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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
ATM 472 Ataxia telangiectasia mutated  11AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
23154512   2012Cell line : -

Source : Vioxx in Colorectal Cancer study (VICTOR).

Sample Type : CRC tumor and Normal tissue

No. of Sample : 908

Stage : TNM Stage II,III

ImmunohistochemistryDown-regulation-Loss of ATM expression might serve as a biomarker of poor prognosis in colorectal cancer.

ATM activation is mediated by autophosphorylation of the serine residue at position 1981 in the ATM protein.

Chromosomal instability was not association with either H2AX or ATM.

22895193   2012Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

Exome sequencing, RNAseq and SNP array analysis.Mutation--

17000706   2006Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

SNP genotyping and data manipulation,Population stratification, Risk of CRC associated with nsSNPs aPolymorhpism-The two SNPs in ATM associated with risk of CRC, F858L and P1054R, are predicted to be deleterious.

Heterozygosity for P1054R is associated with decreased ATM expression in tumours.

22434045   2012Cell line : -

Source : Institute of Cancer Research/Royal Marsden Hospital NHS Trust (RMHNHST).

Sample Type : Population based case control study

No. of Sample : 2575 CRC and 2707 healthy control

Stage : -

-Unknown-For sustains low ROS levels in Colon Cancer cells, thereby restraining the activation of ATM and p53 in these cells.


Gene Details



Chromosome: 11; NC_000011.9 (108093559..108239826)

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Gene Type protein coding
Gene Family -
Description 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]  
Chromosome 11
Location 11q22-q23
Start 108222500  
End 108369102  
Strand +  
Gene Sequence

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Length 146603  
OMIM ID 607585   
HGNC ID HGNC:795   
Unigene ID Hs.367437    
Ensembl ID ENSG00000149311   
PharmGKB ID PA61   

mRNA Information


mRNA ID XM_011542855.1
Exon complement(1..139)  
mRNA Sequence

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Length 13147  



CDS Information


   
Location complement(1..37)
CDS Sequence

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CCDS ID CCDS41710.1



Protein Information


      
Protein IDNP_000042.3
Protein NameAtaxia telangiectasia mutated
Molecular Wt. (Da)350558
Protein Sequence

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Length 3056  
Uniprot IDP21549
Ensembl Protein ID ENSP00000302620  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation1981
SPhosphorylation440
SPhosphorylation1893
SPhosphorylation367
SPhosphorylation1987
TPhosphorylation72;-
SPhosphorylation85;-
TPhosphorylation86;-
TPhosphorylation1985;-
SPhosphorylation633;-
TPhosphorylation637;-
TPhosphorylation373;-
SPhosphorylation2996
SPhosphorylation1648
SPhosphorylation1993
SPhosphorylation645
SPhosphorylation800
SPhosphorylation809
SPhosphorylation1655
TPhosphorylation1662
SPhosphorylation307
TPhosphorylation314
SPhosphorylation1104

