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    TSC1 tuberous sclerosis 1 [ Homo sapiens (human) ]

    Gene ID: 7248, updated on 22-Sep-2016
    Official Symbol
    TSC1provided by HGNC
    Official Full Name
    tuberous sclerosis 1provided by HGNC
    Primary source
    HGNC:HGNC:12362
    See related
    Ensembl:ENSG00000165699 HPRD:05594; MIM:605284; Vega:OTTHUMG00000020844
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LAM; TSC
    Summary
    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]
    Orthologs
    Location:
    9q34
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (132891348..132945269, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135766735..135820094, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene DEAD-box helicase 31 Neighboring gene general transcription factor IIIC subunit 4 Neighboring gene adenylate kinase 8 Neighboring gene sperm acrosome associated 9 Neighboring gene microRNA 548aw Neighboring gene growth factor independent 1B transcriptional repressor Neighboring gene ribosomal protein L39 pseudogene 24

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TSC1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Focal cortical dysplasia of Taylor
    MedGen: C1846385 OMIM: 607341 GeneReviews: Not available
    Compare labs
    Lymphangiomyomatosis
    MedGen: C0751674 OMIM: 606690 GeneReviews: Not available
    Compare labs
    Tuberous sclerosis 1
    MedGen: C1854465 OMIM: 191100 GeneReviews: Tuberous Sclerosis Complex
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-19)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-19)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    NHGRI GWA Catalog
    Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
    NHGRI GWA Catalog
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      Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Insulin signaling pathway, conserved biosystem (from KEGG)
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      PI3K Cascade, organism-specific biosystem
      PI3K Cascade
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
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    • Phospholipase D signaling pathway, organism-specific biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0243, MGC86987

    Gene Ontology Provided by GOA

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

    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.

    Genomic

    1. NG_012386.1 RefSeqGene

      Range
      5001..58286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_486

    mRNA and Protein(s)

    1. NM_000368.4NP_000359.1  hamartin isoform 1

      See identical proteins and their annotated locations for NP_000359.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF013168, BC070032, D87683, N63914
      Consensus CDS
      CCDS6956.1
      UniProtKB/Swiss-Prot
      Q92574
      UniProtKB/TrEMBL
      Q86WV8, X5D9D2
      Related
      ENSP00000298552, OTTHUMP00000022439, ENST00000298552, OTTHUMT00000054799
      Conserved Domains (4) summary
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
      pfam05837
      Location:863957
      CENP-H; Centromere protein H (CENP-H)
      pfam14988
      Location:766932
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:779881
      Snf7; Snf7
    2. NM_001162426.1NP_001155898.1  hamartin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AF013168, BC108668, D87683, DA726552, N63914
      UniProtKB/Swiss-Prot
      Q92574
      UniProtKB/TrEMBL
      Q32NF0
      Conserved Domains (4) summary
      pfam04388
      Location:7718
      Hamartin; Hamartin protein
      pfam05837
      Location:862956
      CENP-H; Centromere protein H (CENP-H)
      pfam14988
      Location:765931
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:778880
      Snf7; Snf7
    3. NM_001162427.1NP_001155899.1  hamartin isoform 4

      See identical proteins and their annotated locations for NP_001155899.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AF013168, AK303030, BI463204, D87683, N63914
      Consensus CDS
      CCDS55350.1
      UniProtKB/Swiss-Prot
      Q92574
      Related
      ENSP00000444017, ENST00000545250
      Conserved Domains (4) summary
      pfam04388
      Location:7668
      Hamartin; Hamartin protein
      pfam05837
      Location:812906
      CENP-H; Centromere protein H (CENP-H)
      pfam14988
      Location:715881
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:728830
      Snf7; Snf7

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      132891348..132945269 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518979.2XP_011517281.1  

      See identical proteins and their annotated locations for XP_011517281.1

      UniProtKB/Swiss-Prot
      Q92574
      UniProtKB/TrEMBL
      X5D9D2
      Conserved Domains (4) summary
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
      pfam05837
      Location:863957
      CENP-H; Centromere protein H (CENP-H)
      pfam14988
      Location:766932
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:779881
      Snf7; Snf7
    2. XM_017015101.1XP_016870590.1  

    3. XM_017015100.1XP_016870589.1  

    4. XM_017015099.1XP_016870588.1  

    5. XM_017015097.1XP_016870586.1  

      Conserved Domains (4) summary
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
      pfam05837
      Location:863957
      CENP-H; Centromere protein H (CENP-H)
      pfam14988
      Location:766932
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:779881
      Snf7; Snf7
    6. XM_017015096.1XP_016870585.1  

      Conserved Domains (4) summary
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
      pfam05837
      Location:863957
      CENP-H; Centromere protein H (CENP-H)
      pfam14988
      Location:766932
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:779881
      Snf7; Snf7
    7. XM_017015098.1XP_016870587.1  

      Conserved Domains (4) summary
      pfam04388
      Location:7718
      Hamartin; Hamartin protein
      pfam05837
      Location:862956
      CENP-H; Centromere protein H (CENP-H)
      pfam14988
      Location:765931
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:778880
      Snf7; Snf7
    8. XM_005272211.1XP_005272268.1  

      See identical proteins and their annotated locations for XP_005272268.1

      UniProtKB/Swiss-Prot
      Q92574
      UniProtKB/TrEMBL
      X5D9D2
      Conserved Domains (4) summary
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
      pfam05837
      Location:863957
      CENP-H; Centromere protein H (CENP-H)
      pfam14988
      Location:766932
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:779881
      Snf7; Snf7
    9. XM_006717271.1XP_006717334.1  

      See identical proteins and their annotated locations for XP_006717334.1

      UniProtKB/Swiss-Prot
      Q92574
      UniProtKB/TrEMBL
      X5D9D2
      Related
      ENSP00000394524, ENST00000440111
      Conserved Domains (4) summary
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
      pfam05837
      Location:863957
      CENP-H; Centromere protein H (CENP-H)
      pfam14988
      Location:766932
      DUF4515; Domain of unknown function (DUF4515)
      cl21588
      Location:779881
      Snf7; Snf7

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      135917213..135970447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008567.1: Suppressed sequence

      Description
      NM_001008567.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Support Center