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; regulation of chromosome organization; and regulation of intracellular signal transduction. 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

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.p14 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

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Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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