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Gene: TSC1 (TSC complex subunit 1) Homo sapiens
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Symbol: TSC1
Name: TSC complex subunit 1
Description: Exhibits several functions, including ATPase inhibitor activity; chaperone binding activity; and heat shock protein binding activity. Involved in several processes, including activation of GTPase activity; positive regulation of focal adhesion assembly; and regulation of cellular protein metabolic process. Localizes to several cellular components, including the TSC1-TSC2 complex; lamellipodium; and lipid droplet. Colocalizes with the actin filament. Implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Biomarker of breast cancer and pleomorphic xanthoastrocytoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: hamartin; KIAA0243; LAM; MGC86987; truncated hemartin; TSC; tuberous sclerosis 1; tuberous sclerosis 1 protein; tumor suppressor
Orthologs:
Mus musculus (house mouse) : Tsc1 (TSC complex subunit 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tsc1 (TSC complex subunit 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tsc1 (TSC complex subunit 1)
Pan paniscus (bonobo/pygmy chimpanzee) : TSC1 (TSC complex subunit 1)
Canis lupus familiaris (dog) : TSC1 (TSC complex subunit 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tsc1 (TSC complex subunit 1)
Sus scrofa (pig) : TSC1 (TSC complex subunit 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389132,891,349 - 132,945,269 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379135,766,735 - 135,820,094 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369134,756,557 - 134,809,841 (-)NCBINCBI36hg18NCBI36
Build 349132,815,940 - 132,849,574NCBI
Celera9106,308,473 - 106,361,761 (-)NCBI
Cytogenetic Map9q34.13NCBI
HuRef9105,260,658 - 105,313,711 (-)NCBIHuRef
CHM1_19135,917,213 - 135,970,447 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model