TSC1 Gene
protein-coding GIFtS: 70
GCID: GC09M135766
|
|
tuberous sclerosis 1
(Previous symbol: TSC)
| |
Aliases
for TSC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Tuberous Sclerosis 11 2 | | KIAA02431 3 | | TSC1 2 3 | | Tuberous Sclerosis 1 Protein2 3 | | LAM1 2 5 | | Tumor Suppressor2 | | Hamartin1 | | |
Export aliases for TSC1 gene to outside databasesPrevious GC identifers: GC09M126791 GC09M127323 GC09M129120 GC09M131042 GC09M132796 GC09M134756 GC09M105260 |
Summaries
for TSC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
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, Jun 2009)
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_035014.4
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TSC1 gene promoter:
POU2F2 (Oct-2.1) Oct-B1 C/EBPbeta oct-B3 oct-B2 POU2F2 POU2F2C POU2F1 POU2F1a POU2F2B
Other transcription factors
Search SABiosciences Chromatin IP Primers for TSC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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 information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M135766: view genomic region
(about GC identifiers)
Start:
|
135,766,735 bp from pter |
End:
|
135,820,020 bp from pter |
Size:
|
53,286 bases |
Orientation:
|
minus strand |
|
Proteins
for TSC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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. Interacts with FBXW5 and TBC1D7
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association withmembranes
Secondary accessions: B7Z897 Q5VVN5Alternative splicing: 2 isoforms: Q92574-1 Q92574-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TSC1: NX_Q92574
Post-translational modifications:
Phosphorylation at Ser-505 does not affect interaction with TSC21
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q92574
TSC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_000359.1 NP_001155898.1 NP_001155899.1
ENSEMBL proteins: ENSP00000298552 ENSP00000386093 ENSP00000394524 ENSP00000444017 ENSP00000438099 Reactome Protein details: Q92574
Human Recombinant Protein Products:
Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table
TSC1 for ontologies About GeneDecksing
TSC1 Antibody Products:
Assay Products 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 |
Function
for TSC1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
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 tubers
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSC1 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSC1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for TSC1 | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TSC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSC1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
TSC1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for TSC1:
Animal Models:
Mouse knock-out Tsc1tm1.1Djk for TSC1
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
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/21 super-pathways (see all 21) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | IRS-related events | | | 2 | Development_CNTF receptor signaling | | | 3 | Development IGF-RI signaling | | | 4 | mTOR signalling | | | 5 | Energy dependent regulation of mTOR by LKB1-AMPK | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4 EMD Millipore Pathways for TSC1
5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TSC1 (see all 6)
2 
Cell Signaling Technology (CST) Pathways for TSC1
4  GeneGo (Thomson Reuters) Pathways for TSC1
5/7  BioSystems Pathways for TSC1 (see all 7)
5/14 
Reactome Pathways for TSC1 (see all 14)
2 
Kegg Pathways (Kegg details for TSC1):
TSC1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TSC1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/91 Interacting proteins for TSC1 (Q925741, 2, 3 ENSP000002985524) via UniProtKB, MINT, STRING, and/or I2D (see all 91)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| TSC2 | P498151, 2, 3, ENSP000002194764 | EBI-1386638,EBI-396587 MINT-7712436 MINT-8057200 MINT-16238 MINT-8057213 I2D:
score=10 STRING: ENSP00000219476 | | YWHAB | P319462, 3, ENSP000003001614 | MINT-50948 I2D:
score=5 STRING: ENSP00000300161 | | YWHAG | P619812, 3, ENSP000003063304 | MINT-50797 I2D:
score=5 STRING: ENSP00000306330 | | NGFRAP1 | Q009941, 3, ENSP000003617184 | EBI-1386638,EBI-741753 I2D:
score=3 STRING: ENSP00000361718 | | HBA1 | P699053, ENSP000003224214 | I2D:
score=2 STRING: ENSP00000322421 |
About this table
Gene Ontology (GO): 5/31 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,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
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) About this table
| 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) |
Search CenterWatch for drugs/clinical trials and news about TSC1
|
Transcripts
for TSC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TSC1 gene (4 alternative transcripts): NM_000368.4 NM_001162426.1 NM_001162427.1 NM_001008567.1 Unigene Cluster for TSC1: Tuberous sclerosis 1 Hs.370854 [show with all ESTs]Unigene Representative Sequence: NM_0003689 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000298552(uc004cca.2 uc004ccb.3 uc011mcq.1 uc011mcr.2 uc011mcs.1)
ENST00000493467(uc004ccc.1) ENST00000403810(uc004cce.1) ENST00000461879
ENST00000475903 ENST00000490179 ENST00000440111 ENST00000545250 ENST00000537172
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSC1 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSC1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for TSC1 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TSC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSC1 |
