Tsc1 - TSC complex subunit 1 Gene

Mus musculus

Gene ID: 64930 | Gene type: protein coding

About Tsc1

Summary

Enables ATPase inhibitor activity and protein N-terminus binding activity. Involved in associative learning; negative regulation of ATPase activity; and protein stabilization. Acts upstream of or within several processes, including animal organ development; negative regulation of cell size; and nervous system development. Located in cytoplasm. Is active in postsynaptic density. Is expressed in several structures, including central nervous system; genitourinary system; hepatic primordium; liver; and retina. Used to study anterior segment dysgenesis; autism spectrum disorder; autosomal recessive polycystic kidney disease; and tuberous sclerosis. Human ortholog(s) of this gene implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Orthologous to human TSC1 (TSC complex subunit 1). [provided by Alliance of Genome Resources, Apr 2022]

Tsc1 Products(3)

mRNA	Protein	Name
NM_001289575.2	NP_001276504.1	hamartin isoform 1
NM_001289576.2	NP_001276505.1	hamartin isoform 3
NM_022887.5	NP_075025.2	hamartin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase inhibitor activity	IMP IMP: Inferred from mutant phenotype	29127155	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	10806479	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within D-glucose import	IMP IMP: Inferred from mutant phenotype	18511518	MGI
acts upstream of or within adaptive immune response	IMP IMP: Inferred from mutant phenotype	25271321	MGI
involved in associative learning	IMP IMP: Inferred from mutant phenotype	26158416	MGI
acts upstream of or within cardiac muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	11438694	MGI
acts upstream of cell population proliferation	IMP IMP: Inferred from mutant phenotype	11438694	MGI
acts upstream of or within cell projection organization	IMP IMP: Inferred from mutant phenotype	16286931	MGI
acts upstream of or within cerebral cortex development	IMP IMP: Inferred from mutant phenotype	17522300	MGI
acts upstream of or within embryo development	IMP IMP: Inferred from mutant phenotype	15888477	MGI
acts upstream of or within hippocampus development	IMP IMP: Inferred from mutant phenotype	17522300	MGI
acts upstream of or within kidney development	IMP IMP: Inferred from mutant phenotype	15888477	MGI
acts upstream of or within memory T cell differentiation	IMP IMP: Inferred from mutant phenotype	25271321	MGI
acts upstream of or within myelination	IMP IMP: Inferred from mutant phenotype	17522300	MGI
involved in negative regulation of ATP-dependent activity	IMP IMP: Inferred from mutant phenotype	29127155	MGI
acts upstream of or within negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	11438694	MGI
acts upstream of or within negative regulation of cell size	IGI IGI: Inferred from genetic interaction	15185396	MGI
acts upstream of or within negative regulation of cell size	IMP IMP: Inferred from mutant phenotype	15664737	MGI
acts upstream of or within nervous system development	IMP IMP: Inferred from mutant phenotype	17522300	MGI
acts upstream of or within neural tube closure	IMP IMP: Inferred from mutant phenotype	11438694	MGI
acts upstream of or within potassium ion transport	IGI IGI: Inferred from genetic interaction	16393152	MGI
acts upstream of or within potassium ion transport	IMP IMP: Inferred from mutant phenotype	16393152	MGI
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	29127155	MGI
acts upstream of or within regulation of protein kinase activity	IGI IGI: Inferred from genetic interaction	15185396	MGI
acts upstream of or within synapse organization	IMP IMP: Inferred from mutant phenotype	16286931	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11741832	MGI
is active in postsynaptic density	EXP EXP: Inferred from Experiment	25211037	MGI
is active in postsynaptic density	IDA IDA: Inferred from direct assay	25211037	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

hamartin

tuberous sclerosis 1 protein homolog

Tsc1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Tsc1	Q9EP53	Tsc2	Mus musculus	Q61037	Anti Bait CoIP	28671696
Intra	Tsc1	Q9EP53	Tsc2	Mus musculus	Q61037	Anti Bait CoIP	20412061

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-134904	RMC-6272	Inhibitor	95.54%	Unkown
HY-131976	BVDV-IN-1	Inhibitor	98.51%	Unkown
HY-134922	NS1-IN-1	Inhibitor	/	Unkown
HY-RS15131	TSC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS17222	Tsc1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS23675	Tsc1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Tsc1	NCBI	NCBI:7248

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