ATM Gene
protein-coding GIFtS : 76
GCID: GC11 P108093
ataxia telangiectasia mutated (Previous names: ataxia telangiectasia mutated (includes complementation... ) (Previous symbols: ATA, ATDC, ATC, ATD )
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Aliasesfor ATM gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Ataxia Telangiectasia Mutated 1 2 3 EC 2.7.11.13 8 ATA1 2 5 AT12 5 ATC1 2 Ataxia Telangiectasia Mutated (Includes Complementation Groups A, C And D)1 ATD1 2 ATE2 ATDC1 2 AT Mutated2 TEL11 2 Serine-Protein Kinase ATM2 TELO11 2 TEL1, Telomere Maintenance 1, Homolog2 A-T Mutated2 3
Export aliases for ATM gene to outside databases Previous GC identifers: GC11P110302 GC11P109450 GC11P108127 GC11P107631 GC11P107599 GC11P104019
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Summariesfor ATM gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for 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. (provided by RefSeq, Aug 2010) UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315 Function : Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs),apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation summary
for ATM : ATM (Ataxia telangiectasia mutated) and ATR (Ataxia telangiectasia and Rad3 related) are closely relatedkinases that are activated by DNA damage. These serine-threonine protein kinases are part of thephosphatidylinositol 3' kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage bindingproteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint byphosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest andeither DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilstATR is activated by single strand breaks and phosphorylates Chk1. Gene Wiki entry for ATM (Ataxia telangiectasia mutated)
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Genomic Viewsfor ATM gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000011.9 NC_018922.1 NT_033899.8 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ATM gene promoter: CREB AP-1 deltaCREB ATF-2 c-Jun STAT5A Other transcription factors Search SABiosciences Chromatin IP Primers for ATM Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ATM
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 11q22-q23 Ensembl cytogenetic band: 11q22.3 HGNC cytogenetic band: 11q22-q23 ATM Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 11 GeneLoc Exon Structure
GeneLoc location for GC11P108093: view genomic region
(about GC identifiers )
Start:
108,093,211 bp from pter
End:
108,239,829 bp from pter
Size:
146,619 bases
Orientation:
plus strand
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Proteinsfor ATM gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315 (See
protein sequence )Recommended Name: Serine-protein kinase ATM Size : 3056 amino acids; 350714 Da
Subunit : Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomersrendering them catalytically active. Binds p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with RAD17; DNA damage promotes the association. Interacts with EEF1E1; the interaction, induced on DNA damage, up-regulates TP53. Interacts with DCLRE1C, KAT8, KAT5, NABP2, ATMIN and CEP164. Interacts with AP2B1 and AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity). Interacts with TELO2 and TTI1. Interacts with DDX1
Subcellular location : Nucleus. Cytoplasmic vesicle. Note=Primarily nuclear. Found also in endocytic vesicles inassociation with beta-adaptin
Sequence caution : Sequence=AAA86520.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=AAA86520.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAI37170.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI37170.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=EAW67111.1; Type=Erroneous gene model prediction;
Secondary accessions : B2RNX5 O15429 Q12758 Q16551 Q93007 Q9NP02 Q9UCX7Explore the universe of human proteins at neXtProt for ATM: NX_Q13315 Post-translational modifications:
Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated activation of the kinase1
Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and subsequent autophosphorylation on Ser-1981. Acetylated in vitro by KAT5/TIP601
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q13315 4/6 DME Specific Peptides for ATM (Q13315 ) (see all 6 )ATM Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000042.3 ENSEMBL proteins: ENSP00000435747 ENSP00000433955 ENSP00000432318 ENSP00000388058 ENSP00000432560 ENSP00000431839 ENSP00000434327 ENSP00000435524 ENSP00000278616 Reactome Protein details: Q13315 Human Recombinant Protein Products: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
ATM for ontologies About GeneDecksing ATM Antibody Products: Assay Products for ATM:
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Protein
Domains / Familiesfor ATM gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ATM for domains About GeneDecksing 5/9 InterPro domains/families (see all 9 ):
Graphical View of Domain Structure for InterPro Entry Q13315 ProtoNet protein and cluster: Q13315
2 Blocks protein families : IPB000403 Phosphatidylinositol 3- and 4-kinase IPB003151 PIK-related kinase UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315 Domain : The FATC domain is required for interaction with KAT5Similarity : Belongs to the PI3/PI4-kinase family. ATM subfamilySimilarity : Contains 1 FAT domainSimilarity : Contains 1 FATC domainSimilarity : Contains 1 PI3K/PI4K domain
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Functionfor ATM gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315 Function : Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs),apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation Catalytic activity : ATP + a protein = ADP + a phosphoproteinEnzyme regulation : Inhibited by wortmanninInduction : By ionizing radiation
Genatlas biochemistry entry for ATM : ataxia telangiectasia,mutated,protein kinase,involved in cellular responses to ionizing radiation (IR)-induced DNA damage such as double strand breaks and cell cycle control through phosphorylation of BRCA1,homologous to cell cycle G2 checkpoint gene yeast MEC1 and related TEL1,RAD3 (S pombe),Drosophila mei-41,also homologous to yeast TOR1,TOR2, activating TP53 in association with 14.3.3 proteins YWHA*,and leading to cell cycle arrest and apoptosis,also activating ABL1 (cABL) and TP73 in a mismatch repair dependent apoptosis pathway,interacting with beta adaptin for the axonal transport and vesicle trafficking in the central nervous system,mutated (somatic mutation) in B cell chronic lymphocytic leukemia,also mutated in ataxia telangiectasia (see AT),but not mutated in childhood T-ALL,deleted in mantle cell lymphoma (see also TSG11F) Enzyme Number (IUBMB): EC 2.7.11.1 1 2 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ATM (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ATM (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ATM (NM_000051 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATM Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ATM
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATM
Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11 ): About this table
ATM for ontologies About GeneDecksing 4 GenomeRNAi human phenotypes for ATM :Animal Models: Mouse knock-outs for ATM: Atm tm1Pmc Atm tm1Awb Atm tm1Led Atm tm1Bal Atm tm1Fwa Atm tm1Mfl 12 MGI mutant phenotypes (inferred from 10 alleles ) (MGI details for Atm) :
ATM for phenotypes About GeneDecksing
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Pathways & Interactionsfor ATM gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/44 super-pathways (see all 44 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Ubiquitinated Orc1 is degraded by the proteasome 2 Fanconi Anemia pathway 3 Chks in Checkpoint Regulation 4 Formation of Meiotic Holliday Junction 5 Apoptotic Pathways in Synovial Fibroblasts
Pathway sources See GeneCards unified pathways Show all pathways 5 EMD Millipore Pathways for ATM 5/17 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATM (see all 17 )2
