| Gene ID | 7248 |
| Symbol | TSC1 |
| Synonymous | LAM|TSC |
| Full name | tuberous sclerosis 1 |
| Gene description | hamartin|tuberous sclerosis 1 protein|tumor suppressor |
| Cytoband | 9q34 |
| Gene type | protein-coding |
| Synonymous | MIM:605284; HGNC:HGNC:12362; Ensembl:ENSG00000165699; HPRD:05594; Vega:OTTHUMG00000020844 |
Pathways and Diseases | Detail |
|---|---|
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 |
Sequence Information | |
|---|---|
Nucleotide Sequence | >7248 : length: 8710 GTTCTGATTTTCAAGCTGTCTCCTATTAGGGCTGGTTTCCCCTAGATGTCATGAGTAGGTGTGAAGTGTGAGCTACTTGAAGGCAGAAGCCAGGGGGGTCCCCCGCAATCCCGGAGGCGG GCTTCTGAAAATGTTTAGCCCAGGAAGGAGGGCTGCCCTGGCCCGCAGCTTTCCGCCCCTTCCCAGTGACCATGAAAGACACCAGGTTGACAGCACTGGAAACTGAAGTACCAGTTGTCG CTAGAACAGTTTGGTAGTGGCCCCAATGAAGAACCTTCAGAACCTGTAGCACACGTCCTGGAGCCAGCACAGCGCCTTCGAGCGAGAGAATGGCCCAACAAGCAAATGTCGGGGAGCTTC TTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACCTCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGG AAACCAGCTCTCAGCCGGCATTGCACATCCTGACCACCTTGCAAGAGCCACATGACAAGCACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCT CGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAGATGGACACTGACGTCGTTGTCCTCACAA CAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCC ACGTGGCGGAAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAAG AAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCATGAACTGGACCCTCGAAGGTGGAAGAGATTAG AAACTCATGATGTTGTGATCGAGTGTGCCAAAATCTCTCTGGATCCCACAGAAGCCTCATATGAAGATGGCTATTCTGTGTCTCACCAAATCTCAGCCCGCTTTCCTCATCGTTCAGCCG ATGTCACCACCAGCCCTTATGCTGACACACAGAATAGCTATGGGTGTGCTACTTCTACCCCTTACTCCACGTCTCGGCTGATGTTGTTAAATATGCCAGGGCAGCTACCTCAGACTCTGA GTTCCCCATCGACACGGCTGATAACTGAACCACCACAAGCTACTCTTTGGAGCCCATCTATGGTTTGTGGTATGACCACTCCTCCAACTTCTCCTGGAAATGTCCCACCTGATCTGTCAC ACCCTTACAGTAAAGTCTTTGGTACAACTGCAGGTGGAAAAGGAACTCCTCTGGGAACCCCAGCAACCTCTCCTCCTCCAGCCCCACTCTGTCATTCGGATGACTACGTGCACATTTCAC TCCCCCAGGCCACAGTCACACCCCCCAGGAAGGAAGAGAGAATGGATTCTGCAAGACCATGTCTACACAGACAACACCATCTTCTGAATGACAGAGGATCAGAAGAGCCACCTGGCAGCA