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General Information
- 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 |
|---|---|---|---|---|---|---|
| 20622004    | 2010 | Cell line : - Source : - Sample Type : Case control study No. of Sample : 871 male and 685 female colon cancer cases and 1047 male and 909 female controls, 451 male and 303 female rectal cancer cases and 541 and 418 corresponding controls Stage : - | - | Polymorhpism | - | PIK3CA, PRKAG2, PTEN, STK11 and TSC1 were significantly associated with rectal cancer overall. The rs13295634 tagSNP of TSC1 was associated with a significant 40% reduction in the odds of rectal cancer. |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]   | Chromosome | 9 |
| Location | 9q34 |
| Start | 132891348   |
| End | 132945370   |
| Strand | +   |
| Gene Sequence |    Download   Select all |
| Length | 54023   |
| OMIM ID | 605284    |
| HGNC ID | HGNC:12362    |
| Unigene ID | Hs.370854     |
| Ensembl ID | ENSG00000165699    |
| PharmGKB ID | -    |
mRNA Information
| mRNA ID | NM_001162427.1 |
|---|---|
| Exon | join(738..828,10276..10338,16419..16604,18067..18170, 21879..22023,23398..23552,23935..24008,32914..33089, 33803..33918,34258..34369,34679..34800,38001..38070, 38536..38640,39232..39790,40917..40960,41554..41720, 42584..42766,43672..43782,44534..44656,47761..47948, 48026..48187,48617..54023)   | mRNA Sequence |    Download   Select all |
| Length | 8473   |
CDS Information
| Location | join(16499..16604,18067..18170,21879..22023,23398..23552, 23935..24008,32914..33089,33803..33918,34258..34369, 34679..34800,38001..38070,38536..38640,39232..39790, 40917..40960,41554..41720,42584..42766,43672..43782, 44534..44656,47761..47948,48026..48187,48617..49136) |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS55350.1 |    
Protein Information
| Protein ID | NP_000359.1 |
|---|---|
| Protein Name | Tuberous sclerosis 1 |
| Molecular Wt. (Da) | 129636 |
| Protein Sequence |    Download   Select all |
| Length | 1164   |
| Uniprot ID | P14416 |    
| Ensembl Protein ID | ENSP00000278597   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| T | Phosphorylation | 1047 |
| T | Phosphorylation | 417 |
| S | Phosphorylation | 584 |
| S | Phosphorylation | 505 |
| S | Phosphorylation | 505;- |
| S | Phosphorylation | 1102;- |
| S | Phosphorylation | 511 |
| S | Phosphorylation | 598 |
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 |
|---|---|---|---|---|---|
| 207 |    AKT1 |    1261 |    NP_005154.2 |    in vivo |    12167664    |
| 891 |    CCNB1 |    454 |    NP_114172.1 |    in vivo |    11444800    |
| 4478 |    MSN |    2399 |    NP_002435.1 |    in vivo;yeast 2-hybrid |    12226091    |
| 4747 |    NEFL |    1206 |    NP_006149.2 |    in vivo |    12226091    |
| 7249 |    TSC2 |    1850 |    NP_000539.2 |    in vitro;in vivo;yeast 2-hybrid |    10   915   759   164   243   800   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000    |
| 7430 |    EZR |    475 |    NP_003370.2 |    in vitro;in vivo |    10806479    |
| 7529 |    YWHAB |    3184 |    NP_003395.1 |    in vitro |    12176984    |
| 7531 |    YWHAE |    5457 |    NP_006752.1 |    in vitro |    12176984    |
| 7533 |    YWHAH |    215 |    NP_003396.1 |    in vitro |    12176984    |
| 7534 |    YWHAZ |    3183 |    NP_003397.1 |    in vitro |    12176984    |
| 10971 |    YWHAQ |    886 |    NP_006817.1 |    in vitro |    12176984    |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| AMPK signaling pathway |    hsa04152 |    
| Choline metabolism in cancer |    hsa05231 |    
| Insulin signaling pathway |    hsa04910 |    
| Longevity regulating pathway - mammal |    hsa04211 |    
| mTOR signaling pathway |    hsa04150 |    
| Phospholipase D signaling pathway |    hsa04072 |    
