TSC1

TSC1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5EJC, 4Z6Y
Identifiers
Aliases	TSC1, LAM, TSC, tuberous sclerosis 1, TSC complex subunit 1
External IDs	OMIM: 605284; MGI: 1929183; HomoloGene: 314; GeneCards: TSC1; OMA:TSC1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	132,946,874 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	28,581,179 bp
RNA expression pattern
	Top expressed in
	pars compacta; ; glutes; ; external globus pallidus; ; Region I of hippocampus proper; ; pars reticulata; ; lateral nuclear group of thalamus; ; dorsal motor nucleus of vagus nerve; ; inferior olivary nucleus; ; superior vestibular nucleus; ; middle temporal gyrus;
	Top expressed in
	ventromedial nucleus; ; lateral hypothalamus; ; lateral septal nucleus; ; anterior amygdaloid area; ; supraoptic nucleus; ; Rostral migratory stream; ; paraventricular nucleus of hypothalamus; ; substantia nigra; ; mammillary body; ; arcuate nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	chaperone binding; protein binding; protein N-terminus binding; Hsp70 protein binding; ATPase inhibitor activity; Hsp90 protein binding; GTPase activating protein binding;
Cellular component	cytoplasm; cell cortex; growth cone; intracellular membrane-bounded organelle; lamellipodium; membrane; actin filament; TSC1-TSC2 complex; cytoskeleton; cytosol; nucleus; perinuclear region of cytoplasm; lipid droplet; plasma membrane; cell projection; protein-containing complex; chaperone complex; postsynaptic density;
Biological process	rRNA export from nucleus; regulation of cell cycle; neural tube closure; cerebral cortex development; memory T cell differentiation; regulation of protein kinase activity; positive regulation of focal adhesion assembly; myelination; negative regulation of insulin receptor signaling pathway; synapse organization; regulation of translation; hippocampus development; regulation of phosphoprotein phosphatase activity; cell-matrix adhesion; potassium ion transport; adaptive immune response; protein heterooligomerization; kidney development; nervous system development; cell projection organization; activation of GTPase activity; regulation of focal adhesion assembly; glucose import; regulation of cell-matrix adhesion; negative regulation of cell size; response to insulin; cardiac muscle cell differentiation; negative regulation of translation; negative regulation of cell population proliferation; cellular response to oxygen-glucose deprivation; adult locomotory behavior; negative regulation of TOR signaling; regulation of neuron death; negative regulation of macroautophagy; negative regulation of neuron projection development; positive regulation of macroautophagy; negative regulation of GTPase activity; regulation of stress fiber assembly; positive regulation of stress fiber assembly; negative regulation of oxidative stress-induced neuron death; negative regulation of ATP-dependent activity; protein stabilization;
	Sources:Amigo / QuickGO
Orthologs
	7248
	64930
	ENSG00000165699
	ENSMUSG00000026812
	Q92574
	Q9EP53
	NM_000368; NM_001008567; NM_001162426; NM_001162427; NM_001362177
	NM_022887; NM_001289575; NM_001289576
	NP_000359; NP_001155898; NP_001155899; NP_001349106
	NP_001276504; NP_001276505; NP_075025
	Wikidata
View/Edit Human	View/Edit Mouse

Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165699 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026812 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: TSC1 tuberous sclerosis 1".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165699 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026812 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: TSC1 tuberous sclerosis 1".

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