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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 7248 |
Name | TSC1 |
Synonym | LAM|TSC;tuberous sclerosis 1;TSC1;tuberous sclerosis 1 |
Definition | hamartin|tuberous sclerosis 1 protein|tumor suppressor |
Position | 9q34 |
Gene Type | protein-coding |
Source | Count: 4; Pubmed_search,TAG,Generif,UniProt |
Literature support | Count: 17 PubMed records as below. |
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Evidence Status |
Description |
reviewed | The tumor suppressor hamartin enhances Dbl protein transforming activity through interaction with ezrin. |
reviewed | FOXO3a regulates glycolysis via transcriptional control of tumor suppressor TSC1. |
reviewed | "Inhibition of mTORC1, pathologically activated by loss of the TSC1/TSC2 tumor suppressor complex, by sirolimus is a rational mechanistic target for therapy in PEComas." |
reviewed | "our data suggest that hamartin, which has mainly been regarded as an interaction partner in the tumor suppressor complex (TSC) with tuberin, has a pronounced independent functional relevance in the pathogenetic context of TSC and cortical dysplasias". |
reviewed | WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. |
reviewed | "According to Knudson's two-hit model of tumorigenesis, second-hit mutation and resulting loss of heterozygosity of a tumor suppressor gene (tsc1 and tsc2) is necessary for tumor formation". |
reviewed | Abnormal growth of smooth muscle-like cells in lymphangioleiomyomatosis: Role for tumor suppressor TSC2. |
reviewed | "Tuberous sclerosis tumor suppressors TSC1 and TSC2 form a protein complex that integrates and transmits cellular growth factor and stress signals to negatively regulate checkpoint kinase TOR activity, as described in this review." |
reviewed | Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase. |
reviewed | Cell size regulation by the human TSC tumor suppressor proteins depends on PI3K and FKBP38. |
| More detail of all 17 literatures about TSC1 | |
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Pathways and Diseases |
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Pathway | Insulin signaling pathway;KEGG PATHWAY;hsa04910 |
Pathway | Signaling by Insulin receptor;Reactome;REACT:498 |
Pathway | Regulation of Rheb GTPase activity by AMPK;PID Reactome;500503 |
Pathway | LKB1 signaling events;PID Curated;200061 |
Pathway | p53 pathway by glucose deprivation;PANTHER;P04397 |
Pathway | Insulin/IGF pathway-protein kinase B signaling cascade;PANTHER;P00033 |
Pathway | mTOR signaling pathway;KEGG PATHWAY;hsa04150 |
Pathway | Inhibition of TSC complex formation by PKB;PID Reactome;500906 |
Pathway | mTOR signaling pathway;PID Curated;200080 |
Disease | IMMUNE;GAD |
Disease | Psoriasis;NHGRI |
Disease | Skin disease;FunDO |
Disease | psoriasis;GAD |
Disease | Tuberous sclerosis;FunDO |
Disease | Focal cortical dysplasia, Taylor balloon cell type;OMIM |
Disease | Cancer;FunDO |
Disease | Infantile spasms;FunDO |
Disease | Tuberous sclerosis-1;OMIM |
Disease | Autistic disorder;FunDO |
Disease | Lymphangioleiomyomatosis;OMIM |
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External Links |
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Links to Entrez Gene | 7248 |
Links to all GeneRIF Items | 7248 |
Links to iHOP | 7248 |
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Sequence Information |
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Nucleotide Sequence |
>7248 : length: 3495 atggcccaacaagcaaatgtcggggagcttcttgccatgctggactcccccatgctgggt gtgcgggacgacgtgacagctgtctttaaagagaacctcaattctgaccgtggccctatg cttgtaaacaccttggtggattattacctggaaaccagctctcagccggcattgcacatc ctgaccaccttgcaagagccacatgacaagcacctcttggacaggattaacgaatatgtg ggcaaagccgccactcgtttatccatcctctcgttactgggtcatgtcataagactgcag ccatcttggaagcataagctctctcaagcacctcttttgccttctttactaaaatgtctc aagatggacactgacgtcgttgtcctcacaacaggcgtcttggtgttgataaccatgcta ccaatgattccacagtctgggaaacagcatcttcttgatttctttgacatttttggccgt ctgtcatcatggtgcctgaagaaaccaggccacgtggcggaagtctatctcgtccatctc catgccagtgtgtacgcactctttcatcgcctttatggaatgtacccttgcaacttcgtc tcctttttgcgttctcattacagtatgaaagaaaacctggagacttttgaagaagtggtc