Additional cDNA sequence: AB190910.1 AF013168.1 AK297326.1 AK299654.1 AK303030.1 AK308412.1 BC047772.2 BC070032.1 BC108668.1 BC121000.2 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): BF475361 AA455968 BM706039 CR622174 BM668960 BQ898588 AA676652 BE223028 AI497695 F37163 BQ010082 BM701217 BC047772 AW135340 BM991590 AA343088 AI194008 CB269623 AW204605 BE221490 AU133424 BQ025971 BM818698 AA279329
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TSC1 (see all 11) About this scheme
| 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: | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TSC1
|
Expression
for TSC1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TSC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAACAATCC
About this image
See TSC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TSC1
SOURCE GeneReport for Unigene cluster: Hs.370854
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:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TSC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TSC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC1 |
Orthologs
for TSC1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for TSC1 gene from 6/18 species (see all 18) About this table
ENSEMBL Gene Tree for TSC1 (if available)
TreeFam Gene Tree for TSC1 (if available) |
Paralogs
for TSC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for TSC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TSC1 (135766735 - 135820020 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for TSC1
2 CNVs: 36923 36922
Human Gene Mutation Database (HGMD): TSC1
Locus Specific Mutation Databases (LSDB): TSC1
| 5 SABiosciences Cancer Mutation PCR Assays for TSC1: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TSC1 |
|
Disorders
/ Diseases
for TSC1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TSC1 for disorders About GeneDecksing
OMIM gene information: 605284
OMIM 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
20/89  diseases for TSC1 (see all 89): About MalaCardstuberous sclerosis focal cortical dysplasia, taylor balloon cell type focal cortical dysplasia of taylor focal cortical dysplasia
peutz-jeghers syndrome subependymal giant cell astrocytoma end stage renal failure perivascular epithelioid cell tumor
islet cell tumor angiomyolipoma developmental disabilities pleomorphic xanthoastrocytoma
epilepsies, partial kidney angiomyolipoma pilocytic astrocytoma obstructive hydrocephalus
pancreatic islet cell tumors polycystic kidney disease cowden disease learning disability
8 diseases from the University of Copenhagen DISEASES database for TSC1:Lymphangioleiomyomatosis Autosomal dominant disease Kidney angiomyolipoma Genetic disorder
Intellectual disability Angiomyolipoma Autistic disorder Subependymal giant cell astrocytoma 10/84 Novoseek disease relationships for TSC1 gene (see all 84) About this table
| 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) |
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
Genetic Association Database (GAD): TSC1
Human Genome Epidemiology (HuGE) Navigator: TSC1 (16 documents)
Export disorders for TSC1 gene to outside databases
|
Publications
for TSC1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for TSC1 gene, integrated from 9 sources (see all 558):
(articles sorted by number of sources associating them with TSC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. (PubMed id 9242607)1, 2, 3, 9 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, 9 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, 9 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, 9 Jones A.C.... Cheadle J.P. (1997)
- TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. (PubMed id 16464865)1, 2, 9 Chong-Kopera H....Guan K.L. (2006)
- 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, 9 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, 9 Feng J.H....Yang C.W. (2003)
- Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. (PubMed id 9580671)1, 2, 9 van Slegtenhorst M.A.... van der Sluijs P. (1998)
- WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. (PubMed id 18381890)1, 2, 9 Hu J....Xiong Y. (2008)
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External Searches for TSC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing TSC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing TSC1 gene
(According to HUGE)
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Specialized Databases showing TSC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for TSC1 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for TSC1 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TSC1 |
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| 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 from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for TSC1 | | OriGene shRNA RFP for TSC1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TSC1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TSC1 | | | OriGene Protein Over-expression Lysate for TSC1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TSC1 | | OriGene 3'-UTR Clone for TSC1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSC1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSC1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TSC1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TSC1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSC1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TSC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSC1 |
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