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TSC1 Gene

protein-coding   GIFtS: 71
GCID: GC09M135766

Tuberous Sclerosis 1


(Previous symbol: TSC)
  See TSC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tuberous Sclerosis 11 2     hamartin2
TSC1 2 3     Tumor Suppressor2
Tuberous Sclerosis 1 Protein2 3     KIAA02433
LAM2 5     

External Ids:    HGNC: 123621   Entrez Gene: 72482   Ensembl: ENSG000001656997   OMIM: 6052845   UniProtKB: Q925743   

Export aliases for TSC1 gene to outside databases

Previous GC identifers: GC09M126791 GC09M127323 GC09M129120 GC09M131042 GC09M132796 GC09M134756 GC09M105260


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 intracranial hypertension, and lymphangioleiomyomatosis. GO annotations related to this gene include protein N-terminus binding and GTPase activating protein binding.

UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574
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 Wiki entry for TSC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TSC1 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   C/EBPbeta   oct-B3   oct-B2   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TSC1 promoter sequence
   Search Chromatin IP Primers for TSC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TSC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.13   HGNC cytogenetic band: 9q34

TSC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSC1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M135766:  view genomic region     (about GC identifiers)

Start:
135,766,735 bp from pter      End:
135,820,020 bp from pter
Size:
53,286 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574 (See protein sequence)
Recommended Name: Hamartin  
Size: 1164 amino acids; 129767 Da
Subunit: Interacts with TSC2, leading to stabilize TSC2. In the absence of TSC2, TSC1 self-aggregates. Interacts
with DOCK7. Interacts with FBXW5 and TBC1D7
Secondary accessions: B7Z897 Q5VVN5
Alternative splicing: 2 isoforms:  Q92574-1   Q92574-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TSC1: NX_Q92574

Explore proteomics data for TSC1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-505 does not affect interaction with TSC21
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TSC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000359.1  NP_001155898.1  NP_001155899.1  

    ENSEMBL proteins: 
     ENSP00000298552   ENSP00000386093   ENSP00000394524   ENSP00000444017  
    Reactome Protein details: Q92574

    TSC1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for TSC1
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    Novus Biologicals TSC1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TSC1

     
    Search eBioscience for Proteins for TSC1 

    TSC1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TSC1
    R&D Systems Antibodies for TSC1
    Cell Signaling Technology (CST) Antibodies for TSC1 
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    Novus Biologicals TSC1 Antibodies
    Abcam antibodies for TSC1
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    ThermoFisher Antibodies for TSC1
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    TSC1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TSC1
    Cloud-Clone Corp. CLIAs for TSC1
    Search eBioscience for ELISAs for TSC1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007483 Hamartin

    Graphical View of Domain Structure for InterPro Entry Q92574

    ProtoNet protein and cluster: Q92574

    1 Blocks protein domain: IPB007483 Hamartin

    UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574
    Domain: The C-terminal putative coiled-coil domain is necessary for interaction with TSC2


    Find genes that share domains with TSC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TSC1_HUMAN, Q92574
    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

         Genatlas biochemistry entry for TSC1:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI10585443
    GO:0030695GTPase regulator activity IEA--
    GO:0032794GTPase activating protein binding IEA--
    GO:0047485protein N-terminus binding IPI10806479
         
    Find genes that share ontologies with TSC1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for TSC1:
     Decreased viability of wild-ty  Upregulation of Wnt/beta-caten 

         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tsc1) (see all 17):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  integument  liver/biliary system  mortality/aging 
     muscle  nervous system  renal/urinary system  reproductive system  respiratory system 

    Find genes that share phenotypes with TSC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tsc1tm1.1Djk for TSC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TSC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TSC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TSC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TSC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TSC1:
    hsa-mir-106b-5p (MIRT044265), hsa-mir-32-5p (MIRT006630), hsa-mir-320a (MIRT044756), hsa-mir-193b-3p (MIRT041346), hsa-mir-335-5p (MIRT019220)

    Block miRNA regulation of human, mouse, rat TSC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TSC1 (see all 123):
    hsa-miR-26a-2* hsa-miR-361-5p hsa-miR-3152-3p hsa-miR-193a-3p hsa-miR-15a hsa-miR-128 hsa-miR-200a hsa-miR-30d
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TSC1

    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for TSC1 

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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12348) for TSC1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TSC1_HUMAN, Q92574: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association
    with membranes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    cytoskeleton2
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA9580671
    GO:0005829cytosol TAS--
    GO:0005884colocalizes with actin filament IDA10806479
    GO:0005938cell cortex IDA10806479
    GO:0016020membrane IDA16636147