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
25ABL11809NP_009297.2in vitro;in vivo;yeast 2-hybrid91   681   179   168   116   
163AP2B13015AAH06201.1in vitro;in vivo;yeast 2-hybrid9707615   
672BRCA1218NP_009231.2in vitro;in vivo105   500   551   086   632   000   000   000   
1111CHEK14356NP_001265.2in vitro;in vivo1   139   064   211   252   890   
1385CREB1442NP_604391.1in vitro1   629   362   315   073   320   
1869E2F11806NP_005216.1in vitro11459832   
1978EIF4EBP13746NP_004086.1in vitro;in vivo98   068   821   114   665   300   000   000   
2177FANCD21968NP_149075.2in vitro;in vivo12086603   
3014H2AFX3465NP_002096.1in vivo94   887   231   189   348   900   000   000   
4193MDM21272NP_002383.2in vitro;in vivo11331603   
4194MDM44082NP_002384.2in vitro;in vivo1   578   853   616   163   380   
4361MRE11A2889NP_005582.1in vitro10608806   
4683NBN4050NP_002476.2in vitro;in vivo10   839   544   112   528   900   000   000   000   000   000   
5591PRKDC2941NP_008835.5in vitro10464290   
5830PEX52684NP_001124495.1in vivo;yeast 2-hybrid10567403   
5883RAD9A4788NP_004575.1in vitro;in vivo1   270   944   211   278   440   
5884RAD179124NP_579917.1in vitro;in vivo1   141   886   410   608   800   
5888RAD511557NP_597994.3in vitro;in vivo10212258   
5932RBBP84990AAH30590.1in vitro;in vivo1   091   036   511   689   930   
6009RHEB3188NP_005605.1in vitro15854902   
6794STK113740NP_000446.1in vitro;in vivo1   185   355   812   234   250   
7157TP531859NP_000537.3in vitro;in vivo97   651   991   155   193   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   
7158TP53BP15569NP_001135452.1in vitro;in vivo12697768   
7486WRN5212NP_000544.2in vitro106   088   061   125   289   000   000   000   
7507XPA2045NP_000371.1in vitro16540648   
7520XRCC58935NP_066964.1in vivo15758953   
8120AP3B23699NP_004635.2in vitro;yeast 2-hybrid9707615   
8243SMC1A2077NP_006297.2in vitro;in vivo11877377   
9521EEF1E110931NP_004271.1in vitro;in vivo15680327   
11073TOPBP19678NP_008958.2in vitro;in vivo11756551   
11200CHEK25084NP_001005735.1in vivo1   190   115   812   242   660   000   000   000   000   000   000   000   000   
11277TREX19423NP_569055.1in vivo15758953   


Pathway Information


                                                
Pathway Name Pathway ID
Apoptosis hsa04210
Cell cycle hsa04110
FoxO signaling pathway hsa04068
HTLV-I infection hsa05166
MicroRNAs in cancer hsa05206
NF-kappa B signaling pathway hsa04064
p53 signaling pathway hsa04115
Transcriptional misregulation in cancer hsa05202


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd051712683-2962  PIKKc_ATM
cl214532683-2962  PKc_like superfamily
cd051642683-2955  PIKKc
cd008922699-2961  PIKKc_ATR
smart001462715-2964  PI3Kc
cd051692683-2960  PIKKc_TOR
cd051702699-2961  PIKKc_SMG1
cd051722699-2960  PIKKc_DNA-PK
pfam004542715-2962  PI3_PI4_kinase
cd001422699-2955  PI3Kc_like
pfam116407-165  TAN
cl131447-165  TAN superfamily
cd008962699-2932  PI3Kc_III
cd051682716-3003  PI4Kc_III_beta
cd051632706-2927  PIKK_TRRAP
cd008932716-3003  PI4Kc_III
cd051672686-2954  PI4Kc_III_alpha
cd051742686-2939  PI3Kc_IA_delta
cd051732715-2953  PI3Kc_IA_beta
pfam022603026-3056  FATC
cl035053026-3056  FATC superfamily
cd051662720-2976  PI3Kc_II
cd051652852-2939  PI3Kc_I
cd008912720-2948  PI3Kc
cd008942852-2981  PI3Kc_IB_gamma
cd051752852-2915  PI3Kc_IA_alpha
cd051772704-2983  PI3Kc_C2_gamma
pfam022592097-2489  FAT
COG50322679-3055  TEL1


Ontology Information


   
HPRD ID5048
Molecular ClassSerine/threonine kinase
Molecular FunctionTransaminase activity (GO:0008483)
Biological ProcessMetabolism (GO:0008152); Energy pathways (GO:0006091)  



SNP Information


View SNP Geneview Report   

Drug Information


Uniprot ID DrugBank ID Name Type
Q13315DB00201CaffeineSmallMoleculeDrug

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO