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TSC1 Gene

protein-coding   GIFtS: 75

GC09M105260
tuberous sclerosis 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: TSC)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
tuberous sclerosis 11 2     TSC2 3
KIAA02431 2 3     OTTHUMP000000224392
LAM1 2 5     OTTHUMP000001983782
hamartin1 2     MGC869872
Tuberous sclerosis 1 protein2 3     tumor suppressor2

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

Export aliases for TSC1 gene to outside databases

Previous GC identifers: GC09M126791 GC09M127323 GC09M129120 GC09M131042 GC09M132796 GC09M134756 GC09M135766


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TSC1:
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)

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

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TSC1 gene promoter:
         HNF-4alpha2   C/EBPalpha   NF-1   COUP-TF1   MEF-2A   YY1   GATA-1   GATA-3   POU2F2 (Oct-2.1)   POU2F2C   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for TSC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M105260:  view genomic region     (about GC identifiers)

Start:
105,260,658 bp from pter
End:
105,313,711 bp from pter
Size:
53,054 bases
Orientation:
minus strand

1 alternative location:
Chr9- 135,766,735-135,820,020     
RefSeq DNA sequence:
NC_000009.11  NT_035014.4  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

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
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with
membranes
Secondary accessions: Q5VVN5

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

Post-translational modifications:

  • Phosphorylation at Ser-505 does not affect interaction with TSC2. Phosphorylated upon DNA damage, probably by ATM or
  • ATR1
  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000393473 ENSP00000298552 ENSP00000386093 ENSP00000394524 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: TSC1
    GenScript Custom Purified and Recombinant Proteins Services for TSC1 
    Novus Biologicals Proteins for TSC1
    Novus Biologicals Lysate for TSC1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/12 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 12):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624 membrane fraction IDA16636147
    GO:0005737 cytoplasm IDA9580671
    GO:0005792 microsome IEA--
    GO:0005829 cytosol TAS--
    GO:0005884colocalizes with actin filament IDA10806479
    About this table

    TSC1 for ontologies           About GeneDecksing



    Antibodies for TSC1: 
    Millipore Mono- and Polyclonal Antibodies for the study of TSC1
    Sigma-Aldrich Antibodies for TSC1
    R&D Systems Antibodies for TSC1
    Cell Signaling Technology (CST) Antibodies for TSC1 (TSC1, Hamartin/TSC1)
    OriGene Antibodies (see all 4): TSC1
    GenScript Custom Superior Antibodies Services for TSC1 
    Novus Biologicals Antibodies for TSC1
    Epitomics antibodies for TSC1

    Assays for TSC1: 
    Millipore Kits and Assays for the Analysis of TSC1
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TSC1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for TSC1 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TSC1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007483 Hamartin

    Graphical View of Domain Structure for InterPro Entry Q92574

    ProtoNet protein and cluster: Q92574

    1 Blocks protein family: IPB007483 Hamartin

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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Millipore RNAi Products for the Analysis of TSC1 Gene knock-down
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for TSC1
    Sigma-Aldrich shRNA Panels and shRNA for TSC1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): TSC1
    OriGene shRNA RFP (see all 4): TSC1
    OriGene basic RS shRNA (see all 4): TSC1
    OriGene siRNA (see all 4): TSC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of TSC1 
    miRNA:Sigma-Aldrich microRNA Mimics for TSC1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of TSC1 
    8/28 SABiosciences Assays for microRNAs that regulate TSC1 (see all 28):
    hsa-miR-361-5p hsa-miR-128 hsa-miR-25 hsa-miR-200a hsa-miR-301a hsa-miR-517b hsa-miR-451 hsa-miR-508-3p

    Gene
    Editing:
    Sigma-Aldrich CompoZr Knockout ZFN for TSC1 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): TSC1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): TSC1
    OriGene untagged cDNA clones in CMV expression vector: TSC1
    OriGene 3'-UTR clone (see all 3): TSC1 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: TSC1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for TSC1 