    Find genes that share ontologies with TSC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TSC1 About   (see all 21)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Development IGF 1 receptor signaling
    Development IGF RI signaling0.49
    Development IGF 1 receptor signaling0.48
    Signal transduction AKT signaling0.49
    2Insulin receptor signalling cascade
    Insulin receptor signalling cascade0.94
    Signaling by Insulin receptor0.80
    IRS-related events0.94
    PKB-mediated events0.41
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    mTOR signalling0.39
    IRS-mediated signalling0.92
    TOR signaling0.32
    3Translation Insulin regulation of translation
    Translation Insulin regulation of translation0.59
    mTOR signaling pathway0.34
    Translation Regulation activity of EIF4F0.44
    Insulin signaling pathway0.32
    4Akt Signaling
    Akt Signaling0.60
    5Nanog in Mammalian ESC Pluripotency
    14-3-3 Induced Intracellular Signaling0.59


    Find genes that share SuperPaths with TSC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for TSC1
        Akt Signaling Pathway

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TSC1 (see all 6)
        AMPK Enzyme Complex Pathway
    Molecular Mechanisms of Cancer
    Glioblastoma Multiforme
    mTOR Pathway
    14-3-3 Induced Intracellular Signaling

    2 Cell Signaling Technology (CST) Pathways for TSC1
        Translational Control
    PI3K / Akt Signaling

    4 GeneGo (Thomson Reuters) Pathways for TSC1
        Translation Insulin regulation of translation
    Signal transduction AKT signaling
    Translation Regulation of EIF4F activity
    Development IGF-1 receptor signaling

    Selected BioSystems Pathways for TSC1 (see all 8)
        TOR signaling
    Insulin Signaling
    AMPK signaling
    Integrated Breast Cancer Pathway
    Signaling Pathways in Glioblastoma

    2 Reactome Pathways for TSC1
        Regulation of Rheb GTPase activity by AMPK
    Inhibition of TSC complex formation by PKB


    3 Kegg Pathways  (Kegg details for TSC1):
        mTOR signaling pathway
    PI3K-Akt signaling pathway
    Insulin signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TSC1: 
              mTOR Signaling in human mouse rat
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Primary Cilia in human mouse rat
              p53 Signaling Pathway in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TSC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TSC1 (Q925741, 2, 3 ENSP000002985524) via UniProtKB, MINT, STRING, and/or I2D (see all 154)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSC2P498151, 2, 3, ENSP000002194764EBI-1047085,EBI-396587 MINT-7712436 MINT-8057200 MINT-16238 MINT-8057213 I2D: score=10 STRING: ENSP00000219476
    YWHABP319462, 3, ENSP000003001614MINT-50948 I2D: score=5 STRING: ENSP00000300161
    YWHAGP619812, 3, ENSP000003063304MINT-50797 I2D: score=5 STRING: ENSP00000306330
    IKBKBO149201, 3, ENSP000003391514EBI-1047085,EBI-81266 I2D: score=2 STRING: ENSP00000339151
    HBA1P699053, ENSP000003224214I2D: score=2 STRING: ENSP00000322421
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0001843neural tube closure IEA--
    GO:0001952regulation of cell-matrix adhesion IMP10806479
    GO:0006407rRNA export from nucleus IMP17308101
    GO:0006417regulation of translation IDA17308101

    Find genes that share ontologies with TSC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TSC1

    Selected Novoseek inferred chemical compound relationships for TSC1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rapamycin 88 126 19917366 (4), 19539245 (3), 16453317 (3), 12384518 (2) (see all 70)
    phosphoinositide 44.8 4 12773160 (1), 16231158 (1), 12773161 (1), 12773163 (1)
    phosphatidylinositol 30 6 17013611 (1), 16459993 (1), 17910583 (1), 15809346 (1) (see all 5)
    glucose 2.7 3 17948886 (2), 18650261 (1)
    guanosine 0 1 14668532 (1)
    threonine 0 2 14993219 (1), 18067639 (1)
    tyrosine 0 1 11741832 (1)
    pd 98,059 0 2 19539245 (2)
    glycogen 0 2 12511557 (1), 19464003 (1)
    alanine 0 1 14551205 (1)

    1 PharmGKB related drug/compound annotation for TSC1 gene    About this table
    Drug/compound PharmGKB Annotation
    everolimus



    Find genes that share compounds with TSC1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TSC1 gene (4 alternative transcripts): 
    NM_000368.4  NM_001162426.1  NM_001162427.1  NM_001008567.1  

    Unigene Cluster for TSC1:

    Tuberous sclerosis 1
    Hs.370854  [show with all ESTs]
    Unigene Representative Sequence: NM_000368
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298552(uc004cca.2 uc004ccb.3 uc011mcq.1 uc011mcr.2 uc011mcs.1)
    ENST00000493467(uc004ccc.1) ENST00000403810(uc004cce.1) ENST00000461879
    ENST00000475903 ENST00000490179 ENST00000440111 ENST00000545250
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TSC1 (see all 123):
    hsa-miR-26a-2* hsa-miR-361-5p hsa-miR-3152-3p hsa-miR-193a-3p hsa-miR-15a hsa-miR-128 hsa-miR-200a hsa-miR-30d
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    Inhib. RNA
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    GenScript Custom all cDNA clones Services for TSC1
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    Addgene plasmids for TSC1 
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    eBioscience FlowRNA Probe Sets ( VA1-12348) for TSC1 

    Additional mRNA sequence: 

    AB190910.1 AF013168.1 AK297326.1 AK299654.1 AK303030.1 AK308412.1 BC047772.2 BC070032.1 
    BC108668.1 BC121000.2 D87683.1 

    8 DOTS entries:

    DT.215668  DT.100650171  DT.92465972  DT.92432512  DT.121207875  DT.121207866  DT.91699779  DT.121207872 

    Selected AceView cDNA sequences (see all 194):

    CR622174 AA455968 BQ010082 CN478627 BF927782 D87683 BI826974 BQ712409 
    AI972371 F37163 BF475361 AU132999 BX470369 AI702940 BU735244 BE223028 
    CA489296 BC047772 AU279606 CD673619 AU133424 BM991590 BM701217 BQ025971 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TSC1 (see all 11)    About this scheme

    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:                          -           -                             -                                                                                       

    ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for TSC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TSC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAACAATCC
    TSC1 Expression
    About this image


    TSC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    TSC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TSC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370854

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

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              PI3K-AKT Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TSC1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tsc11 , 5 tuberous sclerosis 11, 5 85.97(n)1
    87.73(a)1
      2 (19.38 cM)5
    649301  NM_022887.31  NP_075025.21 
     286412285 
    chicken
    (Gallus gallus)
    Aves TSC11 tuberous sclerosis 1 77.09(n)
    77.41(a)
      417166  XM_415449.4  XP_415449.2 
    lizard
    (Anolis carolinensis)
    Reptilia TSC16
    tuberous sclerosis 1
    59(a)
    1 ↔ 1
    GL344213.1(21-27853)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.37402 Xenopus laevis transcribed sequence with moderate similarity more 76.1(n)    BI442059.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa99f042 wufa99f04 73.63(n)   337167  BC055190.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tsc13 regulation of cell cycle 31(a)   95E4   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TSC1 (see all 1530)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs758200361,2,,4
    CTuberous sclerosis 1 (TSC1)4 untested1135795774(+) CTGCTA/C/GTATCA 9 Q E * mis1 stg10--------
    VAR_0543914
    Tuberous sclerosis 1 (TSC1)4--see VAR_0543912 R Q mis40--------
    VAR_0094014
    Tuberous sclerosis 1 (TSC1)4--see VAR_0094012 M R mis40--------
    VAR_0543884
    A bladder tumor4--see VAR_0543882 F C mis40--------
    VAR_0706374
    Tuberous sclerosis 1 (TSC1)4--see VAR_0706372 L P mis40--------
    VAR_0543904
    A bladder tumor4--see VAR_0543902 F L mis40--------
    VAR_0094084
    Tuberous sclerosis 1 (TSC1)4--see VAR_0094082 A E mis40--------
    VAR_0543894
    A bladder tumor4--see VAR_0543892 H D mis40--------
    VAR_0706434
    Tuberous sclerosis 1 (TSC1)4--see VAR_0706432 L P mis40--------
    VAR_0543864
    A bladder tumor4--see VAR_0543862 H R mis40--------

    HapMap Linkage Disequilibrium report for TSC1 (135766735 - 135820020 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TSC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739138CNV Deletion23290073
    nsv509329CNV Insertion20534489
    nsv6745CNV Insertion18451855
    nsv831743CNV Loss17160897

    Human Gene Mutation Database (HGMD): TSC1
    Locus Specific Mutation Databases (LSDB): TSC1

