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    Tsc1 tuberous sclerosis 1 [ Mus musculus (house mouse) ]

    Gene ID: 64930, updated on 17-Sep-2016
    Official Symbol
    Tsc1provided by MGI
    Official Full Name
    tuberous sclerosis 1provided by MGI
    Primary source
    MGI:MGI:1929183
    See related
    Ensembl:ENSMUSG00000026812 Vega:OTTMUSG00000011747
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Orthologs
    Location:
    2; 2 B-C1.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (28641189..28691172)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (28496763..28546687)

    Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene general transcription factor IIIC, polypeptide 5 Neighboring gene growth factor independent 1B Neighboring gene sperm acrosome associated 9 Neighboring gene adenylate kinase 8 Neighboring gene microRNA 3088

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0243

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    GTPase activating protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    GTPase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GTPase regulator activity ISO
    Inferred from Sequence Orthology
    more info
     
    chaperone binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein N-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    adaptive immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adult locomotory behavior ISO
    Inferred from Sequence Orthology
    more info
     
    cardiac muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell projection organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to oxygen-glucose deprivation ISO
    Inferred from Sequence Orthology
    more info
     
    cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryo development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hippocampus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    memory T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of TOR signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of TOR signaling ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of cell size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of insulin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of macroautophagy ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of translation ISO
    Inferred from Sequence Orthology
    more info
     
    nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of focal adhesion assembly ISO
    Inferred from Sequence Orthology
    more info
     
    potassium ion transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    potassium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein heterooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    protein stabilization ISO
    Inferred from Sequence Orthology
    more info
     
    rRNA export from nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of focal adhesion assembly ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of neuron death ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of phosphoprotein phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of protein kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of stress fiber assembly ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of translation ISO
    Inferred from Sequence Orthology
    more info
     
    response to insulin ISO
    Inferred from Sequence Orthology
    more info
     
    synapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    TSC1-TSC2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    TSC1-TSC2 complex ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with actin filament ISO
    Inferred from Sequence Orthology
    more info
     
    cell cortex ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    lamellipodium ISO
    Inferred from Sequence Orthology
    more info
     
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    hamartin
    Names
    tuberous sclerosis 1 protein homolog

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001289575.1NP_001276504.1  hamartin isoform 1

      See identical proteins and their annotated locations for NP_001276504.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI837319, AJ271912, AK147428, BY275738
      Consensus CDS
      CCDS79762.1
      UniProtKB/Swiss-Prot
      Q9EP53
      Related
      ENSMUSP00000109500, OTTMUSP00000012518, ENSMUST00000113869, OTTMUST00000027552
      Conserved Domains (4) summary
      pfam04388
      Location:7716
      Hamartin; Hamartin protein
      pfam11180
      Location:701780
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:763929
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:776878
      Snf7; Snf7
    2. NM_001289576.1NP_001276505.1  hamartin isoform 3

      See identical proteins and their annotated locations for NP_001276505.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate in-frame splice sites, one each in the 5' and 3' coding regions, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AI837319, AK147428, BY275738
      Consensus CDS
      CCDS71013.1
      UniProtKB/Swiss-Prot
      Q9EP53
      Related
      ENSMUSP00000109498, OTTMUSP00000012523, ENSMUST00000113867, OTTMUST00000027558
      Conserved Domains (4) summary
      pfam04388
      Location:7710
      Hamartin; Hamartin protein
      pfam11180
      Location:695774
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:757923
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:770872
      Snf7; Snf7
    3. NM_022887.4NP_075025.2  hamartin isoform 2

      See identical proteins and their annotated locations for NP_075025.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter that isoform 1.
      Source sequence(s)
      AI837319, AJ271912, AK030318, AK147428, BY275738
      Consensus CDS
      CCDS15844.1
      UniProtKB/Swiss-Prot
      Q9EP53
      Related
      ENSMUSP00000028155, OTTMUSP00000012519, ENSMUST00000028155, OTTMUST00000027553
      Conserved Domains (4) summary
      pfam04388
      Location:7715
      Hamartin; Hamartin protein
      pfam11180
      Location:700779
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:762928
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:775877
      Snf7; Snf7

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      28641189..28691172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498221.3XP_006498284.1  

      See identical proteins and their annotated locations for XP_006498284.1

      Conserved Domains (4) summary
      pfam04388
      Location:7729
      Hamartin; Hamartin protein
      pfam11180
      Location:714793
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:776942
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:789891
      Snf7; Snf7
    2. XM_006498220.2XP_006498283.1  

      See identical proteins and their annotated locations for XP_006498283.1

      Conserved Domains (4) summary
      pfam04388
      Location:7729
      Hamartin; Hamartin protein
      pfam11180
      Location:714793
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:776942
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:789891
      Snf7; Snf7
    3. XM_011239144.1XP_011237446.1  

      See identical proteins and their annotated locations for XP_011237446.1

      UniProtKB/Swiss-Prot
      Q9EP53
      Conserved Domains (4) summary
      pfam04388
      Location:7715
      Hamartin; Hamartin protein
      pfam11180
      Location:700779
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:762928
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:775877
      Snf7; Snf7
    4. XM_006498223.3XP_006498286.1  

      Conserved Domains (4) summary
      pfam04388
      Location:7724
      Hamartin; Hamartin protein
      pfam11180
      Location:709788
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:771937
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:784886
      Snf7; Snf7
    5. XM_011239143.2XP_011237445.1  

      See identical proteins and their annotated locations for XP_011237445.1

      Conserved Domains (4) summary
      pfam04388
      Location:7729
      Hamartin; Hamartin protein
      pfam11180
      Location:714793
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:776942
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:789891
      Snf7; Snf7
    6. XM_011239142.2XP_011237444.1  

      See identical proteins and their annotated locations for XP_011237444.1

      Conserved Domains (4) summary
      pfam04388
      Location:7729
      Hamartin; Hamartin protein
      pfam11180
      Location:714793
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:776942
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:789891
      Snf7; Snf7
    7. XM_006498222.3XP_006498285.1  

      See identical proteins and their annotated locations for XP_006498285.1

      Conserved Domains (4) summary
      pfam04388
      Location:7729
      Hamartin; Hamartin protein
      pfam11180
      Location:714793
      DUF2968; Protein of unknown function (DUF2968)
      pfam14988
      Location:776942
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:789891
      Snf7; Snf7
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