    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

    5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488 binding ----
    GO:0005515 protein binding IPI10585443
    GO:0030695 GTPase regulator activity IEA--
    GO:0032794 GTPase activating protein binding IEA--
    GO:0047485 protein N-terminus binding IPI12226091
    About this table

    TSC1 for ontologies           About GeneDecksing

    Animal Models: 15/17 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tsc1) (see all 17):

    behavior/neurologicalcardiovascular systemembryogenesisgrowth/sizehearing/vestibular/ear
    homeostasis/metabolismlethality-postnatallethality-prenatal/perinatallife span-post-weaning/agingliver/biliary system
    musclenervous systemrenal/urinary systemrespiratory systemskeleton

    TSC1 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    TSC1 for pathways           About GeneDecksing

    4 Millipore Pathways for TSC1
        Translation Insulin regulation of translation
    Signal transduction AKT signaling
    Translation Regulation activity of EIF4F
    Development IGF-RI signaling

    5/7 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  TSC1 (see all 7)
        Insulin Receptor Signaling
    Glioblastoma Multiforme Signaling
    HER-2 Signaling in Breast Cancer
    mTOR Signaling
    14-3-3-mediated Signaling

    3 Cell Signaling Technology (CST) Pathways for TSC1
        Translational Control: Regulation of eIF2
    Insulin Receptor Signaling
    Akt/PKB Signaling

    2 Kegg Pathways  (Kegg details for TSC1):
        hsa04150 mTOR signaling pathway
    hsa04910 Insulin signaling pathway

        SABiosciences Pathway-Focused PCR Arrays including TSC1 (see all 4): PAHS-027A PAHS-058A  

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for TSC1
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TSC1

    5/21 Interacting proteins for TSC1 (Q925741, 2 ENSP000002985523) via UniProtKB, MINT, and/or STRING (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSC2P498151, 2, ENSP000002194763EBI-1047085,EBI-396587 MINT-7712436 MINT-8057200 MINT-16238 MINT-8057213 STRING: ENSP00000219476
    IKBKBO149201EBI-1047085,EBI-81266
    MAPK14Q165391EBI-1047085,EBI-73946
    NGFRAP1Q009941EBI-1047085,EBI-741753
    DAPK1P533552MINT-8057213
    About this table

    5/31 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 31):

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

    TSC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    TSC1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TSC1
    10/14 Novoseek chemical compound relationships for TSC1 gene (see all 14)
    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)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Millipore RNAi Products for the Analysis of TSC1 Gene knock-down
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for TSC1
    Sigma-Aldrich shRNA Panels and shRNA for TSC1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): TSC1
    OriGene shRNA RFP (see all 4): TSC1
    OriGene basic RS shRNA (see all 4): TSC1
    OriGene siRNA (see all 4): TSC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of TSC1 
    miRNA: Sigma-Aldrich microRNA Mimics for TSC1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of TSC1 
    8/28 SABiosciences Assays for microRNAs that regulate TSC1 (see all 28):
    hsa-miR-361-5p hsa-miR-128 hsa-miR-25 hsa-miR-200a hsa-miR-301a hsa-miR-517b hsa-miR-451 hsa-miR-508-3p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): TSC1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): TSC1
    OriGene untagged cDNA clones in CMV expression vector: TSC1
    OriGene 3'-UTR Clone (see all 3): TSC1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: TSC1 
    Primers: OriGene genome-wide validated SYBR primer pairs: TSC1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for TSC1: PPH00244A

    REFSEQ mRNAs for TSC1 gene (3 alternative transcripts): 

    NM_000368.4  NM_001162426.1  NM_001162427.1  

    Additional cDNA sequence: 

    AB190910.1 AF013168.1 AK297326.1 AK299654.1 AK303030.1 AK308412.1 BC047772.2 BC070032.1 
    BC108668.1 BC121000.2 CR622174.1 D87683.1 

    8 DOTS entries:

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

    24/194 AceView cDNA sequences (see all 194):