AAGGTTCTGTCACTCTAAGTGATCTTCCAGGGTTTTTAGGTGATCTGGCCTCTGAAGAAGATAGTATTGAAAAAGATAAAGAAGAAGCTGCAATATCTAGAGAACTTTCTGAGATCACCA CAGCAGAGGCAGAGCCTGTGGTTCCTCGAGGAGGCTTTGACTCTCCCTTTTACCGAGACAGTCTCCCAGGTTCTCAGCGGAAGACCCACTCGGCAGCCTCCAGTTCTCAGGGCGCCAGCG TGAACCCTGAGCCTTTACACTCCTCCCTGGACAAGCTTGGGCCTGACACACCAAAGCAAGCCTTTACTCCCATAGACCTGCCCTGCGGCAGTGCTGATGAAAGCCCTGCGGGAGACAGGG AATGCCAGACTTCTTTGGAGACCAGTATCTTCACTCCCAGTCCTTGTAAAATTCCACCTCCGACGAGAGTGGGCTTTGGAAGCGGGCAGCCTCCCCCGTATGATCATCTTTTTGAGGTGG CATTGCCAAAGACAGCCCATCATTTTGTCATCAGGAAGACTGAGGAGCTGTTAAAGAAAGCAAAAGGAAACACAGAGGAAGATGGTGTGCCCTCTACCTCCCCAATGGAAGTGCTGGACA GACTGATACAGCAGGGAGCAGACGCGCACAGCAAGGAGCTGAACAAGTTGCCTTTACCCAGCAAGTCTGTCGACTGGACCCACTTTGGAGGCTCTCCTCCTTCAGATGAGATCCGCACCC TCCGAGACCAGTTGCTTTTACTGCACAACCAGTTACTCTATGAGCGTTTTAAGAGGCAGCAGCATGCCCTCCGGAACAGGCGGCTCCTCCGCAAGGTGATCAAAGCAGCAGCTCTGGAGG AACATAATGCTGCCATGAAAGATCAGTTGAAGTTACAAGAGAAGGACATCCAGATGTGGAAGGTTAGTCTGCAGAAAGAACAAGCTAGATACAATCAGCTCCAGGAGCAGCGTGACACTA TGGTAACCAAGCTCCACAGCCAGATCAGACAGCTGCAGCATGACCGAGAGGAATTCTACAACCAGAGCCAGGAATTACAGACGAAGCTGGAGGACTGCAGGAACATGATTGCGGAGCTGC GGATAGAACTGAAGAAGGCCAACAACAAGGTGTGTCACACTGAGCTGCTGCTCAGTCAGGTTTCCCAAAAGCTCTCAAACAGTGAGTCGGTCCAGCAGCAGATGGAGTTCTTGAACAGGC AGCTGTTGGTTCTTGGGGAGGTCAACGAGCTCTATTTGGAACAACTGCAGAACAAGCACTCAGATACCACAAAGGAAGTAGAAATGATGAAAGCCGCCTATCGGAAAGAGCTAGAAAAAA ACAGAAGCCATGTTCTCCAGCAGACTCAGAGGCTTGATACCTCCCAAAAACGGATTTTGGAACTGGAATCTCACCTGGCCAAGAAAGACCACCTTCTTTTGGAACAGAAGAAATATCTAG AGGATGTCAAACTCCAGGCAAGAGGACAGCTGCAGGCCGCAGAGAGCAGGTATGAGGCTCAGAAAAGGATAACCCAGGTGTTTGAATTGGAGATCTTAGATTTATATGGCAGGTTGGAGA AAGATGGCCTCCTGAAAAAACTTGAAGAAGAAAAAGCAGAAGCAGCTGAAGCAGCAGAAGAAAGGCTTGACTGTTGTAATGACGGGTGCTCAGATTCCATGGTAGGGCACAATGAAGAGG CATCTGGCCACAACGGTGAGACCAAGACCCCCAGGCCCAGCAGCGCCCGGGGCAGTAGTGGAAGCAGAGGTGGTGGAGGCAGCAGCAGCAGCAGCAGCGAGCTTTCTACCCCAGAGAAAC CCCCACACCAGAGGGCAGGCCCATTCAGCAGTCGGTGGGAGACGACTATGGGAGAAGCGTCTGCCAGCATCCCCACCACTGTGGGCTCACTTCCCAGTTCAAAAAGCTTCCTGGGTATGA AGGCTCGAGAGTTATTTCGTAATAAGAGCGAGAGCCAGTGTGATGAGGACGGCATGACCAGTAGCCTTTCTGAGAGCCTAAAGACAGAACTGGGCAAAGACTTGGGTGTGGAAGCCAAGA TTCCCCTGAACCTAGATGGCCCTCACCCGTCTCCCCCGACCCCGGACAGTGTTGGACAGCTACATATCATGGACTACAATGAGACTCATCATGAACACAGCTAAGGAATGATGGTCAATC