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Tsc1 Gene Detail
Summary
  • Symbol
    Tsc1
  • Name
    tuberous sclerosis 1
  • Synonyms
    hamartin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1929183
    NCBI Gene: 64930
  • Gene Overview
    MyGene.info: TSC1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:28641228-28691167 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      49940 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 19.38 cM, cytoband B-C1.1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TSC1, TSC complex subunit 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TSC1, TSC complex subunit 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LAM, TSC
  • Links
    NCBI Gene ID: 7248
    neXtProt AC: NX_Q92574
    UniProt: Q92574

  • Chr Location
    9q34.13; chr9:132891348-132945269 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 314
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: TSC1
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Tsc1 mouse models; 2 with human TSC1 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
IDs
View 10 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    125 phenotypes from 4 alleles in 15 genetic backgrounds
    21 phenotypes from multigenic genotypes
    8 images
    203 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mutants show liver hypoplasia, open neural tube and die by embryonic day 10.5-11.5. Heterozygotes develop kidney cystadenomas and liver hemangiomas. Conditional astrocyte-specific nulls show increased astrocyte numbers and seizures.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000011747 VEGA Gene Model | MGI Sequence Detail 49940 C57BL/6J ±  kb
    transcript OTTMUST00000027552 VEGA | MGI Sequence Detail 7702 Not Applicable  
    polypeptide OTTMUSP00000012518 VEGA | MGI Sequence Detail 1161 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      213 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      Genomic 1
      cDNA 65
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 273
      Developmental Gene Expression 19
      Diseases 12
      Gene Ontology 19
      Phenotypes 203
    • Earliest
      J:66069 Cheadle JP, et al., Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mamm Genome. 2000 Dec;11(12):1135-8
    • Latest
      J:264868 Zhao X, et al., Noninflammatory Changes of Microglia Are Sufficient to Cause Epilepsy. Cell Rep. 2018 Feb 20;22(8):2080-2093

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory