Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

7248

Name

TSC1

Synonymous

LAM|TSC;tuberous sclerosis 1;TSC1;tuberous sclerosis 1

Definition

hamartin|tuberous sclerosis 1 protein|tumor suppressor

Position

9q34

Gene Type

protein-coding

Gene Regulation:

Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

Transcription Factors

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Regulation From TransFac database

tuberin(r) + hamartin(h) <==> tuberin(r):hamartin(h) (binding)
14-3-3zeta(h):tuberin(h) + hamartin(h) <==> 14-3-3zeta(h):tuberin(h):hamartin(h) (binding)
14-3-3beta(h) + tuberin(r) + hamartin(h) <==> 14-3-3beta(h):tuberin(r):hamartin(h) (binding)
hamartin(h) + radixin(h) <==> hamartin(h):radixin(h) (binding)
hamartin(h) + NFL(h) <==> hamartin(h):NFL(h) (binding)
tuberin(r) + hamartin(h) + GSK3beta(x) <==> tuberin(r):hamartin(h):GSK3beta(x) (binding)
tuberin(r) + hamartin(h) + axin(x) + GSK3beta(x) <==> tuberin(r):hamartin(h):axin(x):GSK3beta(x) (binding)
hamartin(h) + ATP --Cdk1(h)--> hamartin(h){pT417}{pS584}{pT1047} + ADP (phosphorylation)
hamartin(h) + ATP --cyclinB(h):Cdk1(x)--> hamartin(h){pT417}{pS584}{pT1047} + ADP (phosphorylation)
IKK-beta(h) + hamartin(h) <==> IKK-beta(h):hamartin(h) (binding)
hamartin(h) + ubiquitin(h) --> hamartin(h){ub} (ubiquitination)
hamartin(h) + tuberin(h) <==> hamartin(h):tuberin(h) (binding)
TSC1(h) --> hamartin(h) (expression).
cyclinD1(m.s.) + hamartin(h) <==> cyclinD1(m.s.):hamartin(h) (binding)
tuberin(r) + hamartin(h) <==> tuberin(r):hamartin(h) (binding)
hamartin(h) + 2 ATP --> hamartin(h){pS487}{pS511} + 2 ADP (phosphorylation)
TSC1(h) --> hamartin(h) (expression).
cyclinD1(m.s.) --/ hamartin(h) (decrease of abundance)

Post Transcriptional Modification From dbPTM

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Location (AA)

PTM type

Literature

Database

505Phosphoserine.Swiss-Prot 53.0
417Phosphothreonine (CDK1)14551205Phospho.ELM 6.0
1047Phosphothreonine (CDK1)14551205Phospho.ELM 6.0
584Phosphoserine (CDK1)14551205Phospho.ELM 6.0
505Phosphoserine15963462Phospho.ELM 6.0

Methylation Profile From DiseaseMeth database

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Chromosome

Location

Source

chr9

Promoter: 134809341 - 134811341Agilent_014791

chr9

Promoter: 134809341 - 134811341GSE27584

chr9

Promoter: 134809341 - 134811341Agilent_014791_44K

chr9

Promoter: 134809341 - 134811341Agilent_014791

chr9

Promoter: 134809341 - 134811341PMID:15951164

chr9

Promoter: 134809341 - 134811341PMID:15951164


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