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:
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).
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