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Aliases for TSC1 Gene

Aliases for TSC1 Gene

  • TSC Complex Subunit 1 2 3
  • Tuberous Sclerosis 1 Protein 3 4
  • Tuberous Sclerosis 1 2 5
  • TSC 3 4
  • Tumor Suppressor 3
  • Hamartin 3
  • KIAA0243 4
  • LAM 3

External Ids for TSC1 Gene

Previous HGNC Symbols for TSC1 Gene

  • TSC

Previous GeneCards Identifiers for TSC1 Gene

  • GC09M126791
  • GC09M127323
  • GC09M129120
  • GC09M131042
  • GC09M134756
  • GC09M135766
  • GC09M105260

Summaries for TSC1 Gene

Entrez Gene Summary for TSC1 Gene

  • This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

CIViC summary for TSC1 Gene

GeneCards Summary for TSC1 Gene

TSC1 (TSC Complex Subunit 1) is a Protein Coding gene. Diseases associated with TSC1 include Tuberous Sclerosis-1 and Focal Cortical Dysplasia, Type Ii, Somatic. Among its related pathways are Akt Signaling and 4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression. GO annotations related to this gene include binding and chaperone binding.

UniProtKB/Swiss-Prot for TSC1 Gene

  • In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling.

Gene Wiki entry for TSC1 Gene

Additional gene information for TSC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSC1 Gene

Genomics for TSC1 Gene

Regulatory Elements for TSC1 Gene

Enhancers for TSC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H133029 1.2 ENCODE 44.7 -85.3 -85337 2 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC ZC3H11A ZFP41 GLIS1 SETX TTF1 GTF3C5 TSC1 DDX31 MED22 GTF3C4 BRD3OS SPACA9 MED27
GH09H133146 1.7 FANTOM5 ENCODE dbSUPER 21.3 -203.1 -203112 3 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF766 GTF3C5 TSC1 DDX31 TTF1 BRD3 SETX RALGDS GTF3C4 SURF6 GC09M133093
GH09H133112 2.1 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -183.6 -183603 33 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D ZNF610 GLIS1 RCOR2 RALGDS GTF3C5 SETX BRD3 DDX31 TTF1 GTF3C4 TSC1 RPL7A GBGT1
GH09H133333 1.2 ENCODE 22 -389.9 -389914 4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SURF6 GTF3C5 LOC100130548 SETX SURF1 WDR5 TSC1 BRD3 DDX31 GTF3C4
GH09H133871 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -929.3 -929330 5 TBP PKNOX1 NFIB SIN3A RAD21 YY1 EGR1 RCOR1 FOS DEK ENSG00000273249 TSC1 GTF3C5 BRD3 VAV2 GC09M133930 GC09P133784
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSC1 on UCSC Golden Path with GeneCards custom track

Promoters for TSC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242511 870 1801 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D ZNF610 GLIS1

Genomic Location for TSC1 Gene

Chromosome:
9
Start:
132,891,348 bp from pter
End:
132,945,370 bp from pter
Size:
54,023 bases
Orientation:
Minus strand

Genomic View for TSC1 Gene

Genes around TSC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSC1 Gene

Proteins for TSC1 Gene

  • Protein details for TSC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92574-TSC1_HUMAN
    Recommended name:
    Hamartin
    Protein Accession:
    Q92574
    Secondary Accessions:
    • B7Z897
    • Q5VVN5

    Protein attributes for TSC1 Gene

    Size:
    1164 amino acids
    Molecular mass:
    129767 Da
    Quaternary structure:
    • Interacts with TSC2, leading to stabilize TSC2. In the absence of TSC2, TSC1 self-aggregates (PubMed:10585443, PubMed:15963462, PubMed:16464865, PubMed:9580671, PubMed:9809973, PubMed:28215400). Interacts with DOCK7 (PubMed:15963462). Interacts with FBXW5 (PubMed:18381890). Interacts with TBC1D7 (PubMed:17658474).

