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 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; chr9:135766735-135820020 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human TSC1

Alleles and phenotypes

All alleles(38) : Targeted(7) Gene trapped(31)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (57 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: (11 records)
Data Summary: Results (43)    Tissues (33)    Images (14)
Theiler Stages: 19, 20, 23, 28

Assay Type	Results
RNA in situ	37
Western blot	6

cDNA source data(60)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1582512, TC1588830, TC1614588, TC1717809
DoTS	DT.101267164, DT.101405085, DT.101736262, DT.528178, DT.55210425
NIA Mouse Gene Index	U001550
Consensus CDS Project	CCDS15844.1
International Mouse Knockout Project Status	Tsc1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000011747	VEGA Gene Model | MGI Sequence Detail	49940	C57BL/6J
transcript	OTTMUST00000027552	VEGA | MGI Sequence Detail	7702	Not Applicable
polypeptide	OTTMUSP00000012518	VEGA | MGI Sequence Detail	1161	Not Applicable

All sequences(63) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(201 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193238 Katholnig K, et al., p38alpha Senses Environmental Stress To Control Innate Immune Responses via Mechanistic Target of Rapamycin. J Immunol. 2013 Feb 15;190(4):1519-27
All references(132)