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TSC1 (NM_000368) - TSC complex subunit 1

Hamartin Isoform 1

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of TSC1 protein. View all 3 isoforms
TSC1: hamartin isoform 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].

Strand
-
Chromosome
9
Protein
1164 residues
All mutations
917
PTM sites
49
CDS
135,771,621 - 135,804,259
Transcription
135,766,734 - 135,820,020
52.84% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 7248
UniProt
Ensembl