TSC1 - TSC complex subunit 1 Gene

Also Known as LAM; TSC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7248

About TSC1

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:132,891,349-132,945,378 (from NCBI)

This gene has 47 transcripts (splice variants), 283 orthologues and is associated with 132 phenotypes. Ubiquitous expression in testis (RPKM 9.2), brain (RPKM 8.5) and 25 other tissues.

Summary

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 rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for HSP90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

TSC1 Products (86)

mRNA	Protein	Name
NM_000368.5	NP_000359.1	hamartin isoform 1
NM_001162426.2	NP_001155898.1	hamartin isoform 3
NM_001162427.2	NP_001155899.1	hamartin isoform 4
NM_001362177.2	NP_001349106.1	hamartin isoform 5
NM_001406592.1	NP_001393521.1	hamartin isoform 1
NM_001406593.1	NP_001393522.1	hamartin isoform 1
NM_001406594.1	NP_001393523.1	hamartin isoform 1
NM_001406595.1	NP_001393524.1	hamartin isoform 1
NM_001406596.1	NP_001393525.1	hamartin isoform 1
NM_001406597.1	NP_001393526.1	hamartin isoform 3
NM_001406598.1	NP_001393527.1	hamartin isoform 3
NM_001406599.1	NP_001393528.1	hamartin isoform 3
NM_001406600.1	NP_001393529.1	hamartin isoform 3
NM_001406601.1	NP_001393530.1	hamartin isoform 5
NM_001406602.1	NP_001393531.1	hamartin isoform 5
NM_001406603.1	NP_001393532.1	hamartin isoform 6
NM_001406604.1	NP_001393533.1	hamartin isoform 6
NM_001406605.1	NP_001393534.1	hamartin isoform 7
NM_001406606.1	NP_001393535.1	hamartin isoform 7
NM_001406607.1	NP_001393536.1	hamartin isoform 7
NM_001406608.1	NP_001393537.1	hamartin isoform 8
NM_001406609.1	NP_001393538.1	hamartin isoform 8
NM_001406610.1	NP_001393539.1	hamartin isoform 4
NM_001406611.1	NP_001393540.1	hamartin isoform 9
NM_001406612.1	NP_001393541.1	hamartin isoform 9
NM_001406613.1	NP_001393542.1	hamartin isoform 10
NM_001406614.1	NP_001393543.1	hamartin isoform 5
NM_001406615.1	NP_001393544.1	hamartin isoform 5
NM_001406616.1	NP_001393545.1	hamartin isoform 5
NM_001406617.1	NP_001393546.1	hamartin isoform 5
NM_001406618.1	NP_001393547.1	hamartin isoform 5
NM_001406619.1	NP_001393548.1	hamartin isoform 5
NM_001406620.1	NP_001393549.1	hamartin isoform 11
NM_001406621.1	NP_001393550.1	hamartin isoform 11
NM_001406622.1	NP_001393551.1	hamartin isoform 11
NM_001406623.1	NP_001393552.1	hamartin isoform 11
NM_001406624.1	NP_001393553.1	hamartin isoform 12
NM_001406625.1	NP_001393554.1	hamartin isoform 13
NM_001406626.1	NP_001393555.1	hamartin isoform 14
NM_001406627.1	NP_001393556.1	hamartin isoform 15
NM_001406628.1	NP_001393557.1	hamartin isoform 15
NM_001406629.1	NP_001393558.1	hamartin isoform 16
NM_001406630.1	NP_001393559.1	hamartin isoform 16
NM_000368.5	NP_000359.1	hamartin isoform 1
NM_001162426.2	NP_001155898.1	hamartin isoform 3
NM_001162427.2	NP_001155899.1	hamartin isoform 4
NM_001362177.2	NP_001349106.1	hamartin isoform 5
NM_001406592.1	NP_001393521.1	hamartin isoform 1
NM_001406593.1	NP_001393522.1	hamartin isoform 1
NM_001406594.1	NP_001393523.1	hamartin isoform 1
NM_001406595.1	NP_001393524.1	hamartin isoform 1
NM_001406596.1	NP_001393525.1	hamartin isoform 1
NM_001406597.1	NP_001393526.1	hamartin isoform 3
NM_001406598.1	NP_001393527.1	hamartin isoform 3
NM_001406599.1	NP_001393528.1	hamartin isoform 3
NM_001406600.1	NP_001393529.1	hamartin isoform 3
NM_001406601.1	NP_001393530.1	hamartin isoform 5
NM_001406602.1	NP_001393531.1	hamartin isoform 5
NM_001406603.1	NP_001393532.1	hamartin isoform 6
NM_001406604.1	NP_001393533.1	hamartin isoform 6
NM_001406605.1	NP_001393534.1	hamartin isoform 7
NM_001406606.1	NP_001393535.1	hamartin isoform 7
NM_001406607.1	NP_001393536.1	hamartin isoform 7
NM_001406608.1	NP_001393537.1	hamartin isoform 8
NM_001406609.1	NP_001393538.1	hamartin isoform 8
NM_001406610.1	NP_001393539.1	hamartin isoform 4
NM_001406611.1	NP_001393540.1	hamartin isoform 9
NM_001406612.1	NP_001393541.1	hamartin isoform 9
NM_001406613.1	NP_001393542.1	hamartin isoform 10
NM_001406614.1	NP_001393543.1	hamartin isoform 5
NM_001406615.1	NP_001393544.1	hamartin isoform 5
NM_001406616.1	NP_001393545.1	hamartin isoform 5
NM_001406617.1	NP_001393546.1	hamartin isoform 5
NM_001406618.1	NP_001393547.1	hamartin isoform 5
NM_001406619.1	NP_001393548.1	hamartin isoform 5
NM_001406620.1	NP_001393549.1	hamartin isoform 11
NM_001406621.1	NP_001393550.1	hamartin isoform 11
NM_001406622.1	NP_001393551.1	hamartin isoform 11
NM_001406623.1	NP_001393552.1	hamartin isoform 11
NM_001406624.1	NP_001393553.1	hamartin isoform 12
NM_001406625.1	NP_001393554.1	hamartin isoform 13
NM_001406626.1	NP_001393555.1	hamartin isoform 14
NM_001406627.1	NP_001393556.1	hamartin isoform 15
NM_001406628.1	NP_001393557.1	hamartin isoform 15
NM_001406629.1	NP_001393558.1	hamartin isoform 16
NM_001406630.1	NP_001393559.1	hamartin isoform 16

