InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ATM

Summary

InnateDB Gene

IDBG-70193.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATM

Gene Name

ataxia telangiectasia mutated

Synonyms

AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1

Species

Homo sapiens

Ensembl Gene

ENSG00000149311

Encoded Proteins

IDBP-70195

ataxia telangiectasia mutated

IDBP-382900

ataxia telangiectasia mutated

IDBP-592565

ataxia telangiectasia mutated

IDBP-586263

ataxia telangiectasia mutated

IDBP-593972

ataxia telangiectasia mutated

IDBP-806730

ATM serine/threonine kinase

IDBP-806747

ATM serine/threonine kinase

IDBP-584640

ataxia telangiectasia mutated

IDBP-596936

ataxia telangiectasia mutated

IDBP-718655

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation from Orthologs

Summary

PMID 25692705

[Mus musculus] Unrepaired DNA lesions induce type I interferons via the Tmem173 pathway, resulting in enhanced anti-viral and anti-bacterial responses in Atm (-/-) mice.

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:108222484-108369102

Strand

Forward strand

Band

q22.3

Transcripts

ENST00000278616	ENSP00000278616
ENST00000419286
ENST00000452508	ENSP00000388058
ENST00000527805	ENSP00000435747
ENST00000527891	ENSP00000433955
ENST00000532931	ENSP00000432318
ENST00000530958	ENSP00000483338
ENST00000526567	ENSP00000480205
ENST00000525012
ENST00000533526
ENST00000531525	ENSP00000434327
ENST00000533733
ENST00000524792
ENST00000531957
ENST00000533690
ENST00000534625
ENST00000529588	ENSP00000435524
ENST00000532765
ENST00000525537
ENST00000527389
ENST00000533979
ENST00000525056
ENST00000525178
ENST00000527181
ENST00000601453	ENSP00000469471

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 221 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	221 [view]
Protein-Protein	210 [view]
Protein-DNA	8 [view]
Protein-RNA	1 [view]
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004677	DNA-dependent protein kinase activity
GO:0005488	binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016303	1-phosphatidylinositol-3-kinase activity
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0016773	phosphotransferase activity, alcohol group as acceptor
GO:0032403	protein complex binding
GO:0035174	histone serine kinase activity
GO:0046983	protein dimerization activity
GO:0047485	protein N-terminus binding

Biological Process

GO:0000077	DNA damage checkpoint
GO:0000723	telomere maintenance
GO:0000724	double-strand break repair via homologous recombination
GO:0001666	response to hypoxia
GO:0001756	somitogenesis
GO:0002331	pre-B cell allelic exclusion
GO:0006281	DNA repair
GO:0006302	double-strand break repair
GO:0006468	protein phosphorylation
GO:0006915	apoptotic process
GO:0006974	cellular response to DNA damage stimulus
GO:0006975	DNA damage induced protein phosphorylation
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0007050	cell cycle arrest
GO:0007094	mitotic spindle assembly checkpoint
GO:0007131	reciprocal meiotic recombination
GO:0007165	signal transduction
GO:0007292	female gamete generation
GO:0007420	brain development
GO:0007507	heart development
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0010212	response to ionizing radiation
GO:0016572	histone phosphorylation
GO:0018105	peptidyl-serine phosphorylation
GO:0030889	negative regulation of B cell proliferation
GO:0035404	histone-serine phosphorylation
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process
GO:0042159	lipoprotein catabolic process
GO:0043065	positive regulation of apoptotic process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator
GO:0043525	positive regulation of neuron apoptotic process
GO:0046777	protein autophosphorylation
GO:0048599	oocyte development
GO:0051402	neuron apoptotic process
GO:0051726	regulation of cell cycle
GO:0071044	histone mRNA catabolic process
GO:0071480	cellular response to gamma radiation
GO:0072434	signal transduction involved in mitotic G2 DNA damage checkpoint
GO:0090399	replicative senescence

Cellular Component

GO:0000781	chromosome, telomeric region
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005819	spindle
GO:0016023	cytoplasmic membrane-bounded vesicle