Hamartin

TSC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5EJC, 4Z6Y
Identifiers
Aliases	TSC1, LAM, TSC, tuberous sclerosis 1
External IDs	OMIM: 605284 MGI: 1929183 HomoloGene: 314 GeneCards: TSC1
Genetically Related Diseases
psoriasis
Gene ontology Molecular function • GTPase activating protein binding • chaperone binding • protein binding • protein N-terminus binding Cellular component • cytoplasm • cell cortex • growth cone • intracellular membrane-bounded organelle • lamellipodium • membrane • actin filament • TSC1-TSC2 complex • protein complex • cytoskeleton • cytosol • nucleus • perinuclear region of cytoplasm • lipid particle • plasma membrane • cell projection 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 • cell cycle arrest • 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 • protein stabilization • response to insulin • cardiac muscle cell differentiation • negative regulation of translation • negative regulation of cell 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 • membrane organization • negative regulation of oxidative stress-induced neuron death Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7248	64930
Ensembl	ENSG00000165699	ENSMUSG00000026812
UniProt	Q92574	Q9EP53
RefSeq (mRNA)	NM_000368 NM_001008567 NM_001162426 NM_001162427	NM_022887 NM_001289575 NM_001289576
RefSeq (protein)	NP_000359 NP_001155898 NP_001155899	NP_001276504.1 NP_001276505.1 NP_075025.2 NP_001276504 NP_001276505 NP_075025
Location (UCSC)	Chr 9: 132.89 – 132.94 Mb	Chr 2: 28.64 – 28.69 Mb
PubMed search

5EJC, 4Z6Y

7248

64930

ENSG00000165699

ENSMUSG00000026812

Q92574

Q9EP53

NM_000368
NM_001008567
NM_001162426
NM_001162427

NM_022887
NM_001289575
NM_001289576

NP_000359
NP_001155898
NP_001155899

NP_075025

Tuberous sclerosis 1 (TSC1), also known as Hamartin, is a protein that in humans is encoded by the TSC1 gene.

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Wikipedia