Cell Signaling Technology (CST) Pathways for ATM 1 Tocris Bioscience Pathway for ATM 5 GeneGo (Thomson Reuters) Pathways for ATM 5/19 BioSystems Pathways for ATM (see all 19 ) 5/27
Reactome Pathways for ATM (see all 27 )1 PharmGKB Pathway for ATM 3
Kegg Pathways (Kegg details for ATM) :
ATM for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATM STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/680 Interacting proteins for ATM (Q13315 1 , 2 , 3 ENSP00000278616 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 680 )Interactant Interaction Details GeneCard External ID(s) ATMIN O43313 2 , 3 , ENSP00000299575 4 MINT-4979579 MINT-4979598 MINT-4979635 MINT-4979556 MINT-4979615 I2D:
score=1 STRING: ENSP00000299575 H2AFX P16104 2 , 3 , ENSP00000364310 4 MINT-2843419 I2D:
score=6 STRING: ENSP00000364310 TP53 P04637 2 , 3 , ENSP00000269305 4 MINT-49767 I2D:
score=6 STRING: ENSP00000269305 MDC1 Q14676 1 , 3 , ENSP00000365588 4 EBI-1059333,EBI-495644 I2D:
score=4 STRING: ENSP00000365588 PRKDC P78527 2 , 3 , ENSP00000313420 4 MINT-7945693 I2D:
score=3 STRING: ENSP00000313420
About this table Gene Ontology (GO): 5/40 biological process terms (GO ID links to tree view) (see all 40 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000075 cell cycle checkpoint
TAS -- GO:0000077 DNA damage checkpoint
-- -- GO:0000723 telomere maintenance
IEA -- GO:0000724 double-strand break repair via homologous recombination
TAS -- GO:0001666 response to hypoxia
IEA --
ATM for ontologies About GeneDecksing
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Drugs & Compoundsfor ATM gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
ATM for compounds About GeneDecksing Compounds for ATM available from Tocris Bioscience About this table Compound Action
CAS
# KU 55933 Potent and selective ATM kinase inhibitor [587871-26-9] KU 60019 Potent ATM kinase inhibitor [925701-46-8] CGK 733 Selective inhibitor of ATR and ATM kinases [905973-89-9] Mirin MRN-ATM pathway inhibitor --
2 HMDB Compounds for ATM About this table 10/46 Novoseek chemical compound relationships for ATM gene (see all 46 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
phosphatidylinositol
58.6
27
11114307 (1), 17507690 (1), 9442910 (1), 12513844 (1) (see all 24 )
wortmannin
56.5
24
10771089 (3), 15173573 (2), 9808536 (2), 15709017 (1) (see all 14 )
neocarzinostatin
50.7
3
15345673 (1), 9244351 (1), 9050866 (1)
caffeine
50.2
33
10485486 (4), 16479016 (2), 11864911 (2), 10744722 (2) (see all 19 )
aphidicolin
46.5
5
11279043 (1), 11114888 (1)
hydroxyurea
43.4
6
11689451 (1), 16293623 (1), 11114888 (1)
topotecan
35.2
11
18802408 (3), 16426422 (3), 16760673 (2), 16184611 (1)
camptothecin
32.1
15
20304914 (5), 15699047 (2), 16158199 (1), 10327072 (1)
mitoxantrone
30.9
10
16760673 (4), 18802408 (3), 16184611 (1), 19411853 (1)
ly294002
30.4
8
10771089 (3), 18589211 (1), 19038232 (1)
Search CenterWatch for drugs/clinical trials and news about ATM
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Transcriptsfor ATM gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for ATM gene (3 alternative transcripts): NM_000051.3 NM_138292.3 NM_138293.1 Unigene Cluster for ATM:
Ataxia telangiectasia mutated Hs.367437 [show with all ESTs ] Unigene Representative Sequence: NM_000051 18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26 ): ENST00000527805 (uc009yxs.1 ) ENST00000527891 ENST00000532931 ENST00000530958 ENST00000452508 (uc001pke.2 ) ENST00000526567 (uc001pkc.1 ) ENST00000525012 ENST00000533526 ENST00000532637 ENST00000533470 ENST00000419286 ENST00000531525 (uc001pkf.3 )ENST00000533733 (uc001pkd.4 ) ENST00000524792 ENST00000531957 ENST00000533690 (uc009yxt.1 uc001pkg.1 )ENST00000534625 ENST00000529588 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ATM (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ATM (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ATM (NM_000051 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATM Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ATM
