Aliases & Descriptions for TSC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases & Descriptions |
|---|
| tuberous sclerosis 11 2 | | TSC2 3 | | KIAA02431 2 3 | | OTTHUMP000000224392 | | LAM1 2 5 | | OTTHUMP000001983782 | | hamartin1 2 | | MGC869872 | | Tuberous sclerosis 1 protein2 3 | | tumor suppressor2 |
Export aliases for TSC1 gene to outside databasesPrevious GC identifers: GC09M126791 GC09M127323 GC09M129120 GC09M131042 GC09M132796 GC09M134756 GC09M135766 |
Summaries for TSC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for TSC1: This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in thisgene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants.(provided by RefSeq) UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574Function: In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 andEIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB.Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due tounregulated mTOR signaling Gene Wiki entry for TSC1 |
Genomic Views for TSC1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences) About This Section
| Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TSC1 gene promoter: HNF-4alpha2 C/EBPalpha NF-1 COUP-TF1 MEF-2A YY1 GATA-1 GATA-3 POU2F2 (Oct-2.1) POU2F2C Other transcription factors
Search SABiosciences Chromatin IP Primers for TSC1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for TSC1  |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q34 Ensembl cytogenetic band: 9q34.13 HGNC cytogenetic band: 9q34TSC1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M105260: view genomic region
(about GC identifiers)
Start:
|
105,260,658 bp from pter |
End:
|
105,313,711 bp from pter |
Size:
|
53,054 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr9- 135,766,735-135,820,020 |
RefSeq DNA sequence:- NC_000009.11 NT_035014.4
|
Proteins for TSC1 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
| UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574 (See
protein sequence)Recommended Name: Hamartin Size: 1164 amino acids; 129767 Da
Subunit: Interacts with TSC2, leading to stabilize TSC2. In the absence of TSC2, TSC1 self-aggregates. Interacts withDOCK7
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association withmembranes
Secondary accessions: Q5VVN5Explore the universe of human proteins at neXtProt for TSC1: NX_Q92574 
Post-translational modifications:
Phosphorylation at Ser-505 does not affect interaction with TSC2. Phosphorylated upon DNA damage, probably by ATM orATR1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (3 alternative transcripts):
NP_000359.1 NP_001155898.1 NP_001155899.1
ENSEMBL proteins: ENSP00000393473 ENSP00000298552 ENSP00000386093 ENSP00000394524
Human Recombinant Proteins
5/12 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 12): About this table
TSC1 for ontologies About GeneDecksing
Antibodies for TSC1: Assays for TSC1: |
Protein
Domains/ Families for TSC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TSC1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q92574ProtoNet protein and cluster: Q92574 1 Blocks protein family: IPB007483 Hamartin
UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574Domain: The C-terminal putative coiled-coil domain is necessary for interaction with TSC2 |
Gene Function for TSC1 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
| UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574Function: In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 andEIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB.Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due tounregulated mTOR signaling
Genatlas biochemistry entry for TSC1:hamartin,130kDa,widely expressed,homolog of a yeast protein of unknown function,putative growth suppressorgene,interacting with tuberin (TBR) through its coiled coil domain,localized to cytoplasmic vesicles,expressed inneuroglial cells of TSC tubers5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6): About this table
TSC1 for ontologies About GeneDecksing
Animal Models: 15/17 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Tsc1) (see all 17):
TSC1 for phenotypes About GeneDecksing
|
Pathways & Interactions for TSC1 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
TSC1 for pathways About GeneDecksing
4 Millipore Pathways for TSC1 5/7 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for TSC1 (see all 7)
3
Cell Signaling Technology (CST) Pathways for TSC1 2 Kegg Pathways (Kegg details for TSC1): SABiosciences Pathway-Focused PCR Arrays including TSC1 (see all 4): PAHS-027A PAHS-058A 
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for TSC1 SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TSC1
5/21 Interacting proteins for TSC1 (Q925741, 2 ENSP000002985523) via UniProtKB, MINT, and/or STRING (see all 21)About this table