AGTGTTAACTTGCATATTGTTGGCACAGAACAGGAGGTGTGAATGCACGTTTCAAAGCTTTCCTGTTTCCAGGGTCTGAGTGCAAGTTCATGTGTGGAAATGGGACGGAGGTCCTTTGGA CAGCTGACTGAATGCAGAACGGTTTTTGGATCTGGCATTGAAATGCCTCTTGACCTTCCCCTCCACCCGCCCTAACCCCCTCTCATTTACCTCGCAGTGTGTTCTAATCCAAGGGCCAGT TGGTGTTCCTCAGTAGCTTTACTTTCTTCCTTTCCCCCCCAAATGGTTGCGTCCTTTGAACCTGTGCAATATGAGGCCAAATTTAATCTTTGAGTCTAACACACCACTTTCTGCTTTCCC GAAGTTCAGATAACTGGGTTGGCTCTCAATTAGACCAGGTAGTTTGTTGCATTGCAGGTAAGTCTGGTTTTGTCCCTTCCAGGAGGACATAGCCTGCAAAGCTGGTTGTCTTTACATGAA AGCGTTTACATGAGACTTTCCGACTGCTTTTTTGATTCTGAAGTTCAGCATCTAAAGCAGCAGGTCTAGAAGAACAACGGTTTATTCATACTTGCATTCTTTTGGCAGTTCTGATAAGCT TCCTAGAAAGTTCTGTGTAAACAGAAGCCTGTTTCAGAAATCTGGAGCTGGCACTGTGGAGACCACACACCCTTTGGGAAAGCTCTTGTCTCTTCTTCCCCCACTACCTCTTATTTATTT GGTGTTTGCTTGAATGCTGGTACTATTGTGACCACAGGCTGGTGTGTAGGTGGTAAAACCTGTTCTCCATAGGAGGGAAGGAGCAGTCACTGGGAGAGGTTACCCGAGAAGCACTTGAGC ATGAGGAACTGCACCTTTAGGCCATCTCAGCTTGCTGGGCCTTTTGTTAAACCCTTCTGTCTACTGGCCTCCCTTTGTGTGCATACGCCTCTTGTTCATGTCAGCTTATATGTGACACTG CAGCAGAAAGGCTCTGAAGGTCCAAAGAGTTTCTGCAAAGTGTATGTGACCATCATTTCCCAGGCCATTAGGGTTGCCTCACTGTAGCAGGTTCTAGGCTACCAGAAGAGGGGCAGCTTT TTCATACCAATTCCAACTTTCAGGGGCTGACTCTCCAGGGAGCTGATGTCATCACACTCTCCATGTTAGTAATGGCAGAGCAGTCTAAACAGAGTCCGGGAGAATGCTGGCAAAGGCTGG CTGTGTATACCCACTAGGCTGCCCCACGTGCTCCCGAGAGATGACACTAGTCAGAAAATTGGCAGTGGCAGAGAATCCAAACTCAACAAGTGCTCCTGAAAGAAACGCTAGAAGCCTAAG AACTGTGGTCTGGTGTTCCAGCTGAGGCAGGGGGATTTGGTAGGAAGGAGCCAGTGAACTTGGCTTTCCTGTTTCTATCTTTCATTAAAAAGAATAGAAGGATTCAGTCATAAAGAGGTA AAAAACTGTCACGGTACGAAATCTTAGTGCCCACGGAGGCCTCGAGCAGAGAGAATGAAAGTCTTTTTTTTTTTTTTTTTTTTTTAGCATGGCAATAAATATTCTAGCATCCCTAACTAA AGGGGACTAGACAGTTAGAGACTCTGTCACCCTAGCTATACCAGCAGAAAACCTGTTCAGGCAGGCTTTCTGGGTGTGACTGATTCCCAGCCTGTGGCAGGGCGTGGTCCCAACTACTCA GCCTAGCACAGGCTGGCAGTTGGTACTGAATTGTCAGATGTGGAGTATTAGTGACACCACACATTTAATTCAGCTTTGTCCAAAGGAAAGCTTAAAACCCAATACAGTCTAGTTTCCTGG TTCCGTTTTAGAAAAGGAAAACGTGAACAAACTTAGAAAGGGAAGGAAATCCCATCAGTGAATCCTGAAACTGGTTTTAAGTGCTTTCCTTCTCCTCATGCCCAAGAGATCTGTGCCATA GAACAAGATACCAGGCACTTAAAGCCTTTTCCTGAATTGGAAAGGAAAAGAGGCCCAAGTGCAAAAGAAAAAACATTTTAGAAACGGACAGCTTATAAAAATAAAGGGAAGAAAGGAGGC