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    Tsc1 TSC complex subunit 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 60445, updated on 9-Dec-2024

    Summary

    Official Symbol
    Tsc1provided by RGD
    Official Full Name
    TSC complex subunit 1provided by RGD
    Primary source
    RGD:620124
    See related
    EnsemblRapid:ENSRNOG00000011470 AllianceGenome:RGD:620124
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable ATPase inhibitor activity; heat shock protein binding activity; and protein folding chaperone. Involved in several processes, including negative regulation of GTPase activity; positive regulation of stress fiber assembly; and regulation of macroautophagy. Located in growth cone; nucleus; and perinuclear region of cytoplasm. Used to study obesity. Human ortholog(s) of this gene implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Orthologous to human TSC1 (TSC complex subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 55.2), Muscle (RPKM 46.2) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Tsc1 in Genome Data Viewer
    Location:
    3p12
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (32367434..32416565)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (11969547..12018591)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (7219955..7269063)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 592 Neighboring gene growth factor independent 1B transcriptional repressor Neighboring gene sperm acrosome associated 9 Neighboring gene adenylate kinase 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATPase inhibitor activity  
    enables ATPase inhibitor activity  
    enables Hsp70 protein binding  
    enables Hsp70 protein binding  
    enables Hsp90 protein binding  
    enables Hsp90 protein binding  
    enables protein binding PubMed 
    enables protein folding chaperone  
    enables protein folding chaperone  
    enables protein-folding chaperone binding  
    Items 1 - 25 of 72
    Process Evidence Code Pubs
    involved_in D-glucose import  
    acts_upstream_of_or_within D-glucose import  
    involved_in activation of GTPase activity  
    involved_in adaptive immune response  
    acts_upstream_of_or_within adaptive immune response  
    involved_in adult locomotory behavior PubMed 
    involved_in associative learning  
    involved_in associative learning  
    involved_in cardiac muscle cell differentiation  
    acts_upstream_of_or_within cardiac muscle cell differentiation  
    involved_in cell population proliferation  
    acts_upstream_of cell population proliferation  
    involved_in cell projection organization  
    acts_upstream_of_or_within cell projection organization  
    involved_in cell-matrix adhesion  
    involved_in cell-matrix adhesion  
    involved_in cellular response to decreased oxygen levels PubMed 
    involved_in cellular response to starvation  
    involved_in cellular response to starvation  
    involved_in cellular response to starvation  
    involved_in cerebral cortex development  
    acts_upstream_of_or_within cerebral cortex development  
    involved_in hippocampus development  
    acts_upstream_of_or_within hippocampus development  
    involved_in kidney development  
    acts_upstream_of_or_within kidney development  
    involved_in memory T cell differentiation  
    acts_upstream_of_or_within memory T cell differentiation  
    involved_in myelination  
    acts_upstream_of_or_within myelination  
    involved_in negative regulation of ATP-dependent activity  
    involved_in negative regulation of GTPase activity PubMed 
    involved_in negative regulation of TOR signaling  
    involved_in negative regulation of TOR signaling PubMed 
    involved_in negative regulation of TOR signaling  
    involved_in negative regulation of TORC1 signaling  
    involved_in negative regulation of TORC1 signaling  
    involved_in negative regulation of TORC1 signaling  
    involved_in negative regulation of cell population proliferation  
    involved_in negative regulation of cell population proliferation  
    involved_in negative regulation of cell population proliferation PubMed 
    acts_upstream_of_or_within negative regulation of cell population proliferation  
    involved_in negative regulation of cell population proliferation  
    involved_in negative regulation of cell size  
    acts_upstream_of_or_within negative regulation of cell size  
    involved_in negative regulation of cellular response to oxidative stress PubMed 
    involved_in negative regulation of macroautophagy PubMed 
    involved_in negative regulation of neuron projection development PubMed 
    acts_upstream_of_or_within nervous system development  
    involved_in neural tube closure  
    acts_upstream_of_or_within neural tube closure  
    involved_in positive regulation of focal adhesion assembly  
    involved_in positive regulation of focal adhesion assembly  
    involved_in positive regulation of macroautophagy PubMed 
    involved_in positive regulation of stress fiber assembly PubMed 
    involved_in potassium ion transport  
    acts_upstream_of_or_within potassium ion transport  
    involved_in protein folding  
    involved_in protein stabilization  
    involved_in protein stabilization  
    involved_in regulation of cell cycle  
    involved_in regulation of cell-matrix adhesion  
    involved_in regulation of focal adhesion assembly PubMed 
    acts_upstream_of_or_within regulation of protein kinase activity  
    involved_in regulation of stress fiber assembly  
    involved_in regulation of stress fiber assembly  
    involved_in response to insulin  
    involved_in response to insulin  
    involved_in response to nutrient levels PubMed 
    involved_in response to peptide PubMed 
    involved_in synapse organization  
    acts_upstream_of_or_within synapse organization  
    Items 1 - 25 of 72
    Items 1 - 20 of 28
    Component Evidence Code Pubs
    part_of TSC1-TSC2 complex  
    part_of TSC1-TSC2 complex  
    part_of TSC1-TSC2 complex  
    part_of TSC1-TSC2 complex  
    located_in actin filament  
    located_in actin filament  
    located_in cell cortex  
    located_in cell cortex  
    located_in cell projection PubMed 
    located_in cytoplasm  
    located_in cytosol  
    located_in cytosol  
    located_in growth cone PubMed 
    located_in lamellipodium  
    located_in lamellipodium  
    located_in lipid droplet  
    located_in lipid droplet  
    located_in lysosomal membrane  
    is_active_in lysosomal membrane  
    is_active_in lysosomal membrane  
    located_in membrane  
    located_in nucleus PubMed 
    located_in perinuclear region of cytoplasm PubMed 
    located_in postsynaptic density  
    is_active_in postsynaptic density  
    part_of protein folding chaperone complex  
    part_of protein folding chaperone complex  
    part_of protein-containing complex  
    Items 1 - 20 of 28

