ATM (NM_000051) - ATM serine/threonine kinase

Serine-Protein Kinase Atm Isoform A

Mutations Visualisation

Protein summary

This is preferred isoform of ATM protein.
ATM: serine-protein kinase ATM isoform a
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].

Strand
+
Chromosome
11
Protein
3056 residues
All mutations
1334
PTM sites
54
CDS
108,098,351 - 108,236,235
Transcription
108,093,558 - 108,239,826
25.1% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 472
Uniprot
Ensembl