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ATM ataxia telangiectasia mutated [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000051 Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. GenEZ ORF Cloning On-demand $4749.00 40

*Business Day

Related Services

Gene Symbol ATM
Entrez Gene ID 472
Full Name ataxia telangiectasia mutated
Synonyms AT1, ATA, ATC, ATD, ATDC, ATE, DKFZp781A0353, MGC74674, TEL1, TELO1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q22-q23

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].
Disorder

MIM: 607585

Ataxia-telangiectasia, 208900 (3); Lymphoma, B-cell non-Hodgkin,

mRNA Protein Product Sequence Price Select
NM_000051, 71902539 NP_000042, 71902540 serine-protein kinase ATM ORF Sequence $4500.00
KEGG
hsa04110Cell cycle
hsa04210Apoptosis
hsa05202Transcriptional misregulation in cancer
hsa05166HTLV-I infection
hsa_M00295BRCA1-associated genome surveillance complex (BASC)
hsa04064NF-kappa B signaling pathway
hsa04115p53 signaling pathway
Pathway Interaction Database
p53regulationpathwayp53 pathway
e2f_pathwayE2F transcription factor network
p38_mkk3_6pathwayp38 MAPK signaling pathway
nfkappabcanonicalpathwayCanonical NF-kappaB pathway
telomerasepathwayRegulation of Telomerase
bard1pathwayBARD1 signaling events
WikiPathways
WP34Ovarian Infertility Genes
WP1971Integrated Cancer pathway
WP1742TP53 network
WP710DNA damage response (only ATM dependent)
WP2261Signaling Pathways in Glioblastoma
WP1545miRNAs involved in DDR
WP1984Integrated Breast Cancer Pathway
WP179Cell cycle
WP2377Integrated Pancreatic Cancer Pathway
WP707DNA damage response
WP186Homologous recombination
WP2256Integrated Pancreatic Cancer Pathway
WP45G1 to S cell cycle control
Reactome
REACT_97Recruitment of repair and signaling proteins to double-strand breaks
REACT_828G2/M Checkpoints
REACT_1208p53-Independent G1/S DNA damage checkpoint
REACT_1625p53-Dependent G1 DNA Damage Response
REACT_18410Fanconi Anemia pathway
REACT_2254G1/S DNA Damage Checkpoints
REACT_2160p53-Independent DNA Damage Response
REACT_85p53-Dependent G1/S DNA damage checkpoint
REACT_204ATM mediated response to DNA double-strand break
REACT_1614Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
REACT_1587Homologous recombination repair of replication-independent double-strand breaks
REACT_2054Double-Strand Break Repair
REACT_1924ATM mediated phosphorylation of repair proteins
REACT_1538Cell Cycle Checkpoints
REACT_111183Meiosis
REACT_27271Meiotic Recombination
REACT_20549Autodegradation of the E3 ubiquitin ligase COP1
REACT_1874Homologous Recombination Repair
REACT_115566Cell Cycle
REACT_216DNA Repair
REACT_18265Regulation of the Fanconi anemia pathway
REACT_309Stabilization of p53
REACT_897G2/M DNA damage checkpoint
Homo sapiens (human)ATMNP_000042.3
Pan troglodytes (chimpanzee)ATMXP_001139405.2
Macaca mulatta (Rhesus monkey)ATMXP_002799825.1
Canis lupus familiaris (dog)ATMNP_001124300.1
Bos taurus (cattle)ATMNP_001192864.1
Mus musculus (house mouse)AtmNP_031525.2
Rattus norvegicus (Norway rat)AtmNP_001100291.1
Gallus gallus (chicken)ATMNP_001155872.1
Danio rerio (zebrafish)atmXP_002664603.2
GeneCards ATM
UniProt Q13315
MIM 607585
Ensembl ENSG00000149311
HGNC 795
HPRD 06347

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
serine-protein kinase ATM
Names
serine-protein kinase ATM
AT mutated
A-T mutated
TEL1, telomere maintenance 1, homolog
NP_000042.3

Interactant



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