Additional cDNA sequence: AF035326.1 AF035327.1 AF035328.1 AK093586.1 AK299843.1 BC007023.2 BC022306.1 BC061584.1 BC152385.1 BC152389.1 BT006764.1 BX640631.1 CR749436.1 HM437232.1 U33841.1 U67093.1 X91196.1 Y08455.1
21 DOTS entries : DT.102832095 DT.100750015
DT.91916232 DT.91717023 DT.101977439 DT.99971554 DT.121643246 DT.451837 DT.100750014 DT.99928041 DT.120760397 DT.65284599 DT.97778369 DT.120760409 DT.120760428 DT.40122485 DT.75194025 DT.91664691 DT.97825561 DT.120760412 DT.99957611 200 AceView cDNA sequences (see top 24 ):
AA149504 CD721939 BM671057 BC007023 BQ005085 AA632114 BX096702 AK093586 AA421745 AI523344 BM800438 AA814352 R26821 AL706720 AI559463 AA782580 BX642224 AA962359 AV705298 AI479273 BF981497 U26455 BM451149 AA149636 BM701900 NM_138292 BC061584 BX644571 AA890626 N49371 U33841 BQ722775 AA236739 BX504088 BM697241 CA392919 NM_000051 BG942504 BF509168 BU501514 CD688813 AA758033 BU940983 N63106 BQ008780 BE793538 AI364158 AA309675 AI275446 BX488148 U67093 N27202 BV200566 BM920815 BF857805 AA642025 BX640631 BQ323144 AA932957 BV200567 AI150723 BE535419 BC022306 AA741003 BM718157 BE219573 BV195542 AW207030 CB148120 CA390307 AI692529 BM152572 CB158847 BG288159 BQ878068 BX508551 AW131455 AA810181 AW085044 CD695363 AW903409 AA741440 BM704435 AI262879 CD607257 AA758312 BV200569 CF136519 BV199267 AI698087 AI804535 NM_138293 AW085624 BU736597 AA689605 BX487662 AI269311 CD607259 BC022307 BV199266 AW866272 BE780611 BU165893 AA830215 AF035328 AI819010 BG105298 AA760702 CR749436 BG105238 BT006764 X91196 AA007545 AW166609 AI333823 BQ881327 BX474549 BX641316 AA814260 AI452525 BI767650 AA810254 BV200568 AI695703 AA236914 AW292242 AI819569 AL046100 H00707 BE008054 AA252983 AI148520 AI381641 AA715291 BV199265 CD102146 AI167315 AW500637 CD691707 AW501813 BE541772 AI800069 N39946 N50293 AA665481 AA016254 BE550215 AI358546 N47080 AV724386 AW839133 AW954689 AI735237 AA252957 AI868304 BE929572 AW167998 N49270 BF576699 BG623786 H00813 N89611 AI352462 CF143679 CB958328 BG537034 BU735922 AA252982 AA016988 CD707918 R71528 CD686703 AA313449 AW888781 H43382 AW888776 BE815377 AL048437 BE974106 AA019493 AA174148 AA253125 AA809961 AW950990 W16980 BF185202 BE931864 BQ323071 BQ323142 AI744184 BF753508 H43328 T88756 AA019014 R26019 AW189887 BQ323082 BQ323072 AI565374 BQ293130 GeneLoc Exon Structure
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Expression for ATM gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section ATM expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image ATM expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See ATM Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ATM SOURCE GeneReport for Unigene cluster: Hs.367437 UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315 Tissue specificity : Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus,testis, ovary, small intestine, colon and leukocytes SABiosciences Expression via Pathway-Focused PCR Arrays including ATM (see all 13 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ATMBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ATM QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ATM QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ATM In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATM
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Orthologsfor ATM gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for ATM gene from 7/26 species (see all 26 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
ATM1
ataxia telangiectasia mutated
72.23(n) 69.69(a)
 
395401 NM_001162400.1 NP_001155872.1
lizard (Anolis carolinensis)
Reptilia
--
--
87(a)
1 ↔ 1
5(124957040-124966704)
African clawed frog (Xenopus laevis)
Amphibia
ATM2
ataxia telangiectasia mutated
75.21(n)
 
AF174488.1
zebrafish (Danio rerio)
Actinopterygii
Dr.286552
Danio rerio partial mRNA for ataxia telangiectasia more
73.34(n)
 
AJ605775.1
fruit fly (Drosophila melanogaster)
Insecta
CG65353
cell cycle checkpoint protein kinase
27(a)
 
--
thale cress (Arabidopsis thaliana)
eudicotyledons
ATM6
serine/threonine-protein kinase
16(a)
1 ↔ 1
3(17797334-17828591)
rice (Oryza sativa)
Liliopsida
Os.170832
