Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| ATM | 472 | Ataxia telangiectasia mutated  | 11 | AT1; 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    | 2012 | Cell line : - Source : Vioxx in Colorectal Cancer study (VICTOR). Sample Type : CRC tumor and Normal tissue No. of Sample : 908 Stage : TNM Stage II,III | Immunohistochemistry | Down-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    | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | Exome sequencing, RNAseq and SNP array analysis. | Mutation | - | - |
| 17000706    | 2006 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | SNP genotyping and data manipulation,Population stratification, Risk of CRC associated with nsSNPs a | Polymorhpism | - | 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    | 2012 | Cell 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

| 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 |    Download   Select all |
| 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 |    Download   Select all |
| Length | 13147   |
CDS Information
| Location | complement(1..37) |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS41710.1 |    
Protein Information
| Protein ID | NP_000042.3 |
|---|---|
| Protein Name | Ataxia telangiectasia mutated |
| Molecular Wt. (Da) | 350558 |
| Protein Sequence |    Download   Select all |
| Length | 3056   |
| Uniprot ID | P21549 |    
| Ensembl Protein ID | ENSP00000302620   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 1981 |
| S | Phosphorylation | 440 |
| S | Phosphorylation | 1893 |
| S | Phosphorylation | 367 |
| S | Phosphorylation | 1987 |
| T | Phosphorylation | 72;- |
| S | Phosphorylation | 85;- |
| T | Phosphorylation | 86;- |
| T | Phosphorylation | 1985;- |
| S | Phosphorylation | 633;- |
| T | Phosphorylation | 637;- |
| T | Phosphorylation | 373;- |
| S | Phosphorylation | 2996 |
| S | Phosphorylation | 1648 |
| S | Phosphorylation | 1993 |
| S | Phosphorylation | 645 |
| S | Phosphorylation | 800 |
| S | Phosphorylation | 809 |
| S | Phosphorylation | 1655 |
| T | Phosphorylation | 1662 |
| S | Phosphorylation | 307 |
| T | Phosphorylation | 314 |
| S | Phosphorylation | 1104 |
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 |
|---|---|---|---|---|---|
| 25 |    ABL1 |    1809 |    NP_009297.2 |    in vitro;in vivo;yeast 2-hybrid |    91   681   179   168   116    |
| 163 |    AP2B1 |    3015 |    AAH06201.1 |    in vitro;in vivo;yeast 2-hybrid |    9707615    |
| 672 |    BRCA1 |    218 |    NP_009231.2 |    in vitro;in vivo |    105   500   551   086   632   000   000   000    |
| 1111 |    CHEK1 |    4356 |    NP_001265.2 |    in vitro;in vivo |    1   139   064   211   252   890    |
| 1385 |    CREB1 |    442 |    NP_604391.1 |    in vitro |    1   629   362   315   073   320    |
| 1869 |    E2F1 |    1806 |    NP_005216.1 |    in vitro |    11459832    |
| 1978 |    EIF4EBP1 |    3746 |    NP_004086.1 |    in vitro;in vivo |    98   068   821   114   665   300   000   000    |
| 2177 |    FANCD2 |    1968 |    NP_149075.2 |    in vitro;in vivo |    12086603    |
| 3014 |    H2AFX |    3465 |    NP_002096.1 |    in vivo |    94   887   231   189   348   900   000   000    |
| 4193 |    MDM2 |    1272 |    NP_002383.2 |    in vitro;in vivo |    11331603    |
| 4194 |    MDM4 |    4082 |    NP_002384.2 |    in vitro;in vivo |    1   578   853   616   163   380    |
| 4361 |    MRE11A |    2889 |    NP_005582.1 |    in vitro |    10608806    |
