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Aliases for TSC1 Gene

Aliases for TSC1 Gene

  • Tuberous Sclerosis 1 2 3 5
  • Tuberous Sclerosis 1 Protein 3 4
  • 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]

GeneCards Summary for TSC1 Gene

TSC1 (Tuberous Sclerosis 1) is a Protein Coding gene. Diseases associated with TSC1 include Tuberous Sclerosis-1 and Lymphangioleiomyomatosis. Among its related pathways are Integrated Breast Cancer Pathway and mTOR signaling pathway (KEGG). 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

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
GH09F133112 0.7 FANTOM5 ENCODE 36.2 -183.7 -183652 33.7 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 RALGDS SETX GTF3C4 TSC1 LOC100130548 REXO4 TTF1 SURF6 GBGT1 LINC00094
GH09F133713 0.8 FANTOM5 Ensembl ENCODE 24.1 -769.6 -769640 3.6 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B DMAP1 YBX1 ZNF2 YY1 TSC1 SARDH DBH-AS1 LINC00094 ENSG00000273249 SURF6 COL5A1-AS1 GC09P133683
GH09F132943 0.4 ENCODE 20.4 +0.8 836 2.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SURF6 TSC1 SETX TTF1 AK8 GFI1B
GH09F133682 1.1 Ensembl ENCODE 13.3 -738.5 -738510 3.0 RING1 GTF2F1 KLF1 ZIC2 RAD21 ZNF335 HIC1 GLIS2 ZBTB48 POLR2A ENSG00000273249 TSC1 DBH-AS1 GC09P133683 SARDH
GH09F133534 0.6 ENCODE 13.3 -589.1 -589068 1.1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF766 ZNF143 ZNF207 DEK ENSG00000273249 TSC1 ADAMTSL2 FAM163B
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001316663 770 2001 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

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. Interacts with DOCK7. Interacts with FBXW5 and TBC1D7.

    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

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

No data available for Gene Families for TSC1 Gene

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.

Gene Ontology (GO) - Molecular Function for TSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9580671
GO:0030695 GTPase regulator activity IBA --
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

Flow Cytometry Products

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
Jensen Localization Image for TSC1 Gene COMPARTMENTS Subcellular localization image for TSC1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 3
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
vacuole 1

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:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005884 colocalizes_with actin filament IDA 10806479
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 1896
Aspirin Approved, Vet_approved Pharma Channel blocker 1112
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker 3624
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1896
Anti-Bacterial Agents Pharma 10884

(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:

Flow Cytometry Products

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 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.
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 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia TSC1 34 35
  • 87.89 (n)
cow
(Bos Taurus)
Mammalia TSC1 34 35
  • 87.46 (n)
oppossum
(Monodelphis domestica)
Mammalia TSC1 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tsc1 34 16 35
  • 85.97 (n)
rat
(Rattus norvegicus)
Mammalia Tsc1 34
  • 85.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 84 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves TSC1 34 35
  • 77.09 (n)
lizard
(Anolis carolinensis)
Reptilia TSC1 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tsc1 34
  • 64.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3740 34
zebrafish
(Danio rerio)
Actinopterygii tsc1a 34 35
  • 54.57 (n)
tsc1b 35
  • 48 (a)
OneToMany
wufa99f04 34
fruit fly
(Drosophila melanogaster)
Insecta Tsc1 36 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
CSA.2393 35
  • 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
rs118203347 A bladder tumor, untested 132,927,208(-) GCCAC(A/G)TGACA intron-variant, reference, missense
rs118203354 Tuberous sclerosis 1 (TSC1) [MIM:191100], untested 132,925,735(-) GCACC(C/T)CTTGG intron-variant, reference, missense, utr-variant-5-prime
rs118203368 Tuberous sclerosis 1 (TSC1) [MIM:191100], untested 132,925,600(-) TTTAC(C/T)AAAAT intron-variant, reference, missense, utr-variant-5-prime
rs118203385 A bladder tumor, untested 132,923,383(-) CATTT(C/G/T)TGGCC reference, missense
rs118203396 Tuberous sclerosis 1 (TSC1) [MIM:191100], Pathogenic 132,921,943(-) CCATC(C/T)CCATG reference, missense

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

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

Disorder Aliases PubMed IDs
tuberous sclerosis-1
  • tuberous sclerosis
lymphangioleiomyomatosis
  • lymphangioleiomyomatosis, somatic
focal cortical dysplasia, taylor balloon cell type
  • focal cortical dysplasia of taylor
tsc1-related lymphangioleiomyomatosis
angiomyolipoma
  • angiomyolipoma of kidney
- 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
  • 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: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. Missense mutations to the TSC1 gene cause tuberous sclerosis complex. (PMID: 18830229) Nellist M. … Halley D. (Eur. J. Hum. Genet. 2009) 3 4 22 64
  2. 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 46 64
  3. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. (PMID: 16464865) Chong-Kopera H. … Guan K.-L. (J. Biol. Chem. 2006) 3 4 22 64
  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. (Eur. J. Hum. Genet. 2005) 3 22 46 64
  5. [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism]. (PMID: 14756965) Feng J.H. … Yang C.W. (Zhonghua Er Ke Za Zhi 2003) 3 22 46 64

Products for TSC1 Gene

Sources for TSC1 Gene

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