TSC1 (Tuberous Sclerosis 1)
2001-11-01 Marjon van Slegtenhorst , Elizabeth Petri Henske AffiliationFox Chase Cancer Center, 7701 Burholme Ave, Philadelphia PA 19111, USA
DNA/RNA
Description
23 exons, of which 21 are coding; start codon is in exon 3. Different splice variants in the 5UTR
Transcription
1 major detected transcript at 8.6 kb, 2 additional transcripts at 4 and 2.5 kb respectively; open reading frame : 3492 bp
Proteins
Note
called hamartin
Description
1164 amino acids, 130 kDa; C-terminal coiled-coil domain (amino acids 730 to 965)
Expression
housekeeping
Localisation
cytoplasmic localisation
Function
binds to ezrin, member of the ERM (ezrin-moesin-radixin) actin binding proteins
Homology
no strong matches with vertebrate proteins
Mutations
Germinal
germline mutations cause tuberous sclerosis, known as a multiple hamartoma syndrome, autosomal dominant pattern of inheritance. Mutations are inactivating by protein truncation, no missense mutations documented. Some cases of germline mosaicism
Implicated in
Entity name
Note
Classified as one of the phakomatosis, a group of disorders which also includes neurofibromatosis type 1 and neurofibromatosis type 2, von Hippel-Lindau disease and Sturge-Weber syndrome
Disease
Growth of a variety of benign tumors (hamartomas) in multiple organs. Disease is clinically variable. Organs most frequently involved are the heart, skin, brain, lung and kidneys.
Prognosis
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11290735 | 2001 | Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis. | Aicher LD et al |
| 11175345 | 2000 | The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. | Benvenuto G et al |
| 11444800 | 2001 | Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B. | Catania MG et al |
| 11130985 | 2000 | Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. | Cheadle JP et al |
| 11112665 | 2001 | Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. | Dabora SL et al |
| 11013439 | 2000 | Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. | Hendy GN et al |
| 11266527 | 2001 | Hamartin and tuberin expression in human tissues. | Johnson MW et al |
| 10205261 | 1999 | Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. | Jones AC et al |
| 11438694 | 2001 | A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. | Kobayashi T et al |
| 10806479 | 2000 | The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. | Lamb RF et al |
| 10915759 | 2000 | The TSC1 gene product, hamartin, negatively regulates cell proliferation. | Miloloza A et al |
| 10585443 | 1999 | Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin. | Nellist M et al |
| 10349994 | 1999 | The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas. | Plank TL et al |
| 9809973 | 1998 | Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. | Plank TL et al |
| 11348592 | 2001 | Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size. | Potter CJ et al |
| 11348591 | 2001 | The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation. | Tapon N et al |
| 10227394 | 1999 | Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. | van Slegtenhorst M et al |
Other Information
Locus ID:
NCBI: 7248
MIM: 605284
HGNC: 12362
Ensembl: ENSG00000165699
Variants:
dbSNP: 7248
ClinVar: 7248
TCGA: ENSG00000165699
COSMIC: TSC1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA131285571 | aspirin-induced asthma | Disease | ClinicalAnnotation | associated | PD | ||
| PA37035 | TSC2 | Gene | DataAnnotation | associated | |||
| PA443450 | Asthma | Disease | ClinicalAnnotation | associated | PD | ||
| PA445965 | Tuberous Sclerosis | Disease | DataAnnotation, Literature, MultilinkAnnotation | associated | 23788249 | ||
| PA448497 | aspirin | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38212374 | 2024 | The role of TSC1 and TSC2 proteins in neuronal axons. | 0 |
| 38212374 | 2024 | The role of TSC1 and TSC2 proteins in neuronal axons. | 0 |
| 36592877 | 2023 | TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases. | 1 |
| 36719021 | 2023 | Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study. | 0 |
| 36727758 | 2023 | TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : Several Distinct Entities or a Tumor Family? | 1 |
| 37020385 | 2023 | Tuberous sclerosis complex-1 (TSC1) contributes to selective neuronal vulnerability in Alzheimer's disease. | 1 |
| 37949232 | 2023 | CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling. | 0 |
| 36592877 | 2023 | TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases. | 1 |
| 36719021 | 2023 | Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study. | 0 |
| 36727758 | 2023 | TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : Several Distinct Entities or a Tumor Family? | 1 |
| 37020385 | 2023 | Tuberous sclerosis complex-1 (TSC1) contributes to selective neuronal vulnerability in Alzheimer's disease. | 1 |
| 37949232 | 2023 | CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling. | 0 |
| 34131293 | 2022 | Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions. | 6 |
| 34728310 | 2022 | Long noncoding RNA KB-1460A1.5 inhibits glioma tumorigenesis via miR-130a-3p/TSC1/mTOR/YY1 feedback loop. | 6 |
| 34756499 | 2022 | Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia. | 2 |
Citation
Marjon van Slegtenhorst ; Elizabeth Petri Henske
TSC1 (Tuberous Sclerosis 1)
Atlas Genet Cytogenet Oncol Haematol. 2001-11-01
Online version: http://atlasgeneticsoncology.org/gene/183