    BF447297 AA676652 BQ440277 BX470369 AI497695 AA279329 BM701217 BM717889 
    BC047772 BM668960 BI826974 CB161451 AW135340 AU133424 CR622174 BQ025971 
    AI194008 AW204605 BM991590 BM818698 BE221490 BQ712409 AA455968 BQ898588 

    highest scoring ESTs for TSC1:

    AF013168 AU279606 BI463204 BQ440277 BU162008 AA019928 AA215977 AA279329 AA279895 AA343088 

    Unigene Cluster for TSC1:

    Tuberous sclerosis 1
    Hs.370854  [show with all ESTs]
    Unigene Representative Sequence: NM_000368


    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TSC1 (see all 11)

    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:                                                      

    About this scheme

    ECgene alternative splicing isoforms for TSC1
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000424271(uc004ccd.2 uc004cce.1) ENST00000490179 ENST00000493467(uc004ccc.1)
    ENST00000461879 ENST00000298552(uc004cca.2 uc004ccb.3 uc011mcq.1 uc011mcr.1 uc011mcs.1)
    ENST00000403810 ENST00000475903 ENST00000440111

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    TSC1 expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching TSC1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    32599_at2, 3 U95-A 1 0.94 1.00 0.44 0.94 AF013168 1.00 1.00 1.00 1
    55939_at*2, 3 U95-B 1 0.44 1.00 0.29 1.07 AI732454 0.40 1.00 0.76 1
    209390_at2, 3 U133-A 1 0.91 1.00 -- -- AF013168 1.00 1.00 1.00 1
    233570_at*2, 3 U133-B 1 0.27 1.00 -- -- AJ011377 0.20 1.00 0.72 1
    209390_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    233570_at*2 U133Plus2 1 0.27 1.00 -- -- -- -- -- -- --
    About this table

    TSC1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    TSC1 gene expression
    TSC1 gene electronic northern expression
    TSC1 gene sage expression
    About these images

    CGAP SAGE TAG: TCAACAATCC

    SOURCE GeneReport for Unigene cluster: Hs.370854

    Expression variation in blood from EXPOLDB for TSC1

    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

    Primers: OriGene genome-wide validated SYBR primer pairs: TSC1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for TSC1: PPH00244A
        SABiosciences Expression via Pathway-Focused PCR Arrays including TSC1 (see all 4): PAHS-027A PAHS-058A  


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for TSC1 gene from 5/10 species (see all 10)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    TSC11   -- tuberous sclerosis 1 88.23(n)
    89.69(a)
    480688  XM_537808.2  XP_537808.2 
    chimpanzee
    (Pan troglodytes)
    TSC11   -- tuberous sclerosis 1 99.68(n)
    99.66(a)
    464818  XM_001168992.1  XP_001168992.1 
    cow
    (Bos taurus)
    TSC11   -- tuberous sclerosis 1 88.24(n)
    91.18(a)
    533440  NM_001075992.1  NP_001069460.1 
    rat
    (Rattus norvegicus)
    Tsc11   -- tuberous sclerosis 1 85.44(n)
    86.65(a)
    60445  NM_021854.1  NP_068626.1 
    mouse
    (Mus musculus)
    Tsc11 , 5 2 (19.38 cM)5
    tuberous sclerosis 11, 5 85.97(n)1
    87.73(a)1
    649301  NM_022887.31  NP_075025.21 
     AB0475615  AI8373195  (see all 15)
    About this table        Species with no ortholog for TSC1