Oryza sativa (japonica cultivar-group) AtATM like protein more
75(n)
 
NM_183488.1
ENSEMBL Gene Tree for ATM (if available)TreeFam Gene Tree for ATM (if available)
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Paralogsfor ATM gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ATM gene 2 SIMAP similar genes for ATM using alignment to 16 protein entries: ATM_HUMAN (see all proteins ):DKFZp781A0353 MTOR
ATM for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for ATM PGOHUM00000233233
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Genomic Variantsfor ATM gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 11 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ATM (108093211 - 108239829 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ATM: -- Human Gene Mutation Database (HGMD) : ATM Locus Specific Mutation Databases (LSDB): ATM 5/6 SABiosciences Cancer Mutation PCR Assays for ATM (see all 6 ):
5 SABiosciences Cancer Mutation PCR Arrays containing ATM :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ATM
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Disorders
/ Diseasesfor ATM gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
ATM for disorders About GeneDecksing OMIM gene information: 607585 OMIM disorders : 208900 114480 UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
Defects in ATM are the cause of ataxia telangiectasia (AT) [MIM:208900]; also known as Louis-Bar syndrome, which includes four complementation groups: A, C, D and E. This rare recessive disorder is characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. AT patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation Note=Defects in ATM contribute to T-cell acute lymphoblastic leukemia (TALL) and T-prolymphocytic leukemia (TPLL). TPLL is characterized by a high white blood cell count, with a predominance of prolymphocytes, marked splenomegaly, lymphadenopathy, skin lesions and serous effusion. The clinical course is highly aggressive, with poor response to chemotherapy and short survival time. TPLL occurs both in adults as a sporadic disease and in younger AT patients Note=Defects in ATM contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL) Note=Defects in ATM contribute to B-cell chronic lymphocytic leukemia (BCLL). BCLL is the commonest form of leukemia in the elderly. It is characterized by the accumulation of mature CD5+ B-lymphocytes, lymphadenopathy, immunodeficiency and bone marrow failure 20/140 diseases for ATM (see all 140 ): About MalaCards ataxia telangiectasia ataxia lymphoma, b-cell non-hodgkin, somatic li-fraumeni syndrome cll/sll nijmegen breakage syndrome-like disorder nijmegen breakage syndrome marginal zone b-cell lymphoma t-cell prolymphocytic leukemia, sporadic xeroderma pigmentosum, group a b-cell non-hodgkin lymphoma diffuse large b-cell lymphoma t-cell prolymphocytic leukemia human t-cell leukemia virus type 1 spinal cord disease prolymphocytic leukemia non-hodgkin lymphoma b-cell lymphomas asphyxiating thoracic dystrophy xeroderma pigmentosum 10 diseases from the University of Copenhagen DISEASES database for ATM :Ataxia telangiectasia Nijmegen breakage syndrome Breast cancer Genetic disorder Telangiectasis Cerebellar ataxia Leukemia Lymphoma Fanconi's anemia Seckel syndrome 10/89 Novoseek disease relationships for ATM gene (see all 89 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
ataxia telangiectasia
98.2
473
9622061 (3), 16799570 (3), 7545545 (2), 8843194 (2) (see all 99 )
nijmegen breakage syndrome
87.5
20
15024084 (1), 17507690 (1), 18215521 (1), 18723444 (1) (see all 17 )
cerebellar degeneration
77.4
4
9054948 (1), 9770541 (1), 8968760 (1), 11443540 (1)
telangiectasia
70.7
13
12882767 (4), 18502988 (2), 19799357 (1), 12513844 (1) (see all 8 )
genetic disorder
69.8
40
10549596 (2), 7545545 (1), 9535798 (1), 10567403 (1) (see all 39 )
lymphocytic leukemia chronic b-cell
65.4
16
11468183 (2), 9892178 (1), 9788599 (1), 10738255 (1) (see all 14 )
cancer
63.5
122
12513844 (4), 18565893 (4), 12195425 (3), 15390180 (3) (see all 83 )
