Human Gene ATM (ENST00000532931.5) from GENCODE V44
Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt E9PRG7) RefSeq Summary (NM_001351835): 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]. Gencode Transcript: ENST00000532931.5 Gencode Gene: ENSG00000149311.20 Transcript (Including UTRs) Position: hg38 chr11:108,223,090-108,229,272 Size: 6,183 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr11:108,227,625-108,229,272 Size: 1,648 Coding Exon Count: 3
ID:E9PRG7_HUMAN DESCRIPTION: SubName: Full=Serine-protein kinase ATM; Flags: Fragment; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF11640 - Telomere-length maintenance and DNA damage repair
ModBase Predicted Comparative 3D Structure on E9PRG7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04110 - Cell cycle hsa04115 - p53 signaling pathway hsa04210 - Apoptosis
BioCarta from NCI Cancer Genome Anatomy Project h_cdc25Pathway - cdc25 and chk1 Regulatory Pathway in response to DNA damage h_rbPathway - RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage h_atrbrcaPathway - Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility h_p53Pathway - p53 Signaling Pathway h_atmPathway - ATM Signaling Pathway h_chemicalPathway - Apoptotic Signaling in Response to DNA Damage h_g1Pathway - Cell Cycle: G1/S Check Point h_p53hypoxiaPathway - Hypoxia and p53 in the Cardiovascular system h_g2Pathway - Cell Cycle: G2/M Checkpoint h_plk3Pathway - Regulation of cell cycle progression by Plk3