Entry HUMAN29342 (TSC1_HUMAN)

E Homo sapiens


General Information

Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Organism
HUMAN - Homo sapiens (Taxon-ID: 9606)
Locus
9join(complement(132928767..132928872), complement(132927201..132927304), complement(132925587..132925739), complement(132923348..132923492), complement(132921819..132921973), complement(132921363..132921436), complement(132912282..132912457), complement(132911453..132911568), complement(132911002..132911113), complement(132910571..132910692), complement(132907301..132907370), complement(132906731..132906835), complement(132905581..132906139), complement(132904411..132904454), complement(132903651..132903817), complement(132902605..132902787), complement(132901589..132901699), complement(132900715..132900837), complement(132897423..132897610), complement(132897184..132897345), complement(132896235..132896754))
Number of exons
21

IDs and Cross-references

loading xrefs...

Domain Architecture

Gene Ontology

loading GO annotations...

Protein Sequence

Download: Fasta
MAQQANVGEL LAMLDSPMLG VRDDVTAVFK ENLNSDRGPM LVNTLVDYYL ETSSQPALHI    60
LTTLQEPHDK HLLDRINEYV GKAATRLSIL SLLGHVIRLQ PSWKHKLSQA PLLPSLLKCL   120
KMDTDVVVLT TGVLVLITML PMIPQSGKQH LLDFFDIFGR LSSWCLKKPG HVAEVYLVHL   180
HASVYALFHR LYGMYPCNFV SFLRSHYSMK ENLETFEEVV KPMMEHVRIH PELVTGSKDH   240
ELDPRRWKRL ETHDVVIECA KISLDPTEAS YEDGYSVSHQ ISARFPHRSA DVTTSPYADT   300
QNSYGCATST PYSTSRLMLL NMPGQLPQTL SSPSTRLITE PPQATLWSPS MVCGMTTPPT   360
SPGNVPPDLS HPYSKVFGTT AGGKGTPLGT PATSPPPAPL CHSDDYVHIS LPQATVTPPR   420
KEERMDSARP CLHRQHHLLN DRGSEEPPGS KGSVTLSDLP GFLGDLASEE DSIEKDKEEA   480
AISRELSEIT TAEAEPVVPR GGFDSPFYRD SLPGSQRKTH SAASSSQGAS VNPEPLHSSL   540
DKLGPDTPKQ AFTPIDLPCG SADESPAGDR ECQTSLETSI FTPSPCKIPP PTRVGFGSGQ   600
PPPYDHLFEV ALPKTAHHFV IRKTEELLKK AKGNTEEDGV PSTSPMEVLD RLIQQGADAH   660
SKELNKLPLP SKSVDWTHFG GSPPSDEIRT LRDQLLLLHN QLLYERFKRQ QHALRNRRLL   720
RKVIKAAALE EHNAAMKDQL KLQEKDIQMW KVSLQKEQAR YNQLQEQRDT MVTKLHSQIR   780
QLQHDREEFY NQSQELQTKL EDCRNMIAEL RIELKKANNK VCHTELLLSQ VSQKLSNSES   840
VQQQMEFLNR QLLVLGEVNE LYLEQLQNKH SDTTKEVEMM KAAYRKELEK NRSHVLQQTQ   900
RLDTSQKRIL ELESHLAKKD HLLLEQKKYL EDVKLQARGQ LQAAESRYEA QKRITQVFEL   960
EILDLYGRLE KDGLLKKLEE EKAEAAEAAE ERLDCCNDGC SDSMVGHNEE ASGHNGETKT  1020
PRPSSARGSS GSRGGGGSSS SSSELSTPEK PPHQRAGPFS SRWETTMGEA SASIPTTVGS  1080
LPSSKSFLGM KARELFRNKS ESQCDEDGMT SSLSESLKTE LGKDLGVEAK IPLNLDGPHP  1140
SPPTPDSVGQ LHIMDYNETH HEHS                                         1164

