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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

HCOP human homology predictions: TSC1
Gene Tree: Tsc1

Human
homologs
TSC1, tuberous sclerosis 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 7248
neXtProt AC: NX_Q92574

Human Synonyms: LAM, TSC

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

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 , CvDC )
 
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 in Mice Using Tsc1 (2)    Mutations Annotated to Human Diseases (4)    Phenotype Images(3)
Interactions
Tsc1 interacts with 375 markers (Mir1b, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (69 annotations)
Process activation of GTPase activity, adaptive immune response, ...
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: (15 records)
Data Summary: Results (43)    Tissues (34)    Images (14)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 37
Western blot 6
cDNA source data(60)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN tsc1a    NEW 
Molecular
reagents
All nucleic(63) cDNA(63)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000011747 (Evidence)
Ensembl Gene Model ENSMUSG00000026812 (Evidence)
Entrez Gene 64930 (Evidence)
UniGene 224354
DFCI TC1588830, TC1582512, TC1614588, TC1717809
DoTS DT.55210425, DT.528178, DT.101736262, DT.101405085, DT.101267164
NIA Mouse Gene Index U001550
Consensus CDS Project CCDS15844.1, CCDS71013.1
International Mouse Phenotyping Consortium Status Tsc1
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(84) RefSeq(22) 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: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:219960 Ye P, et al., An mTORC1-Mdm2-Drosha axis for miRNA biogenesis in response to glucose- and amino acid-deprivation. Mol Cell. 2015 Feb 19;57(4):708-20
All references(176)
Disease annotation references (12)

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
06/23/2015
MGI 5.22
The Jackson Laboratory