5/31 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 31): About this table
TSC1 for ontologies About GeneDecksing
|
Drugs & Compounds for TSC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
TSC1 for compounds About GeneDecksing
Browse Tocris compounds for TSC1 10/14 Novoseek chemical compound relationships for TSC1 gene (see all 14)
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| rapamycin |
88 |
126 |
19917366 (4), 19539245 (3), 16453317 (3), 12384518 (2) (see all 70) |
| phosphoinositide |
44.8 |
4 |
12773160 (1), 16231158 (1), 12773161 (1), 12773163 (1) |
| phosphatidylinositol |
30 |
6 |
17013611 (1), 16459993 (1), 17910583 (1), 15809346 (1) (see all 5) |
| glucose |
2.7 |
3 |
17948886 (2), 18650261 (1) |
| guanosine |
0 |
1 |
14668532 (1) |
| threonine |
0 |
2 |
14993219 (1), 18067639 (1) |
| tyrosine |
0 |
1 |
11741832 (1) |
| pd 98,059 |
0 |
2 |
19539245 (2) |
| glycogen |
0 |
2 |
12511557 (1), 19464003 (1) |
| alanine |
0 |
1 |
14551205 (1) |
About this table
|
Transcripts for TSC1 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences) About This Section
|
REFSEQ mRNAs for TSC1 gene (3 alternative transcripts): NM_000368.4 NM_001162426.1 NM_001162427.1 Additional cDNA sequence: AB190910.1 AF013168.1 AK297326.1 AK299654.1 AK303030.1 AK308412.1 BC047772.2 BC070032.1 BC108668.1 BC121000.2 CR622174.1 D87683.1 8 DOTS entries: DT.215668 DT.100650171 DT.92465972 DT.92432512 DT.121207875 DT.121207866 DT.91699779 DT.121207872 24/194 AceView cDNA sequences (see all 194): BF447297 AA676652 BQ440277 BX470369 AI497695 AA279329 BM701217 BM717889 BC047772 BM668960 BI826974 CB161451 AW135340 AU133424 CR622174 BQ025971 AI194008 AW204605 BM991590 BM818698 BE221490 BQ712409 AA455968 BQ898588
highest scoring ESTs for TSC1:AF013168 AU279606 BI463204 BQ440277 BU162008 AA019928 AA215977 AA279329 AA279895 AA343088 Unigene Cluster for TSC1: Tuberous sclerosis 1 Hs.370854 [show with all ESTs]Unigene Representative Sequence: NM_000368
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TSC1 (see all 11)
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | |
| SP1: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | - |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for TSC1
8 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000424271(uc004ccd.2 uc004cce.1) ENST00000490179 ENST00000493467(uc004ccc.1) ENST00000461879 ENST00000298552(uc004cca.2 uc004ccb.3 uc011mcq.1 uc011mcr.1 uc011mcs.1) ENST00000403810 ENST00000475903 ENST00000440111
|
Expression for TSC1 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| TSC1 expression in normal and diseased human tissues
1 / 2 / 3 6 probe-sets matching TSC1 gene
Affymetrix probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 32599_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
0.44 |
0.94 |
AF013168 |
1.00 |
1.00 |
1.00 |
1 |
| 55939_at*2, 3
|
U95-B |
1 |
0.44 |
1.00 |
0.29 |
1.07 |
AI732454 |
0.40 |
1.00 |
0.76 |
1 |
| 209390_at2, 3
|
U133-A |
1 |
0.91 |
1.00 |
-- |
-- |
AF013168 |
1.00 |
1.00 |
1.00 |
1 |
| 233570_at*2, 3
|
U133-B |
1 |
0.27 |
1.00 |
-- |
-- |
AJ011377 |
0.20 |
1.00 |
0.72 |
1 |
| 209390_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 233570_at*2
|
U133Plus2 |
1 |
0.27 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
TSC1 for expression About GeneDecksing
Data from
Genenote 
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TCAACAATCC
SOURCE GeneReport for Unigene cluster: Hs.370854
Expression variation in blood from EXPOLDB for TSC1 UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574Tissue specificity: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver andkidney. Also expressed in embryonic kidney cells SABiosciences Expression via Pathway-Focused PCR Arrays including TSC1 (see all 4): PAHS-027A PAHS-058A 
|
Orthologs for TSC1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for TSC1 gene from 5/10 species (see all 10)
About this table Species with no ortholog for TSC1
ENSEMBL Gene Tree for TSC1 (if available) |
Paralogs for TSC1 gene(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
Genomic Variants for TSC1 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 9 pos | Sequence | Recs | AA Chg | Type | More | Recs | Allele freq | Pop | Total sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for TSC1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for TSC1 2 CNVs: 36923 36922 |  | QIAGEN SeqTarget long-range PCR primers for resequencing TSC1  |
|
Disorders & Mutations for TSC1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TSC1 for disorders About GeneDecksing
OMIM: 605284 disorders: 191100 606690 607341 UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574
