help  | about  | cite  | software

Gene : TSC1 Homo sapiens

Name  ? TSC complex subunit 1 Cytological Location  9q34.13
Brief Description  TSC complex subunit 1
description  This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]
  • synonyms:
  • uc004cca.3,
  • AF013168,
  • NM_000368,
  • OTTHUMG00000020844,
  • KIAA0243,
  • LAM,
  • tuberous sclerosis 1,
  • TSC1,
  • hamartin,
  • TSC,
  • LAM,
  • TSC,
  • HGNC:12362
  • identifiers:
  • 7248,
  • ENSG00000165699,
  • TSC1

Genome feature

Region: gene ? Length: 53922  
Location: 9:132891348-132945269 reverse strand Cyto location: 9q34.13


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

828 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results