TSC complex subunit 1

Summary
Gene Symbol
  • Tsc1
Organism
Mus musculus (house mouse)
NCBI Gene
64930
PubChem
64930
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Chaperone
  • Coiled coil
  • Cytoplasm
  • Isopeptide bond
  • Lysosome
  • Membrane
  • Phosphoprotein
  • Reference proteome
  • Tumor suppressor
  • Ubl conjugation
Proteins
Displaying 1 entry
UniProt Protein Name
Q9EP53
  • Tuberous sclerosis 1 protein homolog
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
hamartin
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying 1 entry
InterPro
Hamartin
Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:0060041 autism spectrum disorder
DOID:0060564 spinal disease
DOID:0060648 anterior segment dysgenesis
DOID:0110861 autosomal recessive polycystic kidney disease
DOID:13515 tuberous sclerosis

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025