Coding Sequence

Download: Fasta
ATGGCCCAAC AAGCAAATGT CGGGGAGCTT CTTGCCATGC TGGACTCCCC CATGCTGGGT    60
GTGCGGGACG ACGTGACAGC TGTCTTTAAA GAGAACCTCA ATTCTGACCG TGGCCCTATG   120
CTTGTAAACA CCTTGGTGGA TTATTACCTG GAAACCAGCT CTCAGCCGGC ATTGCACATC   180
CTGACCACCT TGCAAGAGCC ACATGACAAG CACCTCTTGG ACAGGATTAA CGAATATGTG   240
GGCAAAGCCG CCACTCGTTT ATCCATCCTC TCGTTACTGG GTCATGTCAT AAGACTGCAG   300
CCATCTTGGA AGCATAAGCT CTCTCAAGCA CCTCTTTTGC CTTCTTTACT AAAATGTCTC   360
AAGATGGACA CTGACGTCGT TGTCCTCACA ACAGGCGTCT TGGTGTTGAT AACCATGCTA   420
CCAATGATTC CACAGTCTGG GAAACAGCAT CTTCTTGATT TCTTTGACAT TTTTGGCCGT   480
CTGTCATCAT GGTGCCTGAA GAAACCAGGC CACGTGGCGG AAGTCTATCT CGTCCATCTC   540
CATGCCAGTG TGTACGCACT CTTTCATCGC CTTTATGGAA TGTACCCTTG CAACTTCGTC   600
TCCTTTTTGC GTTCTCATTA CAGTATGAAA GAAAACCTGG AGACTTTTGA AGAAGTGGTC   660
AAGCCAATGA TGGAGCATGT GCGAATTCAT CCGGAATTAG TGACTGGATC CAAGGACCAT   720
GAACTGGACC CTCGAAGGTG GAAGAGATTA GAAACTCATG ATGTTGTGAT CGAGTGTGCC   780
AAAATCTCTC TGGATCCCAC AGAAGCCTCA TATGAAGATG GCTATTCTGT GTCTCACCAA   840
ATCTCAGCCC GCTTTCCTCA TCGTTCAGCC GATGTCACCA CCAGCCCTTA TGCTGACACA   900
CAGAATAGCT ATGGGTGTGC TACTTCTACC CCTTACTCCA CGTCTCGGCT GATGTTGTTA   960
AATATGCCAG GGCAGCTACC TCAGACTCTG AGTTCCCCAT CGACACGGCT GATAACTGAA  1020
CCACCACAAG CTACTCTTTG GAGCCCATCT ATGGTTTGTG GTATGACCAC TCCTCCAACT  1080
TCTCCTGGAA ATGTCCCACC TGATCTGTCA CACCCTTACA GTAAAGTCTT TGGTACAACT  1140
GCAGGTGGAA AAGGAACTCC TCTGGGAACC CCAGCAACCT CTCCTCCTCC AGCCCCACTC  1200
TGTCATTCGG ATGACTACGT GCACATTTCA CTCCCCCAGG CCACAGTCAC ACCCCCCAGG  1260
AAGGAAGAGA GAATGGATTC TGCAAGACCA TGTCTACACA GACAACACCA TCTTCTGAAT  1320
GACAGAGGAT CAGAAGAGCC ACCTGGCAGC AAAGGTTCTG TCACTCTAAG TGATCTTCCA  1380
GGGTTTTTAG GTGATCTGGC CTCTGAAGAA GATAGTATTG AAAAAGATAA AGAAGAAGCT  1440
GCAATATCTA GAGAACTTTC TGAGATCACC ACAGCAGAGG CAGAGCCTGT GGTTCCTCGA  1500
GGAGGCTTTG ACTCTCCCTT TTACCGAGAC AGTCTCCCAG GTTCTCAGCG GAAGACCCAC  1560
TCGGCAGCCT CCAGTTCTCA GGGCGCCAGC GTGAACCCTG AGCCTTTACA CTCCTCCCTG  1620
GACAAGCTTG GGCCTGACAC ACCAAAGCAA GCCTTTACTC CCATAGACCT GCCCTGCGGC  1680
AGTGCTGATG AAAGCCCTGC GGGAGACAGG GAATGCCAGA CTTCTTTGGA GACCAGTATC  1740