    ENSEMBL Gene Tree for TSC1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/864 NCBI SNPs in TSC1 are shown (see all 864)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs7394411,2
    C,F,O,A,H,135770115(-) GCAGAA/GAGAAT 4 -- ut31 ese318Minor allele frequency- G:0.22MN NS EA NA WA 1038
    rs7394421,2
    C,F,A,135770134(-) GTGCCC/TACGGA 4 -- ut31 ese323Minor allele frequency- N:0.00EA NA NS 2842
    rs7567691,2
    C,F,A,H,135774059(+) AATCAC/TGCAAA 3 -- int115Minor allele frequency- T:0.44NA PA EA NS 2216
    rs8838381,2
    C,F,O,A,135815474(-) TTAGCA/CCCTGG 3 -- int114Minor allele frequency- N:0.00EA NA NS WA 848
    rs9996861,2
    H135787011(-) ttttAA/CCCAGA 3 -- int12Minor allele frequency- C:0.00NS 224
    rs10507001,2
    C,F,A,135767943(-) GATGGA/GGTGCC 4 -- ut3120Minor allele frequency- G:0.24MN NA NS EA WA 1296
    rs10731231,2
    C,F,O,H,135786904(+) CTGGCA/C/G/
            
    TATTT
    8 T M mis1 ref1 ese3112NS MN EA PA EU CA WA NA 7588
    rs10761601,2
    C,F,H,135776034(-) CTCCCG/ACATGG 3 -- int129Minor allele frequency- A:0.42EA NA NS 1946
    rs18019871,2
    --135769852(-) TTCAGA/CTTTGT 4 -- ut310--------
    rs21063451,2
    C,F,135768750(+) GACCAC/TGTGTT 4 -- ut31 ese34Minor allele frequency- T:0.01NS EA 420
    About this table

    HapMap Linkage Disequilibrium images for TSC1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for TSC1
         2 CNVs: 36923 36922

    QIAGEN SeqTarget long-range PCR primers for resequencing TSC1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TSC1 for disorders           About GeneDecksing

    OMIM: 605284   disorders: 191100  606690  607341  

    UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574

  • Defects in TSC1 are the cause of tuberous sclerosis type 1 (TSC1) [MIM:191100]. It is an autosomal dominant
  • multi-system disorder that affects especially the brain, kidneys, heart, and skin. TS1C 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 symptoms can range from benign hypopigmented macules of
    the skin to profound mental retardation with intractable seizures to premature death from a variety of
    disease-associated causes
  • Defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341].
  • FCDBC is a subtype of cortical displasias 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

    10/84 Novoseek disease relationships for TSC1 gene (see all 84)

    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)
    About this table

    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
    Tuberous Sclerosis Complex

    Locus Specific Mutation Databases (LSDB): TSC1
    Human Gene Mutation Database (HGMD): TSC1
    Genetic Association Database (GAD): TSC1
    Human Genome Epidemiology (HuGE) Navigator: TSC1 (15 documents)

    Export disorders and mutations for TSC1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/535 PubMed articles for TSC1 gene, integrated from 7 sources (see all 535):
    (articles sorted by number of sources associating them with TSC1)
    1. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. (PubMed id 9242607)1, 2, 3, 7 van Slegtenhorst M.A....Kwiatkowski D.J. (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. (1998)
    3. The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. (PubMed id 10806479)1, 3, 7 Lamb R.F....Hall A. (2000)
    4. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. (PubMed id 10533067)1, 2, 7 Niida Y.... Ozelius L. (1999)
    5. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. (PubMed id 9328481)1, 2, 7 Jones A.C.... Cheadle J.P. (1997)
    6. 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, 7 Sancak O....van den Ouweland A. (2005)
    7. [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism] (PubMed id 14756965)1, 4, 7 Feng J.H....Yang C.W. (2003)
    8. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. (PubMed id 9580671)1, 2, 7 van Slegtenhorst M.A.... van der Sluijs P. (1998)
    9. Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. (PubMed id 15963462)1, 2, 7 Nellist M....Luider T.M. (2005)
    10. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. (PubMed id 12271141)1, 2, 7 Tee A.R....Blenis J. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 7248 HGNC: 12362 AceView: TSC1 Ensembl:ENSG00000165699 euGenes: HUgn7248
    ECgene: TSC1 Kegg: 7248 H-InvDB: TSC1

    (According to HUGE)
    About This Section
    HUGE: KIAA0243

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for TSC1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TSC1

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

    GeneCards and IP:
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