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Aliases for TSC1 Gene

Aliases for TSC1 Gene

  • Tuberous Sclerosis 1 2 3
  • Tuberous Sclerosis 1 Protein 3 4
  • TSC 3 4
  • LAM 3 6
  • Tumor Suppressor 3
  • Hamartin 3
  • KIAA0243 4

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 focal cortical dysplasia, taylor balloon cell type. Among its related pathways are PI3K-Akt signaling pathway and Signaling by GPCR. GO annotations related to this gene include protein N-terminus binding and GTPase activating protein 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

Genomic Location for TSC1 Gene

Start:
132,891,348 bp from pter
End:
132,944,707 bp from pter
Size:
53,360 bases
Orientation:
Minus strand

Genomic View for TSC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    Alternative splice isoforms for TSC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSC1 Gene

Proteomics data for TSC1 Gene at MOPED

Post-translational modifications for TSC1 Gene

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

Other Protein References for TSC1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TSC1 Gene

Domains 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 :
  • Q92574
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:0005488 binding --
GO:0005515 protein binding IPI 10585443
GO:0030695 GTPase regulator activity IBA --
GO:0032794 GTPase activating protein binding IEA --
GO:0047485 protein N-terminus binding IPI 10806479
genes like me logo Genes that share ontologies with TSC1: view
genes like me logo Genes that share phenotypes with TSC1: view

Animal Models for TSC1 Gene

MGI Knock Outs for TSC1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for TSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IDA 10585443
GO:0005856 cytoskeleton --
GO:0005884 colocalizes_with actin filament IDA 10806479
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with TSC1: view

Pathways for TSC1 Gene

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

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:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006407 rRNA export from nucleus IMP 17308101
genes like me logo Genes that share ontologies with TSC1: view

Compounds for TSC1 Gene

(14) Novoseek inferred chemical compound relationships for TSC1 Gene

Compound -log(P) Hits PubMed IDs
rapamycin 88 83
phosphoinositide 44.8 4
phosphatidylinositol 30 5
glucose 2.7 3
guanosine 0 1

(1) PharmGKB related drug/compound annotations for TSC1 Gene

Drug/compound Annotation
everolimus
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:

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 for TSC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TSC1 Gene

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 expressions with TSC1: view

No data available for 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 35
  • 99.68 (n)
  • 99.66 (a)
TSC1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TSC1 35
  • 87.46 (n)
  • 88.7 (a)
TSC1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TSC1 35
  • 87.89 (n)
  • 88.92 (a)
TSC1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tsc1 35
  • 85.97 (n)
  • 87.73 (a)
Tsc1 16
Tsc1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSC1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tsc1 35
  • 85.44 (n)
  • 86.65 (a)
chicken
(Gallus gallus)
Aves TSC1 35
  • 77.09 (n)
  • 77.41 (a)
TSC1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSC1 36
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3740 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tsc1 35
  • 64.88 (n)
  • 62.63 (a)
zebrafish
(Danio rerio)
Actinopterygii tsc1a 35
  • 54.57 (n)
  • 45.67 (a)
tsc1a 36
  • 42 (a)
OneToMany
tsc1b 36
  • 48 (a)
OneToMany
wufa99f04 35
fruit fly
(Drosophila melanogaster)
Insecta Tsc1 36
  • 21 (a)
OneToOne
Tsc1 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
CSA.2393 36
  • 30 (a)
OneToMany
Species with no ortholog for TSC1:
  • 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 MAF
rs739441 -- 132,894,728(-) GCAGA(A/G)AGAAT utr-variant-3-prime
rs739442 -- 132,894,747(-) GTGCC(C/T)ACGGA utr-variant-3-prime
rs756769 -- 132,898,672(+) AATCA(C/T)GCAAA intron-variant
rs883838 -- 132,940,087(-) TTAGC(A/C)CCTGG intron-variant
rs999686 -- 132,911,624(-) ttttA(A/C)CCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
nsv831743 CNV Loss 17160897
nsv6745 CNV Insertion 18451855
nsv509329 CNV Insertion 20534489

Relevant External Links for TSC1 Gene

HapMap Linkage Disequilibrium report
TSC1
Human Gene Mutation Database (HGMD)
TSC1
Locus Specific Mutation Databases (LSDB)
TSC1

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

Disorders for TSC1 Gene

(3) OMIM Diseases for TSC1 Gene (605284)

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.
  • Focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]: Subtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development. {ECO:0000269 PubMed:12112044}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(84) Novoseek inferred disease relationships for TSC1 Gene

Disease -log(P) Hits PubMed IDs
tuberous sclerosis 98.7 164
lymphangioleiomyomatosis 93 28
hamartoma 91 104
angiomyolipoma 90.9 53
astrocytoma subependymal giant cell 90.3 20

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

GeneTests
TSC1
GeneReviews
TSC1
Genetic Association Database (GAD)
TSC1
Human Genome Epidemiology (HuGE) Navigator
TSC1
genes like me logo Genes that share disorders with TSC1: view

Publications for TSC1 Gene

  1. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. (PMID: 9242607) van Slegtenhorst M.A. … Kwiatkowski D.J. (Science 1997) 2 3 4 23
  2. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. (PMID: 10533067) Niida Y. … Ozelius L. (Hum. Mutat. 1999) 3 4 23
  3. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. (PMID: 10570911) Zhang H. … Takeshita K. (J. Hum. Genet. 1999) 3 4 23
  4. Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin. (PMID: 10585443) Nellist M. … van der Sluijs P. (J. Biol. Chem. 1999) 3 4 23
  5. Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations. (PMID: 10607950) Yamashita Y. … Hino O. (Am. J. Med. Genet. 2000) 3 4 23

Products for TSC1 Gene

  • Addgene plasmids for TSC1

Sources for TSC1 Gene

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