22.3	NCBI
HuRef	11	104,019,183 - 104,165,444 (+)	NCBI		HuRef
CHM1_1	11	107,976,660 - 108,122,959 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	108,230,362 - 108,376,596 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

Annotation Click to see Annotation Detail View

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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
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Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar