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Aliases for TSC1 Gene

Aliases for TSC1 Gene

  • TSC Complex Subunit 1 2 3 5
  • Tuberous Sclerosis 1 Protein 3 4
  • Hamartin 2 3
  • TSC 3 4
  • Tuberous Sclerosis 1 2
  • KIAA0243 4
  • LAM 3

External Ids for TSC1 Gene

Previous HGNC Symbols for TSC1 Gene

  • TSC

Previous GeneCards Identifiers for TSC1 Gene

  • GC09M126791
  • GC09M127323
  • GC09M129120
  • GC09M131042
  • GC09M134756
  • GC09M135766
  • GC09M105260

Summaries for TSC1 Gene

Entrez Gene Summary for TSC1 Gene

  • This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]

CIViC summary for TSC1 Gene

GeneCards Summary for TSC1 Gene

TSC1 (TSC Complex Subunit 1) is a Protein Coding gene. Diseases associated with TSC1 include Tuberous Sclerosis 1 and Focal Cortical Dysplasia, Type Ii. Among its related pathways are Gene Expression and Akt Signaling. Gene Ontology (GO) annotations related to this gene include binding and chaperone binding.

UniProtKB/Swiss-Prot for TSC1 Gene

  • In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400). Seems not to be required for TSC2 GAP activity towards RHEB (PubMed:15340059). Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling (By similarity). Acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1 (PubMed:29127155). Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity (PubMed:29127155). Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155).

Gene Wiki entry for TSC1 Gene

Additional gene information for TSC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSC1 Gene

Genomics for TSC1 Gene

GeneHancer (GH) Regulatory Elements for TSC1 Gene

Promoters and enhancers for TSC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J132943 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 660.6 +2.3 2339 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC TSC1 MIR548AW GFI1B SETX GTF3C5 MED22 TTF1 DDX31 MED27 RPL7A
GH09J132946 Enhancer 0.9 Ensembl ENCODE 650.7 +0.3 292 1.1 JUN ZSCAN4 FEZF1 RARA TEAD3 HIC1 GLIS2 PATZ1 PRDM10 NR2F6 TSC1 MIR548AW MED22 TTF1 GFI1B
GH09J132945 Enhancer 0.4 ENCODE 650.7 +1.0 957 0.1 RFX1 MLLT1 MIR548AW TSC1 GFI1B
GH09J133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 44.7 -83.8 -83833 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 GTF3C5 LOC105376306 SETX TTF1 MED22 DDX31 TSC1 GTF3C4 BRD3OS SPACA9
GH09J133333 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 36.6 -388.4 -388409 4.2 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SURF6 GTF3C5 TSC1 WDR5 BRD3 DDX31 GTF3C4 TTF1 LOC100130548 SETX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSC1 gene promoter:
  • Oct-B1
  • C/EBPbeta
  • POU2F2C
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B

Genomic Locations for TSC1 Gene

Genomic Locations for TSC1 Gene
chr9:132,891,348-132,946,874
(GRCh38/hg38)
Size:
55,527 bases
Orientation:
Minus strand
chr9:135,766,735-135,820,020
(GRCh37/hg19)
Size:
53,286 bases
Orientation:
Minus strand

Genomic View for TSC1 Gene

Genes around TSC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSC1 Gene

Proteins for TSC1 Gene

  • Protein details for TSC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92574-TSC1_HUMAN
    Recommended name:
    Hamartin
    Protein Accession:
    Q92574
    Secondary Accessions:
    • B7Z897
    • Q5VVN5

    Protein attributes for TSC1 Gene

    Size:
    1164 amino acids
    Molecular mass:
    129767 Da
    Quaternary structure:
    • Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones STIP1/HOP, CDC37, PPP5C, PTGES3/p23, TSC1 and client protein TSC2 (PubMed:29127155). Forms a complex composed of chaperones HSP90 and HSP70, co-chaperones CDC37, PPP5C, TSC1 and client protein TSC2, CDK4, AKT, RAF1 and NR3C1; this complex does not contain co-chaperones STIP1/HOP and PTGES3/p23 (PubMed:29127155). Forms a complex containing HSP90AA1, TSC1 and TSC2; TSC1 is required to recruit TCS2 to the complex (PubMed:29127155). Interacts (via C-terminus) with the closed form of HSP90AA1 (via the middle domain and TPR repeat-binding motif) (PubMed:29127155). Interacts with TSC2; the interaction stabilizes TSC2 and prevents TSC2 self-aggregation (PubMed:10585443, PubMed:15963462, PubMed:16464865, PubMed:9580671, PubMed:9809973, PubMed:29127155, PubMed:28215400). Interacts with DOCK7 (PubMed:15963462). Interacts with FBXW5 (PubMed:18381890). Interacts with TBC1D7 (PubMed:17658474).

    Three dimensional structures from OCA and Proteopedia for TSC1 Gene

    Alternative splice isoforms for TSC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSC1 Gene

Post-translational modifications for TSC1 Gene

  • Phosphorylation at Ser-505 does not affect interaction with TSC2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for TSC1 Gene

Domains & Families for TSC1 Gene

Gene Families for TSC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for TSC1 Gene

Blocks:
InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q92574

UniProtKB/Swiss-Prot:

TSC1_HUMAN :
  • The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.
Domain:
  • The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.
genes like me logo Genes that share domains with TSC1: view

Function for TSC1 Gene

Molecular function for TSC1 Gene

UniProtKB/Swiss-Prot Function:
In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400). Seems not to be required for TSC2 GAP activity towards RHEB (PubMed:15340059). Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling (By similarity). Acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1 (PubMed:29127155). Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity (PubMed:29127155). Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155).
GENATLAS Biochemistry:
hamartin,130kDa,widely expressed,homolog of a yeast protein of unknown function,putative growth suppressor gene,interacting with tuberin (TBR) through its coiled coil domain,localized to cytoplasmic vesicles,expressed in neuroglial cells of TSC tubers

Phenotypes From GWAS Catalog for TSC1 Gene

Gene Ontology (GO) - Molecular Function for TSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 9580671
GO:0030544 Hsp70 protein binding IDA 29127155
GO:0032794 GTPase activating protein binding IEA --
GO:0042030 ATPase inhibitor activity IDA 29127155
genes like me logo Genes that share ontologies with TSC1: view
genes like me logo Genes that share phenotypes with TSC1: view

Human Phenotype Ontology for TSC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSC1 Gene

MGI Knock Outs for TSC1:

Animal Model Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSC1

Clone Products

  • Addgene plasmids for TSC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TSC1 Gene

Localization for TSC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSC1 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes. {ECO:0000269 PubMed:9809973}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSC1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
cytoskeleton 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA,IDA 9580671
GO:0005811 lipid droplet IDA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TSC1: view

Pathways & Interactions for TSC1 Gene

genes like me logo Genes that share pathways with TSC1: view

SIGNOR curated interactions for TSC1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for TSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0001843 neural tube closure IEA --
GO:0001952 regulation of cell-matrix adhesion IMP 10806479
GO:0002250 adaptive immune response IEA --
GO:0006407 rRNA export from nucleus IMP 17308101
genes like me logo Genes that share ontologies with TSC1: view

Drugs & Compounds for TSC1 Gene

(16) Drugs for TSC1 Gene - From: PharmGKB, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 2011
Aspirin Approved, Vet_approved Pharma Channel blocker 1232
Miconazole Approved, Investigational, Vet_approved Pharma Channel blocker, Antagonist, Pore Blocker 3838
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 2011
Anti-Bacterial Agents Pharma 12177

(7) Additional Compounds for TSC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TSC1: view

Transcripts for TSC1 Gene

mRNA/cDNA for TSC1 Gene

Unigene Clusters for TSC1 Gene

Tuberous sclerosis 1:
Representative Sequences:

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSC1

Clone Products

  • Addgene plasmids for TSC1

Alternative Splicing Database (ASD) splice patterns (SP) for TSC1 Gene

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: - - -
SP6: - - -
SP7: -
SP8:
SP9: -
SP10:
SP11:

ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TSC1 Gene

GeneLoc Exon Structure for
TSC1
ECgene alternative splicing isoforms for
TSC1

Expression for TSC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSC1 Gene

Protein differential expression in normal tissues from HIPED for TSC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.8), Frontal cortex (10.0), Fetal Brain (8.6), and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TSC1 Gene



Protein tissue co-expression partners for TSC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TSC1 Gene:

TSC1

SOURCE GeneReport for Unigene cluster for TSC1 Gene:

Hs.370854

mRNA Expression by UniProt/SwissProt for TSC1 Gene:

Q92574-TSC1_HUMAN
Tissue specificity: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.