    Three dimensional structures from OCA and Proteopedia for TSC1 Gene

    Alternative splice isoforms for TSC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSC1 Gene

Post-translational modifications for TSC1 Gene

  • Phosphorylation at Ser-505 does not affect interaction with TSC2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TSC1 Gene

Domains & Families for TSC1 Gene

Gene Families for TSC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for TSC1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q92574

UniProtKB/Swiss-Prot:

TSC1_HUMAN :
  • The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.
Domain:
  • The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.
genes like me logo Genes that share domains with TSC1: view

Function for TSC1 Gene

Molecular function for TSC1 Gene

GENATLAS Biochemistry:
hamartin,130kDa,widely expressed,homolog of a yeast protein of unknown function,putative growth suppressor gene,interacting with tuberin (TBR) through its coiled coil domain,localized to cytoplasmic vesicles,expressed in neuroglial cells of TSC tubers
UniProtKB/Swiss-Prot Function:
In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling.

Phenotypes From GWAS Catalog for TSC1 Gene

Gene Ontology (GO) - Molecular Function for TSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9580671
GO:0032794 GTPase activating protein binding IEA --
GO:0047485 protein N-terminus binding IPI 10806479
GO:0051087 chaperone binding IPI 10585443
genes like me logo Genes that share ontologies with TSC1: view
genes like me logo Genes that share phenotypes with TSC1: view

Human Phenotype Ontology for TSC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSC1 Gene

MGI Knock Outs for TSC1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TSC1
  • Applied Biological Materials Clones for TSC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TSC1 Gene

Localization for TSC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSC1 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSC1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA,IDA 9580671
GO:0005811 lipid particle IDA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TSC1: view

Pathways & Interactions for TSC1 Gene

genes like me logo Genes that share pathways with TSC1: view

SIGNOR curated interactions for TSC1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for TSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0001843 neural tube closure IEA --
GO:0001952 regulation of cell-matrix adhesion IMP 10806479
GO:0002250 adaptive immune response IEA --
GO:0006407 rRNA export from nucleus IMP 17308101
genes like me logo Genes that share ontologies with TSC1: view

Drugs & Compounds for TSC1 Gene

(16) Drugs for TSC1 Gene - From: PharmGKB, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1977
Aspirin Approved, Vet_approved Pharma Channel blocker 1196
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker 3778
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1977
Anti-Bacterial Agents Pharma 11831

(7) Additional Compounds for TSC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TSC1: view

Transcripts for TSC1 Gene

Unigene Clusters for TSC1 Gene

Tuberous sclerosis 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TSC1
  • Applied Biological Materials Clones for TSC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TSC1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a ·
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - - -
SP6: - - -
SP7: -
SP8:
SP9: -
SP10:
SP11:

ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TSC1 Gene

GeneLoc Exon Structure for
TSC1
ECgene alternative splicing isoforms for
TSC1

Expression for TSC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSC1 Gene

Protein differential expression in normal tissues from HIPED for TSC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.8), Frontal cortex (10.0), Fetal Brain (8.6), and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TSC1 Gene



Protein tissue co-expression partners for TSC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TSC1 Gene:

TSC1

SOURCE GeneReport for Unigene cluster for TSC1 Gene:

Hs.370854

mRNA Expression by UniProt/SwissProt for TSC1 Gene:

Q92574-TSC1_HUMAN
Tissue specificity: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.

Evidence on tissue expression from TISSUES for TSC1 Gene

  • Nervous system(4.4)
  • Blood(4.3)
  • Liver(4.3)
  • Bone marrow(4.2)
  • Kidney(2.6)
  • Skin(2.3)
  • Heart(2.2)
  • Lung(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • scalp
  • skull
  • thyroid
  • tooth
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • digit
  • finger
  • hand
  • lower limb
  • nail
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with TSC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TSC1 Gene

Orthologs for TSC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSC1 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia TSC1 33 34
  • 87.89 (n)
cow
(Bos Taurus)
Mammalia TSC1 33 34
  • 87.46 (n)
oppossum
(Monodelphis domestica)
Mammalia TSC1 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tsc1 33 16 34
  • 85.97 (n)
rat
(Rattus norvegicus)
Mammalia Tsc1 33
  • 85.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves TSC1 33 34
  • 77.09 (n)
lizard
(Anolis carolinensis)
Reptilia TSC1 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tsc1 33
  • 64.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3740 33
zebrafish
(Danio rerio)
Actinopterygii tsc1a 33 34
  • 54.57 (n)
tsc1b 34
  • 48 (a)
OneToMany
wufa99f04 33
fruit fly
(Drosophila melanogaster)
Insecta Tsc1 35 34
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
CSA.2393 34
  • 30 (a)
OneToMany
Species where no ortholog for TSC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TSC1 Gene