AGCATGGAGAGAGGCCTGTGCTAGAAGCTCCATGGACGTGTCTGCACAGGGTCCTCAGCTCATCCATGCGGCCTGGGTGTCCTTTTACTCAGCTTTATAACAAATGTGGCTCCAAGCTCA GGTGCCTTTGAGTTCTAGGAGGCTGTGGGTTTTATTCAACTACGGTTGGGAGAATGAGACCTGGAGTCATGTTGAAGGTGCCCAACCTAAAAATGTAGGCTTTCATGTTGCAAAGAACTC CAGAGTCAGTAGTTAGGTTTGGTTTGGTTTTGGACATGATAAACCTGCCAAGAGTCAACAGGTCACTTGATCATGCTGCAGTGGGTAGTTCTAAGGATGGAAAGGTGACAGTATTACTCT CGAGAGGCAATTCAGTCCTGGGCAAAGGTATTAGTACAATAAGCGTTAAGGGCAGAGTCTACCTTGAAACCAATTAAGCAGCTTGGTATTCATAAATATTGGGATTGGATGGCCTCCATC CAGAAATCACTATGGGTGAGCATACCTGTCTCAGCTGTTTGGCCAATGTGCATAACCTACTCGGATCCCCACCTGACACTAACCAGAGTCAGCACAGGCCCCGAGGAGCCCGAAGTCTGC TGCTGTGCAGCATGGAATTCCTTTAAAAAGGTGCACTACAGTTTTAGCGGGGAGGGGGATAGGAAGACGCAGAGCAAATGAGCTCCGGAGTCCCTGCAGGTGAATAAACACACAGATCTG CATCTGATAGAACTTTGATGGATTTTCAAAAAGCCGTTGACAAGGCTCTGCTATACAGTCTATAAAAATTGTTATTATGGGATTGGAAGAAACACGTGGTCATGAATAGAAAAAAAACAA ACCCAAAGGTAGGAAGGTCAAGGTCATTTCTTAGATGGAGAAGTTGTGAAAGATGTCCTTGGAGATGAGTTTTAGGACCAGCATTACTAAGGCAGGTGGGCAGACAGTGACCTCTCTAGG TGTGTCCACAGAGTTTTTCAGGAGAGAAAACTGCCTGACCTTTGGGACTAAGCTGCGGAATCTTCTTACTAAGCTTGAAGAGTGGAGAGGCGAGAGGTGAGCTACTTTGTGAGCCAAAGC TTATGTGACATGGTTGGGGAAACAGTCCAAACTGTTCTGAGAAGGTGAACTGTTACGACCCAGGACAATTAGAAAAATTCACCCACCATGCCGCACATTACTGGGTAAAAGCAGGGCAGC AGGGAACAAAACTCCAGACTCTTGGGCCGTCCCCATTTGCAACAGCACACATAGTTTCTGGTATATTTGTTGGGAAAGATAAAACTCTAGCAGTTGTTGAGGGGAGGATGTATAAAATGG TCATGGGGATGAAAGGATCTCTGAGACCACAGAGGCTCAGACTCACTGTTAAGAATAGAAAACTGGGTATGCGTTTCATGTAGCCAGCAGAACTGAAGTGTGCTGTGACAAGCCAATGTG AATTTCTACCAAATAGTAGAGCATACCACTTGAAGAAGGAAAGAACCGAAGAGCAAACAAAAGTTCTGCGTAATGAGACTCACCTTTTCTCGCTGAAAGCACTAAGAGGTGGGAGGAGGC CTGCACAGGCTGGAGGAGGGTTTGGGCAGAGCGAAGACCCGGCCAGGACCTTGGTGAGATGGGGTGCCGCCCACCTCCTGCGGATACTCTTGGAGAGTTGTTCCCCCAGGGGGCTCTGCC CCACCTGGAGAAGGAAGCTGCCTGGTGTGGAGTGACTCAAATCAGTATACCTATCTGCTGCACCTTCACTCTCCAGGGTACATGCTTTAAAACCGACCCGCAACAAGTATTGGAAAAATG TATCCAGTCTGAAGATGTTTGTGTATCTGTTTACATCCAGAGTTCTGTGACACATGCCCCCCAGATTGCTGCAAAGATCCCAAGGCATTGATTGCACTTGATTAAGCTTTTGTCTGTAGG TGAAAGAACAAGTTTAGGTCGAGGACTGGCCCCTAGGCTGCTGCTGTGACCCTTGTCCCATGTGGCTTGTTTGCCTGTCCGGGACTCTTCGATGTGCCCAGGGGAGCGTGTTCCTGTCTC