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables ATPase inhibitor activity	IDA IDA: Inferred from direct assay	29127155	GOA
enables Hsp70 protein binding	IDA IDA: Inferred from direct assay	29127155	GOA
enables Hsp90 protein binding	IPI IPI: Inferred from physical interaction	29127155	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9580671	GOA
enables protein folding chaperone	IDA IDA: Inferred from direct assay	10585443	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	10585443	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in activation of GTPase activity	IDA IDA: Inferred from direct assay	10806479	GOA
involved in cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	10806479	GOA
involved in cellular response to starvation	IDA IDA: Inferred from direct assay	24529379	GOA
involved in negative regulation of ATP-dependent activity	IDA IDA: Inferred from direct assay	29127155	GOA
involved in negative regulation of TOR signaling	IDA IDA: Inferred from direct assay	22795129	GOA
involved in negative regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	17308101	GOA
involved in negative regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	12172553	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	10915759	GOA
involved in negative regulation of translation	IMP IMP: Inferred from mutant phenotype	17308101	GOA
involved in positive regulation of focal adhesion assembly	IDA IDA: Inferred from direct assay	10806479	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	11175345	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	29127155	GOA
involved in regulation of cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	10806479	GOA
involved in regulation of stress fiber assembly	IDA IDA: Inferred from direct assay	10806479	GOA
involved in regulation of translation	IDA IDA: Inferred from direct assay	17308101	GOA
involved in response to insulin	IDA IDA: Inferred from direct assay	16996505	GOA
involved in ribosomal subunit export from nucleus	IMP IMP: Inferred from mutant phenotype	17308101	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of TSC1-TSC2 complex	EXP EXP: Inferred from Experiment	26893383	GOA
part of TSC1-TSC2 complex	IDA IDA: Inferred from direct assay	9580671	GOA
part of TSC1-TSC2 complex	IPI IPI: Inferred from physical interaction	22795129	GOA
colocalizes with actin filament	IDA IDA: Inferred from direct assay	10806479	GOA
located in cell cortex	IDA IDA: Inferred from direct assay	10806479	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9580671	GOA
located in cytosol	IDA IDA: Inferred from direct assay	10585443	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	10806479	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	24529379	GOA
located in membrane	IDA IDA: Inferred from direct assay	16636147	GOA
part of protein folding chaperone complex	IDA IDA: Inferred from direct assay	29127155	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	10585443	GOA

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

TSC1 Protein Structure

Hamartin

0
200
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600
800
1000
1164 a.a.

