| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
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 |
Pathways and Diseases | |
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 |
External Links | |
Links to Entrez Gene | 7248 |
Links to all GeneRIF Items | 7248 |
Links to iHOP | 7248 |
Sequence Information | |
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 |