TTCACTCCCA GTCCTTGTAA AATTCCACCT CCGACGAGAG TGGGCTTTGG AAGCGGGCAG  1800
CCTCCCCCGT ATGATCATCT TTTTGAGGTG GCATTGCCAA AGACAGCCCA TCATTTTGTC  1860
ATCAGGAAGA CTGAGGAGCT GTTAAAGAAA GCAAAAGGAA ACACAGAGGA AGATGGTGTG  1920
CCCTCTACCT CCCCAATGGA AGTGCTGGAC AGACTGATAC AGCAGGGAGC AGACGCGCAC  1980
AGCAAGGAGC TGAACAAGTT GCCTTTACCC AGCAAGTCTG TCGACTGGAC CCACTTTGGA  2040
GGCTCTCCTC CTTCAGATGA GATCCGCACC CTCCGAGACC AGTTGCTTTT ACTGCACAAC  2100
CAGTTACTCT ATGAGCGTTT TAAGAGGCAG CAGCATGCCC TCCGGAACAG GCGGCTCCTC  2160
CGCAAGGTGA TCAAAGCAGC AGCTCTGGAG GAACATAATG CTGCCATGAA AGATCAGTTG  2220
AAGTTACAAG AGAAGGACAT CCAGATGTGG AAGGTTAGTC TGCAGAAAGA ACAAGCTAGA  2280
TACAATCAGC TCCAGGAGCA GCGTGACACT ATGGTAACCA AGCTCCACAG CCAGATCAGA  2340
CAGCTGCAGC ATGACCGAGA GGAATTCTAC AACCAGAGCC AGGAATTACA GACGAAGCTG  2400
GAGGACTGCA GGAACATGAT TGCGGAGCTG CGGATAGAAC TGAAGAAGGC CAACAACAAG  2460
GTGTGTCACA CTGAGCTGCT GCTCAGTCAG GTTTCCCAAA AGCTCTCAAA CAGTGAGTCG  2520
GTCCAGCAGC AGATGGAGTT CTTGAACAGG CAGCTGTTGG TTCTTGGGGA GGTCAACGAG  2580
CTCTATTTGG AACAACTGCA GAACAAGCAC TCAGATACCA CAAAGGAAGT AGAAATGATG  2640
AAAGCCGCCT ATCGGAAAGA GCTAGAAAAA AACAGAAGCC ATGTTCTCCA GCAGACTCAG  2700
AGGCTTGATA CCTCCCAAAA ACGGATTTTG GAACTGGAAT CTCACCTGGC CAAGAAAGAC  2760
CACCTTCTTT TGGAACAGAA GAAATATCTA GAGGATGTCA AACTCCAGGC AAGAGGACAG  2820
CTGCAGGCCG CAGAGAGCAG GTATGAGGCT CAGAAAAGGA TAACCCAGGT GTTTGAATTG  2880
GAGATCTTAG ATTTATATGG CAGGTTGGAG AAAGATGGCC TCCTGAAAAA ACTTGAAGAA  2940
GAAAAAGCAG AAGCAGCTGA AGCAGCAGAA GAAAGGCTTG ACTGTTGTAA TGACGGGTGC  3000
TCAGATTCCA TGGTAGGGCA CAATGAAGAG GCATCTGGCC ACAACGGTGA GACCAAGACC  3060
CCCAGGCCCA GCAGCGCCCG GGGCAGTAGT GGAAGCAGAG GTGGTGGAGG CAGCAGCAGC  3120
AGCAGCAGCG AGCTTTCTAC CCCAGAGAAA CCCCCACACC AGAGGGCAGG CCCATTCAGC  3180
AGTCGGTGGG AGACGACTAT GGGAGAAGCG TCTGCCAGCA TCCCCACCAC TGTGGGCTCA  3240
CTTCCCAGTT CAAAAAGCTT CCTGGGTATG AAGGCTCGAG AGTTATTTCG TAATAAGAGC  3300
GAGAGCCAGT GTGATGAGGA CGGCATGACC AGTAGCCTTT CTGAGAGCCT AAAGACAGAA  3360
CTGGGCAAAG ACTTGGGTGT GGAAGCCAAG ATTCCCCTGA ACCTAGATGG CCCTCACCCG  3420
TCTCCCCCGA CCCCGGACAG TGTTGGACAG CTACATATCA TGGACTACAA TGAGACTCAT  3480
CATGAACACA GCTAA                                                   3495