Protein Preferred Names	Protein Names
hamartin	tuberous sclerosis 1 protein

TSC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	TSC1	Q92574	TSC2	Homo sapiens	P49815	Anti Bait CoIP	9809973
Intra	TSC1	Q92574	TSC2	Homo sapiens	P49815	Anti Bait CoIP	9580671
Intra	TSC1	Q92574	TSC2	Homo sapiens	P49815	Anti Tag CoIP	33436626
Intra	TSC1	Q92574	TSC2	Homo sapiens	P49815	Y2H	9580671
Intra	TSC1	Q92574	TSC2	Homo sapiens	P49815	Confocal	9580671
Intra	TSC1	Q92574	TSC2	Homo sapiens	P49815	Anti Bait CoIP	21134130
Intra	TSC1	Q92574	FTH1	Homo sapiens	P02794	Y2H	17355907
Intra	TSC1	Q92574	MAPK14	Homo sapiens	Q16539	Pull Down	20368287
Intra	TSC1	Q92574	MAPK14	Homo sapiens	Q16539	Y2H Pooling	20368287
Intra	TSC1	Q92574	BEX3	Homo sapiens	Q00994	Pull Down	17355907
Intra	TSC1	Q92574	IKBKB	Homo sapiens	O14920	Protein Kinase Assay	17693255
Intra	TSC1	Q92574	IKBKB	Homo sapiens	O14920	Anti Bait CoIP	17693255

Cross: Cross-species interaction Intra: Intraspecies interaction

TSC1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P80498	Hamartin Antibody (YA743)	WB, ICC/IF, IHC-P, FC	Human, Mouse

