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Tsc1 TSC complex subunit 1 [ Mus musculus (house mouse) ]

Gene ID: 64930, updated on 26-Jun-2024

Summary

Official Symbol
Tsc1provided by MGI
Official Full Name
TSC complex subunit 1provided by MGI
Primary source
MGI:MGI:1929183
See related
Ensembl:ENSMUSG00000026812 AllianceGenome:MGI:1929183
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables ATPase inhibitor activity and protein N-terminus binding activity. Involved in associative learning; negative regulation of ATPase activity; and protein stabilization. Acts upstream of or within several processes, including animal organ development; negative regulation of cell size; and nervous system development. Located in cytoplasm. Is active in postsynaptic density. Is expressed in several structures, including central nervous system; genitourinary system; hepatic primordium; liver; and retina. Used to study anterior segment dysgenesis; autism spectrum disorder; autosomal recessive polycystic kidney disease; and tuberous sclerosis. 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, Apr 2022]
Expression
Ubiquitous expression in CNS E18 (RPKM 10.9), whole brain E14.5 (RPKM 9.8) and 28 other tissues See more
Orthologs
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Genomic context

See Tsc1 in Genome Data Viewer
Location:
2 A3; 2 19.38 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (28531005..28581183)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (28640993..28691172)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_04029 Neighboring gene predicted gene, 22675 Neighboring gene STARR-positive B cell enhancer ABC_E2606 Neighboring gene STARR-positive B cell enhancer ABC_E3365 Neighboring gene STARR-positive B cell enhancer ABC_E2033 Neighboring gene growth factor independent 1B Neighboring gene predicted gene, 52548 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:28496521-28496713 Neighboring gene sperm acrosome associated 9 Neighboring gene adenylate kinase 8 Neighboring gene microRNA 3088

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 
  • Targeted (5)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0243

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ATPase inhibitor activity ISO
Inferred from Sequence Orthology
more info
 
enables Hsp70 protein binding ISO
Inferred from Sequence Orthology
more info
 
enables Hsp90 protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-folding chaperone binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in activation of GTPase activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within adaptive immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in adult locomotory behavior ISO
Inferred from Sequence Orthology
more info
 
involved_in associative learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cardiac muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell projection organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell-matrix adhesion ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to decreased oxygen levels ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to starvation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryo development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glucose import IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within hippocampus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within memory T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of ATP-dependent activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of ATP-dependent activity ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of TOR signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of TORC1 signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of cell size IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within negative regulation of cell size IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cellular response to oxidative stress ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of macroautophagy ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of neuron projection development ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of translation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neural tube closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of focal adhesion assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of macroautophagy ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of stress fiber assembly ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within potassium ion transport IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within potassium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein stabilization ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of cell-matrix adhesion ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of focal adhesion assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of phosphoprotein phosphatase activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of protein kinase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of stress fiber assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of translation ISO
Inferred from Sequence Orthology
more info
 
involved_in response to insulin ISO
Inferred from Sequence Orthology
more info
 
involved_in ribosomal subunit export from nucleus ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within synapse organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of TSC1-TSC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of TSC1-TSC2 complex ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with actin filament ISO
Inferred from Sequence Orthology
more info
 
located_in cell cortex ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in growth cone ISO
Inferred from Sequence Orthology
more info
 
located_in lamellipodium ISO
Inferred from Sequence Orthology
more info
 
located_in lipid droplet ISO
Inferred from Sequence Orthology
more info
 
is_active_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in postsynaptic density EXP
Inferred from Experiment
more info
PubMed 
is_active_in postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein folding chaperone complex ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
hamartin
Names
tuberous sclerosis 1 protein homolog

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001289575.2NP_001276504.1  hamartin isoform 1

    See identical proteins and their annotated locations for NP_001276504.1

    Status: VALIDATED

    Source sequence(s)
    AL731851
    Consensus CDS
    CCDS79762.1
    UniProtKB/Swiss-Prot
    A2AHW1, Q3UHF2, Q7TS92, Q80U55, Q924U7, Q9EP53
    Related
    ENSMUSP00000109500.2, ENSMUST00000113869.8
    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_001289576.2NP_001276505.1  hamartin isoform 3

    See identical proteins and their annotated locations for NP_001276505.1

    Status: VALIDATED

    Source sequence(s)
    AL731851
    Consensus CDS
    CCDS71013.1
    UniProtKB/Swiss-Prot
    Q9EP53
    Related
    ENSMUSP00000109498.3, ENSMUST00000113867.9
    Conserved Domains (2) summary
    COG1196
    Location:696962
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7710
    Hamartin; Hamartin protein
  3. NM_001421615.1NP_001408544.1  hamartin isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL731851
  4. NM_001421616.1NP_001408545.1  hamartin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL731851
  5. NM_022887.5NP_075025.2  hamartin isoform 2

    See identical proteins and their annotated locations for NP_075025.2

    Status: VALIDATED

    Source sequence(s)
    AL731851
    Consensus CDS
    CCDS15844.1
    UniProtKB/Swiss-Prot
    Q9EP53
    Related
    ENSMUSP00000028155.6, ENSMUST00000028155.12
    Conserved Domains (2) summary
    COG1196
    Location:701967
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7715
    Hamartin; Hamartin protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    28531005..28581183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006498221.4XP_006498284.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_006498284.1

    Conserved Domains (2) summary
    COG1196
    Location:715981
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7729
    Hamartin; Hamartin protein
  2. XM_006498220.2XP_006498283.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_006498283.1

    Conserved Domains (2) summary
    COG1196
    Location:715981
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7729
    Hamartin; Hamartin protein
  3. XM_006498223.3XP_006498286.1  hamartin isoform X2

    Conserved Domains (2) summary
    COG1196
    Location:710976
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7724
    Hamartin; Hamartin protein
  4. XM_011239143.4XP_011237445.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_011237445.1

    Conserved Domains (2) summary
    COG1196
    Location:715981
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7729
    Hamartin; Hamartin protein
  5. XM_006498222.4XP_006498285.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_006498285.1

    Conserved Domains (2) summary
    COG1196
    Location:715981
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7729
    Hamartin; Hamartin protein
  6. XM_030251935.1XP_030107795.1  hamartin isoform X3

    Conserved Domains (2) summary
    COG1196
    Location:701967
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7715
    Hamartin; Hamartin protein
  7. XM_011239142.4XP_011237444.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_011237444.1

    Conserved Domains (2) summary
    COG1196
    Location:715981
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7729
    Hamartin; Hamartin protein
  8. XM_030251936.2XP_030107796.1  hamartin isoform X3

    Conserved Domains (2) summary
    COG1196
    Location:701967
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7715
    Hamartin; Hamartin protein