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Atm Gene Detail
 Symbol
Name
ID
Atm
ataxia telangiectasia mutated homolog (human)
MGI:107202

Nomenclature History
Synonyms C030026E19Rik
Genetic Map
Chromosome 9
30.0 cM, cytoband C-D
Detailed Genetic Map ± 1 cM
 
Mapping data( 11)

Sequence Map
Chr9:53247254-53344845 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat; hamster, golden    (Mammalian Orthology)
Comparative Map (Mouse/Human Atm ± 2 cM)
TreeFam: TF101182
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000031707 VEGA Gene Model | MGI Sequence Detail 97592 C57BL/6J ± Kb
transcript NM_007499 RefSeq | MGI Sequence Detail 11964 C57BL/6
polypeptide Q62388 UniProt | EBI | MGI Sequence Detail 3066 Not Applicable
For the selected sequences
All sequences(32)
Alleles
and
phenotypes 		All alleles(17) : Targeted, knock-out(6) Targeted, other(1) Gene trapped(10)
Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (6)   Phenotype Images (8)  
Polymorphisms RFLP(3) SNPs within 2kb(246 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process brain development, cell cycle...
Component cytoplasmic vesicle, nucleoplasm...
Function ATP binding, binding...
External Resources: FuncBase
Expression Literature Summary: (13 records)
Data Summary: Assays (3)    Results (125)    Tissues (116)    Images (14)
Theiler Stages: 11,13,19,21,22,24,28
  Assay Type Assays   Results
      RNA in situ 3   125
cDNA source data(83)
External Resources: Allen Brain Atlas  GENSAT  GEO  ArrayExpress 
Molecular
reagents 		All nucleic(90) Genomic(4) cDNA(84) Primer pair(2)
Microarray probesets(2)
Other database
links
EC 2.7.11.1
Ensembl Gene Model ENSMUSG00000034218
DoTS DT.101722243, DT.110601795, DT.87068578, DT.87072152
Consensus CDS Project CCDS40636.1
UniGene 5088
DFCI TC1583806, TC1617112, TC1633837, TC1673775, TC1717969
NIA Mouse Gene Index U030870
Entrez Gene 11920
VEGA Gene Model OTTMUSG00000031707
International Mouse Knockout Project Status Atm
Protein
domains
InterPro ID Description
IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic
IPR003151 PIK-related kinase, FAT
IPR003152 PIK-related kinase, FATC
IPR011009 Protein kinase-like domain
IPR014009 PIK-related kinase
IPR015519 Ataxia-Telangiectasia Mutated
IPR016024 Armadillo-type fold
IPR018936 Phosphatidylinositol 3/4-kinase, conserved site
Graphical View of Protein Domain Structure
References
(Earliest) J:24773 Lane PW, "New mutants: Dancer, Athetoid, and mahogany" Mouse News Lett 1958;19():25
(Latest) J:155449 Buonomo SB et al., "Mammalian Rif1 contributes to replication stress survival and homology-directed repair." J Cell Biol 2009 Nov 2;187(3):385-98
All references(225)
Other
accession IDs 		MGD-MRK-35663, MGI:1924666, MGI:2143000
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
02/06/2010
MGI_4.32
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