Related Diseases

Diseases	Alias
Tuberous Sclerosis 1	Tuberous Sclerosis Complex Tuberous Sclerosis Bourneville Syndrome TSC1 Tuberose Sclerosis Ts Tuberous Sclerosis-1 Bourneville Disease Tsc Bourneville Phakomatosis Cerebral Sclerosis Sclerosis Tuberosa Tuberous Sclerosis, Type 1
Lymphangioleiomyomatosis	Lymphangiomyomatosis LAM Lung Lymphangioleiomyomatosis Pulmonary Lymphangioleiomyomatosis Lymphangioleiomyomatosis, Somatic Lymphangio-Myomatosis
Focal Cortical Dysplasia, Type Ii	Focal Cortical Dysplasia Of Taylor Cortical Dysplasia Of Taylor Cdt Fcdt Isolated Focal Cortical Dysplasia Type Ii FCORD2 Fcd2 Focal Cortical Dysplasia Type 2 Cortical Dysplasia Of Taylor, Dysplasia Only Focal Cortical Dysplasia, Type Ii, Somatic Focal Cortical Dysplasia Type Ii Isolated Focal Cortical Dysplasia Type Iib Fcd Type Iib Cortical Dysplasia, Taylor Type Fcd Type Ii Isolated Focal Cortical Dysplasia Type 2 Isolated Focal Cortical Dysplasia Type Iia Fcd Type Iia Isolated Focal Cortical Dysplasia Epilepsy Due To Fcd Focal Cortical Dysplasia 2 Cdtbc Cdtd Cortical Dysplasia Of Taylor With Balloon Cells Cortical Dysplasia Of Taylor Without Balloon Cells Fcd Iia Fcd Iib Fcord2a Fcord2b Focal Cortical Dysplasia, Type Iia Focal Cortical Dysplasia, Type Iib Focal Cortical Dysplasia Of Taylor Balloon Cell Type FCDBC Focal Cortical Dysplasia, Taylor Balloon Cell Type Dysplasia, Cortical, Focal Type Ii Focal Cortical Dysplasia Of Taylor, Type Iib
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Tuberous Sclerosis	Tuberous Sclerosis Syndrome Bourneville'S Disease Epiloia Cerebral Sclerosis Tuberose Sclerosis Tuberous Sclerosis 1 Bourneville Disease Bourneville Phakomatosis Pringle'S Disease
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Angiomyolipoma	Angiomyolipoma Of Kidney
Kidney Angiomyolipoma	Angiomyolipoma Of Kidney Renal Angiomyolipoma
Subependymal Giant Cell Astrocytoma	Sega Astrocytoma Subependymal Giant Cell Subependymal Giant-Cell Astrocytoma
Adult Hepatocellular Carcinoma	Adult Primary Hepatocellular Carcinoma Adult Hepatoma Adult Hcc
Peutz-Jeghers Syndrome	PJS Polyposis, Hamartomatous Intestinal Polyps-And-Spots Syndrome Lentiginosis, Perioral Periorificial Lentiginosis Syndrome Hamartomatous Intestinal Polyposis Hamartomatous Polyp Colonic Hamartomatous Polyp Gastric Peutz-Jeghers Polyp Peutz Jeghers Colon Polyp Peutz Jeghers Polyp Peutz-Jeghers Polyp Of Small Intestine Peutz-Jeghers Small Bowel Hamartoma Peutz Jeghers Polyposis Intestinal Polyposis-Cutaneous Pigmentation Syndrome Peutz-Jeghers Polyposis Polyposis, Intestinal, Ii Intestinal Hamartomatous Polyposis Peutz-Jeghers Polyp Peutz-Jeghers Polyp Of The Stomach Peutz Jehgers Polyp Peutz-Jeghers Polyps Of Small Bowel
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Ostravik-Lindemann-Solberg Syndrome CHDTHP Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome Orstavik Lindemann Solberg Syndrome Heart Defect - Tongue Hamartoma - Polysyndactyly Syndrome Heart Defect, Tongue Hamartoma And Polysyndactyly Hamartoma
Obstructive Hydrocephalus
Subependymal Glioma	Mixed Subependymoma-Ependymoma Subependymal Astrocytoma Who Grade I Ependymal Tumor Glioma, Subependymal
Benign Ependymoma	Ependymoma Epithelial Ependymoma Who Grade Ii Ependymal Tumor Myxopapillary Ependymoma
Kidney Benign Neoplasm	Renal And Ureteral Tumor Benign Kidney Neoplasm
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
D-2-Hydroxyglutaric Aciduria 1	D-2-Hydroxyglutaric Aciduria D2HGA1 D-2-Hga D-2-Hydroxyglutaric Acidemia D2ha D2hga Aciduria, D-2-Hydroxyglutaric, Type 1 Combined D-2- And L-2-Hydroxyglutaric Aciduria
Fibroma
Lung Disease	Lung Diseases Disorder Of Lung Abnormality Of The Lung
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Diffuse Lipomatosis
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Ganglioglioma	Childhood Ganglioglioma Adult Ganglioglioma Cns Ganglioglioma Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components
Pneumothorax	Pneumothorax Nos Air Leak Nos Pleural Air Leak Nos
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Hepatic Angiomyolipoma
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Perivascular Epithelioid Cell Tumor	Pecoma Perivascular Epithelioid Cell Neoplasms Neoplasm With Perivascular Epithelioid Cell Differentiation
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic Kidney Disease 1 PKD1 Adpkd Polycystic Kidney Disease, Adult, Type I Apkd1 Potter Type Iii Polycystic Kidney Disease Polycystic Kidney Disease, Adult Potter Type Iii Polycystic Kidney Disease, Formerly Polycystic Kidney Disease, Type 1 Adpkd1 Adult Polycystic Kidney Disease Type 1 Autosomal Dominant Polycystic Kidney Disease 1 Pkd-1 Polycystic Kidney Disease Adult Polycystic Kidney Disease Type I Polycystic Kidneys Polycystic Kidney Disease, Adult Type I Polycystic Kidney Type 1 Autosomal Dominant Disease Kidney Disease, Polycystic, Type 1 Polycystic Kidney, Autosomal Dominant Polycystic Kidney, Type 1 Autosomal Dominant Disease Polycystic Kidney Diseases
