• Gene id: 7248

Gene Summary

• Gene Symbol: TSC1   Gene   UCSC   Ensembl
• Aliases: LAM, TSC
• Gene name: TSC complex subunit 1
• Alternate names: hamartin, truncated hemartin, tuberous sclerosis 1 protein,
• Gene location: 9q34.13 (153990754: 153992154)     Exons: 4     NC_000001.11
• Gene summary(Entrez): 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 rapam
• OMIM: 605284

Protein Summary

• Protein general information: Q92574  
  • Name: Hamartin (Tuberous sclerosis 1 protein)
  • Length: 1164  
  • Mass: 129767
  • Tissue specificity: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
• Sequence:

  MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDR
  INEYVGKAATRLSILSLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQH
  LLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMME
  HVRIHPELVTGSKDHELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQISARFPHRSADVTTSPYADT
  QNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPSTRLITEPPQATLWSPSMVCGMTTPPTSPGNVPPDLSHPYSK
  VFGTTAGGKGTPLGTPATSPPPAPLCHSDDYVHISLPQATVTPPRKEERMDSARPCLHRQHHLLNDRGSEEPPGS
  KGSVTLSDLPGFLGDLASEEDSIEKDKEEAAISRELSEITTAEAEPVVPRGGFDSPFYRDSLPGSQRKTHSAASS
  SQGASVNPEPLHSSLDKLGPDTPKQAFTPIDLPCGSADESPAGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQ
  PPPYDHLFEVALPKTAHHFVIRKTEELLKKAKGNTEEDGVPSTSPMEVLDRLIQQGADAHSKELNKLPLPSKSVD
  WTHFGGSPPSDEIRTLRDQLLLLHNQLLYERFKRQQHALRNRRLLRKVIKAAALEEHNAAMKDQLKLQEKDIQMW
  KVSLQKEQARYNQLQEQRDTMVTKLHSQIRQLQHDREEFYNQSQELQTKLEDCRNMIAELRIELKKANNKVCHTE
  LLLSQVSQKLSNSESVQQQMEFLNRQLLVLGEVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQ
  RLDTSQKRILELESHLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFELEILDLYGRLEKDGLL
  KKLEEEKAEAAEAAEERLDCCNDGCSDSMVGHNEEASGHNGETKTPRPSSARGSSGSRGGGGSSSSSSELSTPEK
  PPHQRAGPFSSRWETTMGEASASIPTTVGSLPSSKSFLGMKARELFRNKSESQCDEDGMTSSLSESLKTELGKDL
  GVEAKIPLNLDGPHPSPPTPDSVGQLHIMDYNETHHEHS

• Structural information:
  • Interpro: IPR007483  
  • PDB: 4Z6Y 5EJC
  • PDBsum: 4Z6Y 5EJC
  • STRING: ENSP00000298552
• Other Databases: GeneCards:  TSC1  Malacards:  TSC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901214	regulation of neuron death	ISS	biological process
GO:0008344	adult locomotory behavior	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0090650	cellular response to oxygen-glucose deprivation	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0032007	negative regulation of TOR signaling	ISS	biological process
GO:0016242	negative regulation of macroautophagy	ISS	biological process
GO:0032007	negative regulation of TOR signaling	IBA	biological process
GO:0046627	negative regulation of insulin receptor signaling pathway	IBA	biological process
GO:0033596	TSC1-TSC2 complex	IBA	cellular component
GO:0051726	regulation of cell cycle	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032007	negative regulation of TOR signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903204	negative regulation of oxidative stress-induced neuron death	IEA	biological process
GO:0090650	cellular response to oxygen-glucose deprivation	IEA	biological process
GO:0051496	positive regulation of stress fiber assembly	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0034260	negative regulation of GTPase activity	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016239	positive regulation of macroautophagy	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0050821	protein stabilization	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0046323	glucose import	IEA	biological process
GO:0045792	negative regulation of cell size	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0032780	negative regulation of ATPase activity	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:1901214	regulation of neuron death	IEA	biological process
GO:0051893	regulation of focal adhesion assembly	IEA	biological process
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0032794	GTPase activating protein binding	IEA	molecular function
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0016242	negative regulation of macroautophagy	IEA	biological process
GO:0010977	negative regulation of neuron projection development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0045859	regulation of protein kinase activity	IEA	biological process
GO:0043379	memory T cell differentiation	IEA	biological process
GO:0042030	ATPase inhibitor activity	IEA	molecular function
GO:0021987	cerebral cortex development	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0101031	chaperone complex	IDA	cellular component
GO:0030544	Hsp70 protein binding	IDA	molecular function
GO:0051894	positive regulation of focal adhesion assembly	IDA	biological process
GO:0030027	lamellipodium	IDA	cellular component
GO:0005884	actin filament	IDA	colocalizes with
GO:0005737	cytoplasm	IDA	cellular component
GO:0042030	ATPase inhibitor activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0032780	negative regulation of ATPase activity	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0033596	TSC1-TSC2 complex	IDA	cellular component
GO:0051492	regulation of stress fiber assembly	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0032868	response to insulin	IDA	biological process
GO:0090630	activation of GTPase activity	IDA	biological process
GO:0006417	regulation of translation	IDA	biological process
GO:0005938	cell cortex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0051879	Hsp90 protein binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0032007	negative regulation of TOR signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0007160	cell-matrix adhesion	IMP	biological process
GO:0006407	rRNA export from nucleus	IMP	biological process
GO:0051879	Hsp90 protein binding	IPI	molecular function
GO:0043666	regulation of phosphoprotein phosphatase activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001952	regulation of cell-matrix adhesion	IMP	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0017148	negative regulation of translation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04714	Thermogenesis
hsa05163	Human cytomegalovirus infection
hsa04150	mTOR signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04140	Autophagy - animal
hsa04910	Insulin signaling pathway
hsa04218	Cellular senescence
hsa04152	AMPK signaling pathway
hsa05231	Choline metabolism in cancer
hsa04211	Longevity regulating pathway

Diseases

Associated diseases	References
Lymphangioleiomyomatosis	KEGG:H00896
Tuberous sclerosis complex	KEGG:H00915
Renal angiomyolipoma	KEGG:H01691
Subependymal giant cell astrocytoma	KEGG:H01692
Focal cortical dysplasia of Taylor	KEGG:H01251
Lymphangioleiomyomatosis	KEGG:H00896
Tuberous sclerosis complex	KEGG:H00915
Renal angiomyolipoma	KEGG:H01691
Subependymal giant cell astrocytoma	KEGG:H01692
Focal cortical dysplasia of Taylor	KEGG:H01251
Tuberous sclerosis 1	PMID:26019056
Intellectual disability	PMID:26408672
Tuberous sclerosis	PMID:16114042
Tuberous sclerosis	PMID:9242607
Tuberous sclerosis	PMID:25900779
Breast cancer	PMID:15951164
pleomorphic xanthoastrocytoma	PMID:16909113
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R