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RefSeq Gene
## RefSeq Gene ATM RefSeq: NM_000051.2 Status: Reviewed CDS: completeness unknown
OMIM: 607585 Entrez Gene: 472 PubMed on Gene: ATM PubMed on Product: ataxia telangiectasia mutated protein isoform 1 GeneLynx ATM GeneCards: ATM AceView: ATM Stanford SOURCE: NM_000051
### Summary of ATM 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. At least three alternatively spliced transcript variants, which encode distinct isoforms, have been identified. ### mRNA/Genomic Alignments
     SIZE IDENTITY CHROMOSOME  STRAND    START     END              QUERY      START  END  TOTAL
    --------------------------------------------------------------------------------------------
     9881  100.0%         11     + 107599053 107741966             NM_000051     1  9881  9886
Position: chr11:107599053-107741966 Band: 11q22.3 Genomic Size: 142914 Strand: + ### Links to sequence: Predicted Protein mRNA Sequence may be different from the genomic sequence. Genomic Sequence from assembly View table schema ## Description The RefSeq Genes track shows known protein-coding genes taken from the NCBI mRNA reference sequences collection (RefSeq). On assemblies in which incremental GenBank downloads are supported, the data underlying this track are updated nightly. ## Display Conventions and Configuration This track follows the display conventions for gene prediction tracks. The color shading indicates the level of review the RefSeq record has undergone: predicted (light), provisional (medium), reviewed (dark). In some assemblies, non-coding RNA genes are shown in a separate track. The item labels and display colors of features within this track can be configured through the controls at the top of the track description page. This page is accessed via the small button to the left of the track's graphical display or through the link on the track's control menu. Label: By default, items are labeled by gene name. Click the appropriate Label option to display the accession name instead of the gene name, show both the gene and accession names, or turn off the label completely. Codon coloring: This track contains an optional codon coloring feature that allows users to quickly validate and compare gene predictions. To display codon colors, select the genomic codons option from the Color track by codons pull-down menu. Click here for more information about this feature. ## Methods RefSeq mRNAs were aligned against the human genome using blat; those with an alignment of less than 15% were discarded. When a single mRNA aligned in multiple places, the alignment having the highest base identity was identified. Only alignments having a base identity level within 0.1% of the best and at least 96% base identity with the genomic sequence were kept. ## Credits This track was produced at UCSC from mRNA sequence data generated by scientists worldwide and curated by the NCBI RefSeq project. ## References Kent, W.J. BLAT - the BLAST-like alignment tool. Genome Res. 12(4), 656-664 (2002). |