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Ganglioneuroma
Neurofibromatosis, Type I	Von Recklinghausen Disease Neurofibromatosis 1 Neurofibromatosis, Type 1 NF1 Neurofibromatosis, Peripheral Type Neurofibromatosis Type I Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion Familial Spinal Neurofibromatosis Fsnf Peripheral Neurofibromatosis Von Recklinghausen'S Neurofibromatosis Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion Neurofibromatosis Peripheral Type Von Recklinghausen Syndrome Neurofibromatosis Type 1 Von Recklinghausen Neuropathy Nf1 - [Neurofibromatosis Type 1] Recklinghausen Disease
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Epithelioid Type Angiomyolipoma	Epithelioid Angiomyolipoma
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Heart Cancer	Malignant Neoplasm Of Heart Heart Neoplasm Cardiac Tumor Malignant Cardiac Tumor Tumour Of Heart Heart Neoplasms Cardiac Carcinoma
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Birt-Hogg-Dube Syndrome	Hornstein-Knickenberg Syndrome Fibrofolliculomas With Trichodiscomas And Acrochordons BHD Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculoma Familial Bhd Syndrome Birt Hogg Dube Syndrome Hornstein-Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculomas
Liver Lipoma	Hepatic Lipoma Lipoma Of The Liver
Hemangioma	Hemangiomas
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic Liver Disease 1 PCLD1 Cyst Liver Disease, Polycystic, Type 1 Polycystic Liver Disease
Uterus Perivascular Epithelioid Cell Tumor	Uterine Corpus Pecoma
Corneal Dystrophy, Fleck	Fleck Corneal Dystrophy Fcd CFD Corneal Fleck Dystrophy Francois-Neetens Speckled Corneal Dystrophy Corneal Dystrophy, Francois-Neetens Speckled Or Flecked Corneal Dystrophy Francois-Neetens Speckled Or Flecked Dystrophy, Corneal, Fleck
Kidney Cancer	Renal Cancer Renal Carcinoma Kidney Neoplasm Malignant Neoplasm Of Kidney Except Pelvis Malignant Tumour Of Kidney Kidney Neoplasms Cancer, Kidney Cancer, Renal Malignant Neoplasm Of Kidney Renal Cell Carcinoma
Low Grade Glioma	Benign Glioma
Multilocular Clear Cell Renal Cell Carcinoma	Cystadenocarcinoma Of Kidney Renal Cystadenocarcinoma
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Pilocytic Astrocytoma	Juvenile Pilocytic Astrocytoma Grade I Astrocytic Tumor Piloid Astrocytoma
Perivascular Tumor	Malignant Perivascular Cancer
Central Nervous System Benign Neoplasm	Benign Neoplasm Of The Central Nervous System
Angiolipoma
Lymphoid Interstitial Pneumonia	Lymphocytic Interstitial Pneumonia Lip Disease Lip Diseases LIP Disease Of Lips
Proteus Syndrome	Proteus Syndrome, Somatic Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly Wiedemann'S Syndrome Hemihypertrophy And Macrocephaly Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly Ps PROTEUSS Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly
Spinal Cord Disease	Spinal Cord Diseases Myelopathy Bone Marrow Diseases
Connective Tissue Benign Neoplasm	Soft Tissue Neoplasms Mesenchymal Tissue Neoplasm Neoplasm Of Soft Tissue Neoplasm Of Soft Tissues Soft Tissue Benign Neoplasm Tumor Of The Soft Tissue Soft Tissue Neoplasm
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Brain Cancer	Adult Brain Tumor Malignant Neoplasm Of Brain Brain Neoplasms Brain Neoplasm Neoplasm Of Brain Primary Malignant Neoplasm Of Brain Brain Tumors Adult Malignant Brain Neoplasm Brain Neoplasm, Adult Bt - Brain Tumour Malignant Brain Tumour Malignant Primary Brain Neoplasm Malignant Primary Brain Tumor Malignant Tumor Of Adult Brain Malignant Tumor Of Brain Primary Brain Neoplasm Primary Brain Tumor Tumor Of The Brain Brain Tumor, Adult Brain Tumor Primary Malignant Primary Brain Tumors Primary Brain Tumors Cancer, Brain Brain Tumor, Primary
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Gallbladder Disease	Gallbladder Diseases Gall Bladder Gall Bladder Diseases Abnormal Gallbladder Function
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-134904	RMC-6272	Inhibitor	97.42%	Unkown
HY-131976	BVDV-IN-1	Inhibitor	98.51%	Unkown
HY-RS15131	TSC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17222	Tsc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02096	CCL26 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-134922	NS1-IN-1	Inhibitor	/	Unkown
HY-RS23675	Tsc1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TSC1	VGNC	VGNC:36407
Mus musculus	TSC1	MGD	MGI:1929183
Rattus norvegicus	TSC1	RGD	RGD:620124
Macaca mulatta	TSC1	VGNC	VGNC:78658
Felis catus	TSC1	VGNC	VGNC:66605
Canis familiaris	TSC1	VGNC	VGNC:47890
Others	TSC1	NCBI