TTCCATGCCGTCCTGCAGTCCTTATCTGCTCGCCTGAGGGAAGAGTAGCTGTAGCTACAAGGGAAGCCTGCCTGGAAGAGCCGAGCACCTGTGCCCATGGCTTCTGGTCATGAAACGAGT TAATGATGGCAGAGGAGCTTCCTCCCCACTTCGCAGCGCCACATTATCCATCCTCTGAGATAAGTAGGCTGGTTTAACCATTGGAATGGACCTTTCAGTGGAAACCCTGAGAGTCTGAGA ACCCCCAGACCAACCCTTCCCTCCCTTTCCCCACCTCTTACAGTGTTTGGACAGGAGGGTATGGTGCTGCTCTGTGTAGCAAGTACTTTGGCTTATGAAAGAGGCAGCCACGCATTTTGC ACTAGGAAGAATCAGTAATCACTTTTCAGAAGACTTCTATGGACCACAAATATATTACGGAGGAACAGATTTTGCTAAGACATAATCTAGTTTTATAACTCAATCATGAATGAACCATGT GTGGCAAACTTGCAGTTTAAAGGGGTCCCATCAGTGAAAGAAACTGATTTTTTTTAACGGACTGCTTTTAGTTAAATTGAAGAAAGTCAGCTCTTGTCAAAAGGTCTAAACTTTCCCGCC TCAATCCTAAAAGCATGTCAACAATCCACATCAGATGCCATAAATATGAACTGCAGGATAAAATGGTACAATCTTAGTGAATGGGAATTGGAATCAAAAGAGTTTGCTGTCCTTCTTAGA ATGTTCTAAAATGTCAAGGCAGTTGCTTGTGTTTAACTGTGAACAAATAAAAATTTATTGTTTTGCACTA |
Protein Sequence | >7248 : length: 1164 MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSILSLLGHVIRLQPSWKHKLSQAPLLPSLLKCL KMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDH ELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQISARFPHRSADVTTSPYADTQNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPSTRLITEPPQATLWSPSMVCGMTTPPT SPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPATSPPPAPLCHSDDYVHISLPQATVTPPRKEERMDSARPCLHRQHHLLNDRGSEEPPGSKGSVTLSDLPGFLGDLASEEDSIEKDKEEA AISRELSEITTAEAEPVVPRGGFDSPFYRDSLPGSQRKTHSAASSSQGASVNPEPLHSSLDKLGPDTPKQAFTPIDLPCGSADESPAGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQ PPPYDHLFEVALPKTAHHFVIRKTEELLKKAKGNTEEDGVPSTSPMEVLDRLIQQGADAHSKELNKLPLPSKSVDWTHFGGSPPSDEIRTLRDQLLLLHNQLLYERFKRQQHALRNRRLL RKVIKAAALEEHNAAMKDQLKLQEKDIQMWKVSLQKEQARYNQLQEQRDTMVTKLHSQIRQLQHDREEFYNQSQELQTKLEDCRNMIAELRIELKKANNKVCHTELLLSQVSQKLSNSES VQQQMEFLNRQLLVLGEVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQRLDTSQKRILELESHLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFEL EILDLYGRLEKDGLLKKLEEEKAEAAEAAEERLDCCNDGCSDSMVGHNEEASGHNGETKTPRPSSARGSSGSRGGGGSSSSSSELSTPEKPPHQRAGPFSSRWETTMGEASASIPTTVGS LPSSKSFLGMKARELFRNKSESQCDEDGMTSSLSESLKTELGKDLGVEAKIPLNLDGPHPSPPTPDSVGQLHIMDYNETHHEHS |