ENSEMBL:
Gene Tree for TSC1 (if available)
TreeFam:
Gene Tree for TSC1 (if available)

Paralogs for TSC1 Gene

No data available for Paralogs for TSC1 Gene

Variants for TSC1 Gene

Sequence variations from dbSNP and Humsavar for TSC1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs118203342 untested, Tuberous sclerosis 1 (TSC1) [MIM:191100] 132,927,258(-) CTGGA(A/C)ACCAG intron-variant, reference, missense
rs118203345 untested, Tuberous sclerosis 1 (TSC1) [MIM:191100] 132,927,229(-) CATCC(C/G/T)GACCA intron-variant, reference, missense
rs118203347 untested, A bladder tumor 132,927,208(-) GCCAC(A/G)TGACA intron-variant, reference, missense
rs118203354 untested, Tuberous sclerosis 1 (TSC1) [MIM:191100] 132,925,735(-) GCACC(C/T)CTTGG intron-variant, reference, missense, utr-variant-5-prime
rs118203368 untested, Tuberous sclerosis 1 (TSC1) [MIM:191100] 132,925,600(-) TTTAC(C/T)AAAAT intron-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TSC1 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV deletion 23290073
esv3621927 CNV gain 21293372
nsv1038328 CNV loss 25217958
nsv471879 CNV novel sequence insertion 20440878
nsv509329 CNV insertion 20534489
nsv6745 CNV insertion 18451855
nsv831743 CNV loss 17160897

Variation tolerance for TSC1 Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.45; 71.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TSC1 Gene

Human Gene Mutation Database (HGMD)
TSC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSC1 Gene

Disorders for TSC1 Gene

MalaCards: The human disease database

(38) MalaCards diseases for TSC1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tuberous sclerosis-1
  • tuberous sclerosis
focal cortical dysplasia, type ii, somatic
  • focal cortical dysplasia of taylor
lymphangioleiomyomatosis
  • lymphangioleiomyomatosis, somatic
tuberous sclerosis
  • bourneville's disease
congenital heart defects, hamartomas of tongue, and polysyndactyly
  • heart defect-tongue hamartoma-polysyndactyly syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TSC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TSC1_HUMAN
  • Focal cortical dysplasia 2 (FCORD2) [MIM:607341]: A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells. {ECO:0000269 PubMed:28215400}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lymphangioleiomyomatosis (LAM) [MIM:606690]: Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex. {ECO:0000269 PubMed:11829138}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tuberous sclerosis 1 (TSC1) [MIM:191100]: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. {ECO:0000269 PubMed:10227394, ECO:0000269 PubMed:10533069, ECO:0000269 PubMed:10570911, ECO:0000269 PubMed:10874311, ECO:0000269 PubMed:11829138, ECO:0000269 PubMed:18830229, ECO:0000269 PubMed:22161988, ECO:0000269 PubMed:9328481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TSC1 Gene

tuberous sclerosis 1,characterized by the development of hamartomas in cerebral cortex responsible of seizures retardation and mental disorder including autism,cortical tuber,hamartomas in other organs,including subependymal nodules,facial angiofibromas,subungual fibromas,forehead plaques,shagreen patches,cardiac rhabdomyomas and renal angiomyololipomas

Relevant External Links for TSC1

Genetic Association Database (GAD)
TSC1
Human Genome Epidemiology (HuGE) Navigator
TSC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSC1
genes like me logo Genes that share disorders with TSC1: view

Publications for TSC1 Gene

  1. Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. (PMID: 19175396) Gumbinger C … Fauser S (Epilepsia 2009) 3 22 45 60
  2. Missense mutations to the TSC1 gene cause tuberous sclerosis complex. (PMID: 18830229) Nellist M … Halley D (European journal of human genetics : EJHG 2009) 3 4 22 60
  3. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. (PMID: 16464865) Chong-Kopera H … Guan KL (The Journal of biological chemistry 2006) 3 4 22 60
  4. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. (PMID: 15798777) Sancak O … van den Ouweland A (European journal of human genetics : EJHG 2005) 3 22 45 60
  5. [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism]. (PMID: 14756965) Feng JH … Yang CW (Zhonghua er ke za zhi = Chinese journal of pediatrics 2003) 3 22 45 60

Products for TSC1 Gene

  • Addgene plasmids for TSC1