| 4683 |    NBN |    4050 |    NP_002476.2 |    in vitro;in vivo |    10   839   544   112   528   900   000   000   000   000   000    |
| 5591 |    PRKDC |    2941 |    NP_008835.5 |    in vitro |    10464290    |
| 5830 |    PEX5 |    2684 |    NP_001124495.1 |    in vivo;yeast 2-hybrid |    10567403    |
| 5883 |    RAD9A |    4788 |    NP_004575.1 |    in vitro;in vivo |    1   270   944   211   278   440    |
| 5884 |    RAD17 |    9124 |    NP_579917.1 |    in vitro;in vivo |    1   141   886   410   608   800    |
| 5888 |    RAD51 |    1557 |    NP_597994.3 |    in vitro;in vivo |    10212258    |
| 5932 |    RBBP8 |    4990 |    AAH30590.1 |    in vitro;in vivo |    1   091   036   511   689   930    |
| 6009 |    RHEB |    3188 |    NP_005605.1 |    in vitro |    15854902    |
| 6794 |    STK11 |    3740 |    NP_000446.1 |    in vitro;in vivo |    1   185   355   812   234   250    |
| 7157 |    TP53 |    1859 |    NP_000537.3 |    in vitro;in vivo |    97   651   991   155   193   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000    |
| 7158 |    TP53BP1 |    5569 |    NP_001135452.1 |    in vitro;in vivo |    12697768    |
| 7486 |    WRN |    5212 |    NP_000544.2 |    in vitro |    106   088   061   125   289   000   000   000    |
| 7507 |    XPA |    2045 |    NP_000371.1 |    in vitro |    16540648    |
| 7520 |    XRCC5 |    8935 |    NP_066964.1 |    in vivo |    15758953    |
| 8120 |    AP3B2 |    3699 |    NP_004635.2 |    in vitro;yeast 2-hybrid |    9707615    |
| 8243 |    SMC1A |    2077 |    NP_006297.2 |    in vitro;in vivo |    11877377    |
| 9521 |    EEF1E1 |    10931 |    NP_004271.1 |    in vitro;in vivo |    15680327    |
| 11073 |    TOPBP1 |    9678 |    NP_008958.2 |    in vitro;in vivo |    11756551    |
| 11200 |    CHEK2 |    5084 |    NP_001005735.1 |    in vivo |    1   190   115   812   242   660   000   000   000   000   000   000   000   000    |
| 11277 |    TREX1 |    9423 |    NP_569055.1 |    in vivo |    15758953    |
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 |
|---|---|---|
| cd05171 | 2683-2962  | PIKKc_ATM |
| cl21453 | 2683-2962  | PKc_like superfamily |
| cd05164 | 2683-2955  | PIKKc |
| cd00892 | 2699-2961  | PIKKc_ATR |
| smart00146 | 2715-2964  | PI3Kc |
| cd05169 | 2683-2960  | PIKKc_TOR |
| cd05170 | 2699-2961  | PIKKc_SMG1 |
| cd05172 | 2699-2960  | PIKKc_DNA-PK |
| pfam00454 | 2715-2962  | PI3_PI4_kinase |
| cd00142 | 2699-2955  | PI3Kc_like |
| pfam11640 | 7-165  | TAN |
| cl13144 | 7-165  | TAN superfamily |
| cd00896 | 2699-2932  | PI3Kc_III |
| cd05168 | 2716-3003  | PI4Kc_III_beta |
| cd05163 | 2706-2927  | PIKK_TRRAP |
| cd00893 | 2716-3003  | PI4Kc_III |
| cd05167 | 2686-2954  | PI4Kc_III_alpha |
| cd05174 | 2686-2939  | PI3Kc_IA_delta |
| cd05173 | 2715-2953  | PI3Kc_IA_beta |
| pfam02260 | 3026-3056  | FATC |
| cl03505 | 3026-3056  | FATC superfamily |
| cd05166 | 2720-2976  | PI3Kc_II |
| cd05165 | 2852-2939  | PI3Kc_I |
| cd00891 | 2720-2948  | PI3Kc |
| cd00894 | 2852-2981  | PI3Kc_IB_gamma |
| cd05175 | 2852-2915  | PI3Kc_IA_alpha |
| cd05177 | 2704-2983  | PI3Kc_C2_gamma |
| pfam02259 | 2097-2489  | FAT |
| COG5032 | 2679-3055  | TEL1 |
Ontology Information
| HPRD ID | 5048 |    
|---|---|
| Molecular Class | Serine/threonine kinase |
| Molecular Function | Transaminase activity (GO:0008483) |
| Biological Process | Metabolism (GO:0008152); Energy pathways (GO:0006091)   |
Drug Information
| Uniprot ID | DrugBank ID | Name | Type |
|---|---|---|---|
| Q13315 | DB00201 | Caffeine | SmallMoleculeDrug |
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