| PI3K-Akt signaling pathway |    hsa04151 |    
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam12718 | 758-918  | Tropomyosin_1 |
| cl22857 | 758-918  | Tropomyosin_1 superfamily |
| pfam03357 | 779-881  | Snf7 |
| cl21588 | 779-881  | Snf7 superfamily |
| smart00935 | 726-821  | OmpH |
| cl21485 | 726-821  | OmpH superfamily |
| pfam10473 | 836-953  | CENP-F_leu_zip |
| cl22858 | 836-953  | CENP-F_leu_zip superfamily |
| cd07596 | 754-916  | BAR_SNX |
| cl12013 | 754-916  | BAR superfamily |
| pfam02388 | 846-918  | FemAB |
| cl17182 | 846-918  | NAT_SF superfamily |
| pfam04388 | 2-719  | Hamartin |
| pfam14988 | 766-932  | DUF4515 |
| COG1196 | 751-971  | Smc |
| COG1196 | 705-971  | Smc |
| COG0419 | 705-971  | SbcC |
| TIGR02168 | 737-970  | SMC_prok_B |
| COG1196 | 705-971  | Smc |
| TIGR04523 | 715-953  | Mplasa_alph_rch |
| COG0419 | 705-963  | SbcC |
| COG4942 | 717-953  | EnvC |
| TIGR02169 | 705-971  | SMC_prok_A |
| COG0419 | 766-971  | SbcC |
| COG1196 | 687-912  | Smc |
| COG3883 | 752-953  | CwlO1 |
| TIGR02169 | 705-967  | SMC_prok_A |
| TIGR02168 | 763-960  | SMC_prok_B |
| TIGR02169 | 725-961  | SMC_prok_A |
| TIGR02169 | 717-961  | SMC_prok_A |
| TIGR02168 | 685-961  | SMC_prok_B |
| pfam05483 | 710-969  | SCP-1 |
| PRK02224 | 725-973  | PRK02224 |
| PRK02224 | 725-970  | PRK02224 |
| TIGR00618 | 708-962  | sbcc |
| COG0419 | 706-973  | SbcC |
| TIGR02169 | 710-971  | SMC_prok_A |
| pfam12128 | 705-950  | DUF3584 |
| COG1196 | 705-912  | Smc |
| TIGR02168 | 685-890  | SMC_prok_B |
| pfam13851 | 710-815  | GAS |
| PRK03918 | 718-971  | PRK03918 |
| COG4372 | 705-942  | COG4372 |
| pfam02463 | 621-965  | SMC_N |
| pfam13868 | 718-953  | Trichoplein |
| PRK11637 | 734-953  | PRK11637 |
| TIGR03185 | 705-937  | DNA_S_dndD |
| pfam08317 | 729-844  | Spc7 |
| pfam01576 | 736-973  | Myosin_tail_1 |
| TIGR04523 | 737-956  | Mplasa_alph_rch |
| TIGR00618 | 730-934  | sbcc |
| TIGR00606 | 706-965  | rad50 |
| TIGR02168 | 705-867  | SMC_prok_B |
| COG1196 | 779-952  | Smc |
| PRK04778 | 721-971  | PRK04778 |
| pfam13868 | 705-931  | Trichoplein |
| pfam14643 | 704-950  | DUF4455 |
| COG0419 | 704-980  | SbcC |
| pfam06160 | 721-971  | EzrA |
| pfam12795 | 708-903  | MscS_porin |
| pfam05557 | 725-938  | MAD |
| pfam00261 | 779-965  | Tropomyosin |
| pfam04012 | 795-972  | PspA_IM30 |
| COG4372 | 799-951  | COG4372 |
| TIGR04523 | 716-936  | Mplasa_alph_rch |
| pfam04111 | 736-852  | APG6 |
| pfam05557 | 687-938  | MAD |
| pfam12128 | 722-936  | DUF3584 |
| COG1579 | 774-919  | COG1579 |
| pfam04156 | 743-852  | IncA |
| pfam05483 | 707-972  | SCP-1 |
| pfam07926 | 727-870  | TPR_MLP1_2 |
| pfam01576 | 752-961  | Myosin_tail_1 |
| pfam05622 | 729-945  | HOOK |
| pfam05557 | 720-971  | MAD |
| PRK05563 | 768-906  | PRK05563 |
| COG2268 | 717-959  | YqiK |
| pfam04111 | 754-902  | APG6 |
| PRK04863 | 759-958  | mukB |
| pfam10174 | 750-942  | Cast |
| COG0497 | 760-951  | RecN |
| TIGR00606 | 736-962  | rad50 |
| pfam10174 | 705-928  | Cast |
| COG4717 | 713-961  | YhaN |
| TIGR02168 | 804-971  | SMC_prok_B |
| pfam04912 | 794-914  | Dynamitin |
| pfam14915 | 729-934  | CCDC144C |
| pfam04156 | 776-909  | IncA |
| pfam00769 | 705-916  | ERM |
| PTZ00121 | 757-961  | PTZ00121 |
| pfam04156 | 762-869  | IncA |
| pfam15558 | 704-956  | DUF4659 |
| pfam06160 | 731-912  | EzrA |
| TIGR02169 | 716-908  | SMC_prok_A |
Ontology Information
| HPRD ID | 516 |    
|---|---|
| Molecular Class | Cytoskeletal associated protein |
| Molecular Function | Cell adhesion molecule activity (GO:0005194) |
| Biological Process | Cell growth and/or maintenance (GO:0008151)   |
Drug Information
No matching records could be found.
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 |    
