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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
TSC1 7248 Tuberous sclerosis 1  9LAM; TSC 







  • 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   2010Cell 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



Chromosome: 9; NC_000009.11 (135766735..135820020, complement)

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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

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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

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Length 8473  



CDS Information


   
Locationjoin(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

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CCDS ID CCDS55350.1



Protein Information


      
Protein IDNP_000359.1
Protein NameTuberous sclerosis 1
Molecular Wt. (Da)129636
Protein Sequence

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Length 1164  
Uniprot IDP14416
Ensembl Protein ID ENSP00000278597  



Post-translational Modification Information (Source : HPRD)


Residue Type site
TPhosphorylation1047
TPhosphorylation417
SPhosphorylation584
SPhosphorylation505
SPhosphorylation505;-
SPhosphorylation1102;-
SPhosphorylation511
SPhosphorylation598

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
207AKT11261NP_005154.2in vivo12167664   
891CCNB1454NP_114172.1in vivo11444800   
4478MSN2399NP_002435.1in vivo;yeast 2-hybrid12226091   
4747NEFL1206NP_006149.2in vivo12226091   
7249TSC21850NP_000539.2in vitro;in vivo;yeast 2-hybrid10   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   
7430EZR475NP_003370.2in vitro;in vivo10806479   
7529YWHAB3184NP_003395.1in vitro12176984   
7531YWHAE5457NP_006752.1in vitro12176984   
7533YWHAH215NP_003396.1in vitro12176984   
7534YWHAZ3183NP_003397.1in vitro12176984   
10971YWHAQ886NP_006817.1in vitro12176984   


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
pfam12718758-918  Tropomyosin_1
cl22857758-918  Tropomyosin_1 superfamily
pfam03357779-881  Snf7
cl21588779-881  Snf7 superfamily
smart00935726-821  OmpH
cl21485726-821  OmpH superfamily
pfam10473836-953  CENP-F_leu_zip
cl22858836-953  CENP-F_leu_zip superfamily
cd07596754-916  BAR_SNX
cl12013754-916  BAR superfamily
pfam02388846-918  FemAB
cl17182846-918  NAT_SF superfamily
pfam043882-719  Hamartin
pfam14988766-932  DUF4515
COG1196751-971  Smc
COG1196705-971  Smc
COG0419705-971  SbcC
TIGR02168737-970  SMC_prok_B
COG1196705-971  Smc
TIGR04523715-953  Mplasa_alph_rch
COG0419705-963  SbcC
COG4942717-953  EnvC
TIGR02169705-971  SMC_prok_A
COG0419766-971  SbcC
COG1196687-912  Smc
COG3883752-953  CwlO1
TIGR02169705-967  SMC_prok_A
TIGR02168763-960  SMC_prok_B
TIGR02169725-961  SMC_prok_A
TIGR02169717-961  SMC_prok_A
TIGR02168685-961  SMC_prok_B
pfam05483710-969  SCP-1
PRK02224725-973  PRK02224
PRK02224725-970  PRK02224
TIGR00618708-962  sbcc
COG0419706-973  SbcC
TIGR02169710-971  SMC_prok_A
pfam12128705-950  DUF3584
COG1196705-912  Smc
TIGR02168685-890  SMC_prok_B
pfam13851710-815  GAS
PRK03918718-971  PRK03918
COG4372705-942  COG4372
pfam02463621-965  SMC_N
pfam13868718-953  Trichoplein
PRK11637734-953  PRK11637
TIGR03185705-937  DNA_S_dndD
pfam08317729-844  Spc7
pfam01576736-973  Myosin_tail_1
TIGR04523737-956  Mplasa_alph_rch
TIGR00618730-934  sbcc
TIGR00606706-965  rad50
TIGR02168705-867  SMC_prok_B
COG1196779-952  Smc
PRK04778721-971  PRK04778
pfam13868705-931  Trichoplein
pfam14643704-950  DUF4455
COG0419704-980  SbcC
pfam06160721-971  EzrA
pfam12795708-903  MscS_porin
pfam05557725-938  MAD
pfam00261779-965  Tropomyosin
pfam04012795-972  PspA_IM30
COG4372799-951  COG4372
TIGR04523716-936  Mplasa_alph_rch
pfam04111736-852  APG6
pfam05557687-938  MAD
pfam12128722-936  DUF3584
COG1579774-919  COG1579
pfam04156743-852  IncA
pfam05483707-972  SCP-1
pfam07926727-870  TPR_MLP1_2
pfam01576752-961  Myosin_tail_1
pfam05622729-945  HOOK
pfam05557720-971  MAD
PRK05563768-906  PRK05563
COG2268717-959  YqiK
pfam04111754-902  APG6
PRK04863759-958  mukB
pfam10174750-942  Cast
COG0497760-951  RecN
TIGR00606736-962  rad50
pfam10174705-928  Cast
COG4717713-961  YhaN
TIGR02168804-971  SMC_prok_B
pfam04912794-914  Dynamitin
pfam14915729-934  CCDC144C
pfam04156776-909  IncA
pfam00769705-916  ERM
PTZ00121757-961  PTZ00121
pfam04156762-869  IncA
pfam15558704-956  DUF4659
pfam06160731-912  EzrA
TIGR02169716-908  SMC_prok_A


Ontology Information


   
HPRD ID516
Molecular ClassCytoskeletal associated protein
Molecular FunctionCell adhesion molecule activity (GO:0005194)
Biological ProcessCell growth and/or maintenance (GO:0008151)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


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