Evidence on tissue expression from TISSUES for TSC1 Gene

  • Nervous system(4.4)
  • Blood(4.3)
  • Liver(4.3)
  • Bone marrow(4.2)
  • Kidney(2.6)
  • Skin(2.3)
  • Heart(2.2)
  • Muscle(2.2)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • scalp
  • skull
  • thyroid
  • tooth
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • digit
  • finger
  • hand
  • lower limb
  • nail
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with TSC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TSC1 Gene

Orthologs for TSC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSC1 34 33
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TSC1 34 33
  • 87.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TSC1 34 33
  • 87.46 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSC1 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tsc1 16 34 33
  • 85.97 (n)
rat
(Rattus norvegicus)
Mammalia Tsc1 33
  • 85.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves TSC1 34 33
  • 77.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSC1 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tsc1 33
  • 64.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3740 33
zebrafish
(Danio rerio)
Actinopterygii tsc1a 34 33
  • 54.57 (n)
OneToMany
tsc1b 34
  • 48 (a)
OneToMany
wufa99f04 33
fruit fly
(Drosophila melanogaster)
Insecta Tsc1 34 35
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
CSA.2393 34
  • 30 (a)
OneToMany
Species where no ortholog for TSC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TSC1 Gene

ENSEMBL:
Gene Tree for TSC1 (if available)
TreeFam:
Gene Tree for TSC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSC1: view image

Paralogs for TSC1 Gene

No data available for Paralogs for TSC1 Gene

Variants for TSC1 Gene

Sequence variations from dbSNP and Humsavar for TSC1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1007335343 uncertain-significance, Tuberous sclerosis 1 132,923,353(-) T/G coding_sequence_variant, missense_variant
rs1011421675 uncertain-significance, Focal cortical dysplasia type II, Tuberous sclerosis syndrome 132,892,951(-) G/A/T 3_prime_UTR_variant
rs1031508405 likely-benign, Tuberous sclerosis 1 132,900,727(-) T/C coding_sequence_variant, synonymous_variant
rs1032043950 uncertain-significance, Tuberous sclerosis syndrome, Focal cortical dysplasia type II 132,895,937(-) T/C/G 3_prime_UTR_variant
rs1033725987 uncertain-significance, Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome 132,902,693(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TSC1 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV deletion 23290073
esv3621927 CNV gain 21293372
nsv1038328 CNV loss 25217958
nsv471879 CNV novel sequence insertion 20440878
nsv509329 CNV insertion 20534489
nsv6745 CNV insertion 18451855
nsv831743 CNV loss 17160897

Variation tolerance for TSC1 Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.45; 71.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSC1 Gene

Human Gene Mutation Database (HGMD)
TSC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSC1 Gene

Disorders for TSC1 Gene

MalaCards: The human disease database

(33) MalaCards diseases for TSC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TSC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TSC1_HUMAN
  • Tuberous sclerosis 1 (TSC1) [MIM:191100]: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It 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 manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. {ECO:0000269 PubMed:10227394, ECO:0000269 PubMed:10533069, ECO:0000269 PubMed:10570911, ECO:0000269 PubMed:10874311, ECO:0000269 PubMed:11829138, ECO:0000269 PubMed:18830229, ECO:0000269 PubMed:22161988, ECO:0000269 PubMed:9328481}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lymphangioleiomyomatosis (LAM) [MIM:606690]: Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex. {ECO:0000269 PubMed:11829138}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Focal cortical dysplasia 2 (FCORD2) [MIM:607341]: A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells. {ECO:0000269 PubMed:28215400}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TSC1 Gene

tuberous sclerosis 1,characterized by the development of hamartomas in cerebral cortex responsible of seizures retardation and mental disorder including autism,cortical tuber,hamartomas in other organs,including subependymal nodules,facial angiofibromas,subungual fibromas,forehead plaques,shagreen patches,cardiac rhabdomyomas and renal angiomyololipomas

Additional Disease Information for TSC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TSC1: view

Publications for TSC1 Gene

  1. Missense mutations to the TSC1 gene cause tuberous sclerosis complex. (PMID: 18830229) Nellist M … Halley D (European journal of human genetics : EJHG 2009) 3 4 22 58
  2. Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. (PMID: 19175396) Gumbinger C … Fauser S (Epilepsia 2009) 3 22 44 58
  3. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. (PMID: 16464865) Chong-Kopera H … Guan KL (The Journal of biological chemistry 2006) 3 4 22 58
  4. 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. (PMID: 15798777) Sancak O … van den Ouweland A (European journal of human genetics : EJHG 2005) 3 22 44 58
  5. [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism]. (PMID: 14756965) Feng JH … Yang CW (Zhonghua er ke za zhi = Chinese journal of pediatrics 2003) 3 22 44 58

Products for TSC1 Gene

Sources for TSC1 Gene