Defects in TSC1 are the cause of tuberous sclerosis type 1 (TSC1) [MIM:191100]. It is an autosomal dominantmulti-system disorder that affects especially the brain, kidneys, heart, and skin. TS1C is characterized by hamartomas(benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias(developmental abnormalities of tissue combination). Clinical symptoms can range from benign hypopigmented macules ofthe skin to profound mental retardation with intractable seizures to premature death from a variety ofdisease-associated causes Defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341].FCDBC is a subtype of cortical displasias linked to chronic intractable epilepsy. Cortical dysplasias display a broadspectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, andapoptosis of neuronal precursors and neurons during cortical development
10/84 Novoseek disease relationships for TSC1 gene (see all 84)
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tuberous sclerosis |
98.7 |
724 |
11307618 (4), 20498439 (3), 9803264 (3), 15072102 (3) (see all 99) |
| lymphangioleiomyomatosis |
93 |
36 |
15257730 (2), 20235887 (2), 7791386 (1), 16424383 (1) (see all 26) |
| hamartoma |
91 |
127 |
18292222 (3), 11468687 (2), 8950679 (2), 10806479 (2) (see all 89) |
| angiomyolipoma |
90.9 |
67 |
10349994 (5), 19265534 (3), 15856327 (2), 18310401 (2) (see all 40) |
| astrocytoma subependymal giant cell |
90.3 |
24 |
15072102 (4), 15624760 (2), 8928613 (1), 18673443 (1) (see all 16) |
| angiofibroma |
85.8 |
30 |
12641776 (6), 10372905 (3), 18292222 (1), 10534239 (1) (see all 16) |
| lymphangioleiomyoma |
84.7 |
1 |
20043511 (1) |
| kidney angiomyolipoma |
82.3 |
6 |
17932460 (2), 11355103 (1), 19265534 (1) |
| lymphangiomyomatosis |
81 |
3 |
18414839 (1), 16382052 (1), 11208653 (1) |
| rhabdomyoma |
78.8 |
16 |
18414839 (2), 17357805 (2), 16877242 (2), 16095035 (1) (see all 11) |
About this table
Genatlas disease: TSC1 tuberous sclerosis 1,characterized by the development of hamartomas in cerebral cortex responsible of seizuresretardation and mental disorder including autism,cortical tuber,hamartomas in other organs,including subependymalnodules,facial angiofibromas,subungual fibromas,forehead plaques,shagreen patches,cardiac rhabdomyomas and renalangiomyololipomas GeneTests: TSC1 Tuberous Sclerosis Complex Locus Specific Mutation Databases (LSDB): TSC1 Human Gene Mutation Database (HGMD): TSC1 Genetic Association Database (GAD): TSC1 Human Genome Epidemiology (HuGE) Navigator: TSC1 (15 documents) Export disorders and mutations for TSC1 gene to outside databases
|
Medical News for TSC1 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for TSC1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
| 10/535 PubMed articles for TSC1 gene, integrated from 7 sources (see all 535): (articles sorted by number of sources associating them with TSC1)- Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. (PubMed id 9242607)1, 2, 3, 7 van Slegtenhorst M.A....Kwiatkowski D.J. (1997)
- Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. (PubMed id 9924605)1, 2, 4 Kwiatkowska J.... Kwiatkowski D.J. (1998)
- The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. (PubMed id 10806479)1, 3, 7 Lamb R.F....Hall A. (2000)
- Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. (PubMed id 10533067)1, 2, 7 Niida Y.... Ozelius L. (1999)
- Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. (PubMed id 9328481)1, 2, 7 Jones A.C.... Cheadle J.P. (1997)
- Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. (PubMed id 15798777)1, 4, 7 Sancak O....van den Ouweland A. (2005)
- [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism] (PubMed id 14756965)1, 4, 7 Feng J.H....Yang C.W. (2003)
- Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. (PubMed id 9580671)1, 2, 7 van Slegtenhorst M.A.... van der Sluijs P. (1998)
- Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. (PubMed id 15963462)1, 2, 7 Nellist M....Luider T.M. (2005)
- Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. (PubMed id 12271141)1, 2, 7 Tee A.R....Blenis J. (2002)
|
External Searches for TSC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing TSC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TSC1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing TSC1 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
|
About This Section
| Patent Information for TSC1 gene: Search GeneIP for patents involving TSC1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for TSC1 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn, Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences) About This Section
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| | | Search Tocris compounds for TSC1 |
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 | | ELISAs and CLIAs for TSC1 |
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