    General protein information

    Preferred Names
    hamartin
    Names
    tuberous sclerosis 1 protein homolog

    NCBI Reference Sequences (RefSeq)

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    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_021854.3NP_068626.1  hamartin

      See identical proteins and their annotated locations for NP_068626.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/Swiss-Prot
      Q9Z136
      UniProtKB/TrEMBL
      A0A8L2Q989, A6JTP4
      Related
      ENSRNOP00000016904.2, ENSRNOT00000016904.5
      Conserved Domains (2) summary
      COG1196
      Location:705971
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam04388
      Location:7719
      Hamartin; Hamartin protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      32367434..32416565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006233844.4XP_006233906.1  hamartin isoform X3

      See identical proteins and their annotated locations for XP_006233906.1

      UniProtKB/Swiss-Prot
      Q9Z136
      UniProtKB/TrEMBL
      A0A8L2Q989, A6JTP4
      Conserved Domains (2) summary
      COG1196
      Location:705971
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
    2. XM_063284474.1XP_063140544.1  hamartin isoform X2

      UniProtKB/TrEMBL
      A0A8L2Q989
    3. XM_063284467.1XP_063140537.1  hamartin isoform X1

      UniProtKB/TrEMBL
      A0A8L2Q989
    4. XM_063284468.1XP_063140538.1  hamartin isoform X1

      UniProtKB/TrEMBL
      A0A8L2Q989
    5. XM_006233849.4XP_006233911.1  hamartin isoform X4

      UniProtKB/TrEMBL
      A0A8L2Q989
      Conserved Domains (2) summary
      pfam04388
      Location:7714
      Hamartin; Hamartin protein
      pfam15905
      Location:700972
      HMMR_N; Hyaluronan mediated motility receptor N-terminal
    6. XM_063284476.1XP_063140546.1  hamartin isoform X4

      UniProtKB/TrEMBL
      A0A8L2Q989
    7. XM_006233845.4XP_006233907.1  hamartin isoform X3

      See identical proteins and their annotated locations for XP_006233907.1

      UniProtKB/Swiss-Prot
      Q9Z136
      UniProtKB/TrEMBL
      A0A8L2Q989, A6JTP4
      Conserved Domains (2) summary
      COG1196
      Location:705971
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
    8. XM_063284475.1XP_063140545.1  hamartin isoform X3

      UniProtKB/Swiss-Prot
      Q9Z136
      UniProtKB/TrEMBL
      A0A8L2Q989, A6JTP4
    9. XM_063284472.1XP_063140542.1  hamartin isoform X1

      UniProtKB/TrEMBL
      A0A8L2Q989
    10. XM_063284470.1XP_063140540.1  hamartin isoform X1

      UniProtKB/TrEMBL
      A0A8L2Q989
    11. XM_063284469.1XP_063140539.1  hamartin isoform X1

      UniProtKB/TrEMBL
      A0A8L2Q989
    12. XM_006233847.5XP_006233909.1  hamartin isoform X3

      See identical proteins and their annotated locations for XP_006233909.1

      UniProtKB/Swiss-Prot
      Q9Z136
      UniProtKB/TrEMBL
      A0A8L2Q989, A6JTP4
      Conserved Domains (2) summary
      COG1196
      Location:705971
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
    13. XM_039105772.2XP_038961700.1  hamartin isoform X3

      UniProtKB/Swiss-Prot
      Q9Z136
      UniProtKB/TrEMBL
      A0A8L2Q989, A6JTP4
      Conserved Domains (2) summary
      COG1196
      Location:705971
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
    14. XM_063284471.1XP_063140541.1  hamartin isoform X1

      UniProtKB/TrEMBL
      A0A8L2Q989
    15. XM_006233846.4XP_006233908.1  hamartin isoform X3

      See identical proteins and their annotated locations for XP_006233908.1

      UniProtKB/Swiss-Prot
      Q9Z136
      UniProtKB/TrEMBL
      A0A8L2Q989, A6JTP4
      Conserved Domains (2) summary
      COG1196
      Location:705971
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam04388
      Location:7719
      Hamartin; Hamartin protein
    16. XM_063284477.1XP_063140547.1  hamartin isoform X5

      UniProtKB/TrEMBL
      A0A8L2Q989
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