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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
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
Homology
more
  • Human Ortholog
    TSC1, tuberous sclerosis 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TSC1, tuberous sclerosis 1
    Orthology source: HomoloGene
  • Synonyms
    LAM, TSC
  • Links
    NCBI Gene ID: 7248
    neXtProt AC: NX_Q92574

  • Chr Location
    9q34; chr9:132891348-132945370 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Tuberous Sclerosis 1; TSC1   OMIM: 191100 View 10 models
       Autism   OMIM: 209850 View 2 models
Polycystic Kidney Disease, Autosomal Recessive; ARPKD   OMIM: 263200 View 1 model
       Focal Cortical Dysplasia of Taylor; FCDT   OMIM: 607341
Lymphangioleiomyomatosis; LAM   OMIM: 606690
Click on a disease name to see all genes associated with that disease.

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

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    213 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
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  • All nucleic 63
    cDNA 63

    Microarray probesets 5
References
more
  • Summaries
    All 188
    Developmental Gene Expression 16
    Diseases 17
    Gene Ontology 15
    Phenotypes 133
  • Earliest
    J:66161 Dron M, et al., Mouse scrapie responsive gene 1 (Scrg1): genomic organization, physical linkage to sap30, genetic mapping on chromosome 8, and expression in neuronal primary cell cultures. Genomics. 2000 Nov 15;70(1):140-9
  • Latest
    J:227440 Prabhakar S, et al., Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model. Neurobiol Dis. 2015 Oct;82:22-31

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
02/02/2016
MGI 6.02
The Jackson Laboratory