aagccaatgatggagcatgtgcgaattcatccggaattagtgactggatccaaggaccat gaactggaccctcgaaggtggaagagattagaaactcatgatgttgtgatcgagtgtgcc aaaatctctctggatcccacagaagcctcatatgaagatggctattctgtgtctcaccaa atctcagcccgctttcctcatcgttcagccgatgtcaccaccagcccttatgctgacaca cagaatagctatgggtgtgctacttctaccccttactccacgtctcggctgatgttgtta aatatgccagggcagctacctcagactctgagttccccatcgacacggctgataactgaa ccaccacaagctactctttggagcccatctatggtttgtggtatgaccactcctccaact tctcctggaaatgtcccacctgatctgtcacacccttacagtaaagtctttggtacaact gcaggtggaaaaggaactcctctgggaaccccagcaacctctcctcctccagccccactc tgtcattcggatgactacgtgcacatttcactcccccaggccacagtcacaccccccagg aaggaagagagaatggattctgcaagaccatgtctacacagacaacaccatcttctgaat gacagaggatcagaagagccacctggcagcaaaggttctgtcactctaagtgatcttcca gggtttttaggtgatctggcctctgaagaagatagtattgaaaaagataaagaagaagct gcaatatctagagaactttctgagatcaccacagcagaggcagagcctgtggttcctcga ggaggctttgactctcccttttaccgagacagtctcccaggttctcagcggaagacccac tcggcagcctccagttctcagggcgccagcgtgaaccctgagcctttacactcctccctg gacaagcttgggcctgacacaccaaagcaagcctttactcccatagacctgccctgcggc agtgctgatgaaagccctgcgggagacagggaatgccagacttctttggagaccagtatc ttcactcccagtccttgtaaaattccacctccgacgagagtgggctttggaagcgggcag cctcccccgtatgatcatctttttgaggtggcattgccaaagacagcccatcattttgtc atcaggaagactgaggagctgttaaagaaagcaaaaggaaacacagaggaagatggtgtg ccctctacctccccaatggaagtgctggacagactgatacagcagggagcagacgcgcac agcaaggagctgaacaagttgcctttacccagcaagtctgtcgactggacccactttgga ggctctcctccttcagatgagatccgcaccctccgagaccagttgcttttactgcacaac cagttactctatgagcgttttaagaggcagcagcatgccctccggaacaggcggctcctc cgcaaggtgatcaaagcagcagctctggaggaacataatgctgccatgaaagatcagttg aagttacaagagaaggacatccagatgtggaaggttagtctgcagaaagaacaagctaga tacaatcagctccaggagcagcgtgacactatggtaaccaagctccacagccagatcaga cagctgcagcatgaccgagaggaattctacaaccagagccaggaattacagacgaagctg gaggactgcaggaacatgattgcggagctgcggatagaactgaagaaggccaacaacaag gtgtgtcacactgagctgctgctcagtcaggtttcccaaaagctctcaaacagtgagtcg gtccagcagcagatggagttcttgaacaggcagctgttggttcttggggaggtcaacgag ctctatttggaacaactgcagaacaagcactcagataccacaaaggaagtagaaatgatg aaagccgcctatcggaaagagctagaaaaaaacagaagccatgttctccagcagactcag aggcttgatacctcccaaaaacggattttggaactggaatctcacctggccaagaaagac caccttcttttggaacagaagaaatatctagaggatgtcaaactccaggcaagaggacag ctgcaggccgcagagagcaggtatgaggctcagaaaaggataacccaggtgtttgaattg gagatcttagatttatatggcaggttggagaaagatggcctcctgaaaaaacttgaagaa gaaaaagcagaagcagctgaagcagcagaagaaaggcttgactgttgtaatgacgggtgc tcagattccatggtagggcacaatgaagaggcatctggccacaacggtgagaccaagacc cccaggcccagcagcgcccggggcagtagtggaagcagaggtggtggaggcagcagcagc agcagcagcgagctttctaccccagagaaacccccacaccagagggcaggcccattcagc agtcggtgggagacgactatgggagaagcgtctgccagcatccccaccactgtgggctca cttcccagttcaaaaagcttcctgggtatgaaggctcgagagttatttcgtaataagagc gagagccagtgtgatgaggacggcatgaccagtagcctttctgagagcctaaagacagaa ctgggcaaagacttgggtgtggaagccaagattcccctgaacctagatggccctcacccg tctcccccgaccccggacagtgttggacagctacatatcatggactacaatgagactcat catgaacacagctaa |
Protein Sequence |
>7248 : length: 1164 MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHI LTTLQEPHDKHLLDRINEYVGKAATRLSILSLLGHVIRLQPSWKHKLSQAPLLPSLLKCL KMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDH ELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQISARFPHRSADVTTSPYADT QNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPSTRLITEPPQATLWSPSMVCGMTTPPT SPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPATSPPPAPLCHSDDYVHISLPQATVTPPR KEERMDSARPCLHRQHHLLNDRGSEEPPGSKGSVTLSDLPGFLGDLASEEDSIEKDKEEA AISRELSEITTAEAEPVVPRGGFDSPFYRDSLPGSQRKTHSAASSSQGASVNPEPLHSSL DKLGPDTPKQAFTPIDLPCGSADESPAGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQ PPPYDHLFEVALPKTAHHFVIRKTEELLKKAKGNTEEDGVPSTSPMEVLDRLIQQGADAH SKELNKLPLPSKSVDWTHFGGSPPSDEIRTLRDQLLLLHNQLLYERFKRQQHALRNRRLL RKVIKAAALEEHNAAMKDQLKLQEKDIQMWKVSLQKEQARYNQLQEQRDTMVTKLHSQIR QLQHDREEFYNQSQELQTKLEDCRNMIAELRIELKKANNKVCHTELLLSQVSQKLSNSES VQQQMEFLNRQLLVLGEVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQ RLDTSQKRILELESHLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFEL EILDLYGRLEKDGLLKKLEEEKAEAAEAAEERLDCCNDGCSDSMVGHNEEASGHNGETKT PRPSSARGSSGSRGGGGSSSSSSELSTPEKPPHQRAGPFSSRWETTMGEASASIPTTVGS LPSSKSFLGMKARELFRNKSESQCDEDGMTSSLSESLKTELGKDLGVEAKIPLNLDGPHP SPPTPDSVGQLHIMDYNETHHEHS |