ATM (ataxia telangiectasia mutated)

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Keyword

Gene: ATM (ataxia telangiectasia mutated) Homo sapiens

Symbol:

ATM

Name:

ataxia telangiectasia mutated

Description:

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]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

A-T mutated; AT mutated; AT1; ATA; ataxia telangiectasia mutated (includes complementation groups A, C and D); ATC; ATD; ATDC; ATE; DKFZp781A0353; human phosphatidylinositol 3-kinase homolog; MGC74674; OTTHUMP00000232981; serine-protein kinase ATM; TEL1; TEL1, telomere maintenance 1, homolog; TELO1

Orthologs:

Mus musculus : Atm (ataxia telangiectasia mutated homolog (human)) MGI
Rattus norvegicus : Atm (ataxia telangiectasia mutated)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	11	107,957,748 - 108,103,987	+	NCBI
Human Genome Assembly HuRef	11	104,019,183 - 104,165,444	+	NCBI
Human Genome Assembly GRCh37	11	108,093,559 - 108,239,826	+	NCBI
Human Genome Assembly Build 36	11	107,598,769 - 107,745,036	+	NCBI
Human Cytogenetic Map	11	q22-q23		NCBI