    5 Site Specific Mutation Identification with PCR Assays for TSC1:
    Cosmic IdAA Change
    48825p.R204L
    48824p.P590S
    28285p.L557fs*72
    35731p.S1043N
    26861p.W164*
    SeqTarget long-range PCR primers for resequencing TSC1
    DNA2.0 Custom Variant and Variant Library Synthesis for TSC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605284   
    OMIM disorders: 191100  606690  607341  
    UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574
  • 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. 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. Note=The disease may be caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for TSC1 (see all 21):    
    About MalaCards
    intracranial hypertension    lymphangioleiomyomatosis    focal cortical dysplasia, taylor balloon cell type    focal cortical dysplasia of taylor
    angiomyolipoma    obstructive hydrocephalus    tsc1-related lymphangioleiomyomatosis    tuberous sclerosis
    kidney angiomyolipoma    hepatic angiomyolipoma    subependymal giant cell astrocytoma    tuberous sclerosis complex
    cowden disease    peutz-jeghers syndrome    aortic disease    hydrocephalus
    learning disability    pleomorphic xanthoastrocytoma    megalencephaly    pilocytic astrocytoma

    8 diseases from the University of Copenhagen DISEASES database for TSC1:
    Tuberous sclerosis     Lymphangioleiomyomatosis     Subependymal giant cell astrocytoma     Kidney angiomyolipoma
    Genetic disorder     Angiomyolipoma     Intellectual disability     Autistic disorder

    Find genes that share disorders with TSC1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TSC1 gene (see all 84)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tuberous sclerosis 98.7 724 11307618 (4), 20498439 (3), 9803264 (3), 15072102 (3) (see all 99)
    lymphangioleiomyomatosis 93 36 15257730 (2), 20235887 (2), 7791386 (1), 16424383 (1) (see all 26)
    hamartoma 91 127 18292222 (3), 11468687 (2), 8950679 (2), 10806479 (2) (see all 89)
    angiomyolipoma 90.9 67 10349994 (5), 19265534 (3), 15856327 (2), 18310401 (2) (see all 40)
    astrocytoma subependymal giant cell 90.3 24 15072102 (4), 15624760 (2), 8928613 (1), 18673443 (1) (see all 16)
    angiofibroma 85.8 30 12641776 (6), 10372905 (3), 18292222 (1), 10534239 (1) (see all 16)
    lymphangioleiomyoma 84.7 1 20043511 (1)
    kidney angiomyolipoma 82.3 6 17932460 (2), 11355103 (1), 19265534 (1)
    lymphangiomyomatosis 81 3 18414839 (1), 16382052 (1), 11208653 (1)
    rhabdomyoma 78.8 16 18414839 (2), 17357805 (2), 16877242 (2), 16095035 (1) (see all 11)

    Genatlas disease: TSC1
    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

    GeneTests: TSC1
    GeneReviews: TSC1
    Genetic Association Database (GAD): TSC1
    Human Genome Epidemiology (HuGE) Navigator: TSC1 (16 documents)

    Export disorders for TSC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TSC1 gene, integrated from 10 sources (see all 575):
    (articles sorted by number of sources associating them with TSC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. (PubMed id 9242607)1, 2, 3, 9 van Slegtenhorst M.A....Kwiatkowski D.J. (Science 1997)
    2. Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. (PubMed id 9924605)1, 2, 4 Kwiatkowska J.... Kwiatkowski D.J. (Ann. Hum. Genet. 1998)
    3. The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. (PubMed id 10806479)1, 3, 9 Lamb R.F....Hall A. (Nat. Cell Biol. 2000)
    4. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. (PubMed id 10533067)1, 2, 9 Niida Y.... Ozelius L. (Hum. Mutat. 1999)
    5. Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. (PubMed id 19175396)1, 4, 9 Gumbinger C....Fauser S. (Epilepsia 2009)
    6. Missense mutations to the TSC1 gene cause tuberous sclerosis complex. (PubMed id 18830229)1, 2, 9 Nellist M....Halley D. (Eur. J. Hum. Genet. 2009)
    7. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. (PubMed id 9328481)1, 2, 9 Jones A.C.... Cheadle J.P. (Hum. Mol. Genet. 1997)
    8. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. (PubMed id 16464865)1, 2, 9 Chong-Kopera H.... Guan K.-L. (J. Biol. Chem. 2006)
    9. 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. (PubMed id 15798777)1, 4, 9 Sancak O....van den Ouweland A. (Eur. J. Hum. Genet. 2005)
    10. [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism]. (PubMed id 14756965)1, 4, 9 Feng J.H....Yang C.W. (Zhonghua Er Ke Za Zhi 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7248 HGNC: 12362 AceView: TSC1 Ensembl:ENSG00000165699 euGenes: HUgn7248
    ECgene: TSC1 Kegg: 7248 H-InvDB: TSC1

    (According to HUGE)
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    HUGE: KIAA0243

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TSC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TSC1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TSC1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TSC1 gene:
    Search GeneIP for patents involving TSC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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