leukemia prolymphocytic
62.7
8
9573030 (2), 10738255 (1), 12149228 (1), 18073348 (1) (see all 7 )
bilateral breast cancer
60.9
10
19153073 (3), 12673797 (1), 14562025 (1), 15756685 (1) (see all 5 )
fanconis anemia
59.3
1
11733219 (1)
GeneTests: ATM Ataxia-Telangiectasia Genetic Association Database (GAD): ATM Human Genome Epidemiology (HuGE) Navigator: ATM (170 documents) Tumor Gene Database (TGDB) : ATM Export disorders for ATM gene to outside databases
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Publicationsfor ATM gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ATM gene, integrated from 9 sources (see all 1345 ): (articles sorted by number of sources associating them with ATM) Utopia : connect your pdf to the dynamic world of online information
Mutations associated with variant phenotypes in ataxia- telangiectasia. (PubMed id 8755918) 1 , 2 , 4 McConville C.M.... Taylor A.M.R. (1996) ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects. (PubMed id 11849780) 1 , 4, 9 Iannuzzi C.M....Rosenstein B.S. (2002) Inactivation of the ATM gene in T-cell prolymphocytic leukemias. (PubMed id 9573030) 1 , 2 , 9 Stoppa-Lyonnet D.... Stern M.-H. (1998) Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene. (PubMed id 9199932) 1 , 2 , 9 Platzer M.... Rosenthal A. (1997) The product of the ATM gene is a 370-kDa nuclear phosphoprotein. (PubMed id 8969240) 1 , 2 , 9 Chen G. and Lee E.Y.-H.P. (1996) DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity. (PubMed id 17923702) 1 , 2 , 9 Sun Y....Price B.D. (2007) Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. (PubMed id 10873394) 1 , 2 , 9 Becker-Catania S.G.... Gatti R.A. (2000) Mantle cell lymphoma is characterized by inactivation of the ATM gene. (PubMed id 10706620) 1 , 2 , 9 Schaffner C.... Lichter P. (2000) Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. (PubMed id 10397742) 1 , 2 , 9 Schaffner C.... Lichter P. (1999) Genotype-phenotype relationships in ataxia-telangiectasia and variants. (PubMed id 9497252) 1 , 2 , 9 Gilad S.... Bar-Shira A. (1998)
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External Searches for ATM gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ATM gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing ATM gene
(According to HUGE )
About This Section --
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Specialized Databases showing ATM gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for ATM Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for ATM Genetics and Cytogenetics in Oncology and Haematology GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATM NIEHS-SNPs http://egp.gs.washington.edu/data/atm/ Wikipedia http://en.wikipedia.org/wiki/Ataxia_telangiectasia_mutated
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About This Section Patent Information for ATM gene: Search GeneIP for patents involving ATM GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ATM gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for ATM OriGene shRNA RFP for ATM OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ATM OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ATM Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ATM OriGene 3'-UTR Clone for ATM OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ATM OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ATM Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ATM OriGene Custom Protein Services for ATM OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATM QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ATM QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ATM QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ATM QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ATM QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ATM
Antibodies & Assays for ATM  
Tocris compounds for ATM
ATM Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATM
ThermoFisher Antibody for ATM
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ATM
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