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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:108,223,090-108,229,272)mRNA (may differ from genome)Protein (93 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGImyGene2PubMedUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATM
Diseases sorted by gene-association score: ataxia-telangiectasia* (1798), mantle cell lymphoma* (813), ataxia* (494), t-cell prolymphocytic leukemia* (443), primary immunodeficiency disease* (412), breast cancer* (367), chronic lymphocytic leukemia* (301), brca1 hereditary breast and ovarian cancer syndrome* (301), kidney cancer* (285), brca2 hereditary breast and ovarian cancer syndrome* (245), cerebellar ataxia* (245), ataxia-oculomotor apraxia 3* (179), ataxia and polyneuropathy, adult-onset* (179), renal cell carcinoma* (141), prolymphocytic leukemia (54), leukemia, b-cell, chronic (19), nijmegen breakage syndrome (19), bilateral breast cancer (18), lymphoma (17), telangiectasis (15), synchronous bilateral breast carcinoma (14), cll/sll (13), cerebellar disease (10), apraxia (9), bloom syndrome (9), richter's syndrome (9), adhesive otitis media (8), cerebellar degeneration (8), leukemia (8), sporadic breast cancer (8), xeroderma pigmentosum, group a (8), li-fraumeni syndrome (7), swayback (6), female breast cancer (6), lig4 syndrome (5), urethra adenocarcinoma (5), urethra clear cell adenocarcinoma (5), autosomal recessive cerebellar ataxia (5), fanconi anemia, complementation group a (5), urethral benign neoplasm (5), lymphoblastic leukemia (4), myxosarcoma (4), radiation cystitis (4), dyskinetic cerebral palsy (4), nodular malignant melanoma (4), spinal chordoma (4), lung cancer (2), colorectal cancer (2), asphyxiating thoracic dystrophy (2), lymphoma, non-hodgkin (1), nervous system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.48 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 244.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -69.60201-0.346 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021668 - TAN

Pfam Domains:
PF11640 - Telomere-length maintenance and DNA damage repair

ModBase Predicted Comparative 3D Structure on E9PRG7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004674 protein serine/threonine kinase activity

Biological Process:
GO:0000077 DNA damage checkpoint
GO:0000723 telomere maintenance
GO:0006281 DNA repair
GO:0010212 response to ionizing radiation
GO:0016572 histone phosphorylation
GO:0090399 replicative senescence


-  Descriptions from all associated GenBank mRNAs
  X91196 - H.sapiens mRNA for E14 and A-T proteins.
LF208492 - JP 2014500723-A/15995: Polycomb-Associated Non-Coding RNAs.
MA444069 - JP 2018138019-A/15995: Polycomb-Associated Non-Coding RNAs.
LF213954 - JP 2014500723-A/21457: Polycomb-Associated Non-Coding RNAs.
MA449531 - JP 2018138019-A/21457: Polycomb-Associated Non-Coding RNAs.
U33841 - Human ataxia telangiectasia (ATM) mRNA, complete cds.
LF377062 - JP 2014500723-A/184565: Polycomb-Associated Non-Coding RNAs.
MA612639 - JP 2018138019-A/184565: Polycomb-Associated Non-Coding RNAs.
AB209133 - Homo sapiens mRNA for ataxia telangiectasia mutated protein isoform 1 variant protein.
JD460703 - Sequence 441727 from Patent EP1572962.
BC061584 - Homo sapiens ataxia telangiectasia mutated, mRNA (cDNA clone IMAGE:6194499), complete cds.
JD350093 - Sequence 331117 from Patent EP1572962.
JD198496 - Sequence 179520 from Patent EP1572962.
JD153330 - Sequence 134354 from Patent EP1572962.
JD161677 - Sequence 142701 from Patent EP1572962.
JD547691 - Sequence 528715 from Patent EP1572962.
CU687498 - Synthetic construct Homo sapiens gateway clone IMAGE:100022727 5' read ATM mRNA.
KJ901294 - Synthetic construct Homo sapiens clone ccsbBroadEn_10688 ATM gene, encodes complete protein.
KR711389 - Synthetic construct Homo sapiens clone CCSBHm_00023344 ATM (ATM) mRNA, encodes complete protein.
KR711390 - Synthetic construct Homo sapiens clone CCSBHm_00023345 ATM (ATM) mRNA, encodes complete protein.
KR711391 - Synthetic construct Homo sapiens clone CCSBHm_00023348 ATM (ATM) mRNA, encodes complete protein.
LF377061 - JP 2014500723-A/184564: Polycomb-Associated Non-Coding RNAs.
MA612638 - JP 2018138019-A/184564: Polycomb-Associated Non-Coding RNAs.
LF377060 - JP 2014500723-A/184563: Polycomb-Associated Non-Coding RNAs.
MA612637 - JP 2018138019-A/184563: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  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

-  Other Names for This Gene
  Alternate Gene Symbols: AB209133, E9PRG7, E9PRG7_HUMAN, ENST00000532931.1, ENST00000532931.2, ENST00000532931.3, ENST00000532931.4, uc058hbk.1
UCSC ID: ENST00000532931.5
RefSeq Accession: NM_001351835
Protein: E9PRG7

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ATM:
ataxia-telangiectas (Ataxia-Telangiectasia)
ataxias (Hereditary Ataxia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.