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Tsc1
Gene Detail
 Symbol
Name
ID
Tsc1
tuberous sclerosis 1
MGI:1929183
Synonyms hamartin
Feature Type protein coding gene
Genetic Map
Chromosome 2
19.38 cM, cytoband B-C1.1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:28641228-28691167 bp, + strand
From VEGA annotation of GRCm38

  49940 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:314  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Tsc1

Human
homologs
Human Homolog TSC1, tuberous sclerosis 1
NCBI Gene ID 7248
neXtProt AC  NX_Q92574
Human Synonyms  LAM, TSC
Human Chr (Location)  9q34; chr9:132891348-132944707 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human TSC1
Mutations,
alleles, and
phenotypes
All mutations/alleles(38) : Gene trapped(31) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Tsc1 (2)    Alleles Annotated to Human Diseases(4)    Phenotype Images(3)
Interactions
Tsc1 interacts with 376 markers (Mir1b, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (65 annotations)
Process activation of Rho GTPase activity, cardiac muscle cell differentiation, ...
Component actin filament, cell cortex, ...
Function chaperone binding, GTPase activating protein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (13 records)
Data Summary: Results (43)    Tissues (34)    Images (14)
Theiler Stages: 19, 20, 23, 27, 28
Assay TypeResults
RNA in situ 37
Western blot 6
cDNA source data(60)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(63) cDNA(63)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000011747 (Evidence)
Ensembl Gene ModelENSMUSG00000026812 (Evidence)
Entrez Gene64930 (Evidence)
UniGene224354
DFCITC1582512, TC1588830, TC1614588, TC1717809
DoTSDT.101267164, DT.101405085, DT.101736262, DT.528178, DT.55210425
NIA Mouse Gene IndexU001550
Consensus CDS ProjectCCDS15844.1, CCDS71013.1
International Mouse Knockout Project StatusTsc1
Sequences
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 sequences
All sequences(76) RefSeq(14) UniProt(4)
Polymorphisms SNPs within 2kb(213 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016024 Armadillo-type fold
InterPro IPR007483 Hamartin
Protein Ontology PR:000016708 hamartin
References (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:211864 Herrema H, et al., IRS1Ser(3)(0)(7) phosphorylation does not mediate mTORC1-induced insulin resistance. Biochem Biophys Res Commun. 2014 Jan 10;443(2):689-93
All references(161)
Disease annotation references (11)

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
08/26/2014
MGI 5.19
The Jackson Laboratory