LOCUS AF013168 8600 bp mRNA linear HUM 17-AUG-1997
DEFINITION Homo sapiens hamartin (TSC1) mRNA, complete cds.
ACCESSION AF013168
VERSION AF013168.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 8600)
AUTHORS van Slegtenhorst,M., de Hoogt,R., Hermans,C., Nellist,M.,
Janssen,B., Verhoef,S., Lindhout,D., van den Ouweland,A.,
Halley,D., Young,J., Burley,M., Jeremiah,S., Woodward,K.,
Nahmias,J., Fox,M., Ekong,R., Osborne,J., Wolfe,J., Povey,S.,
Snell,R.G., Cheadle,J.P., Jones,A.C., Tachataki,M., Ravine,D.,
Sampson,J.R., Reeve,M.P., Richardson,P., Wilmer,F., Munro,C.,
Hawkins,T.L., Sepp,T., Ali,J.B.M., Ward,S., Green,A.J.,
Yates,J.R.W., Kwiatkowska,J., Henske,E.P., Short,M.P., Haines,J.H.,
Jozwiak,S. and Kwiatkowski,D.J.
TITLE Identification of the tuberous sclerosis gene TSC1 on chromosome
9q34
JOURNAL Science 277 (5327), 805-808 (1997)
PUBMED 9242607
REFERENCE 2 (bases 1 to 8600)
AUTHORS van Slegtenhorst,M., Young,J., Halley,D., Povey,S., Sampson,J.R.
and Kwiatkowski,D.J.
TITLE Direct Submission
JOURNAL Submitted (09-JUL-1997) Clinical Genetics, Erasmus University and
University Hospital, Dr Molewaterplein 50, Rotterdam 3015GE, The
Netherlands
FEATURES Location/Qualifiers
source 1..8600
/db_xref="H-InvDB:HIT000062252"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q34"
gene 1..8600
/gene="TSC1"
CDS 222..3716
/gene="TSC1"
/function="tumor suppressor protein"
/note="tuberous sclerosis complex 1 protein"
/codon_start=1
/product="hamartin"
/protein_id="AAC51674.1"
/translation="MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNT
LVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSILSLLGHVIRLQPS
WKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGR
LSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEE
VVKPMMEHVRIHPELVTGSKDHELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYS
VSHQISARFPHRSADVTTSPYADTQNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPS
TRLITEPPQATLWSPSMVCGMTTPPTSPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPA
TSPPPAPLCHSDDYVHISLPQATVTPPRKEERMDSARPCLHRQHHLLNDRGSEEPPGS
KGSVTLSDLPGFLGDLASEEDSIEKDKEEAAISRELSEITTAEAEPVVPRGGFDSPFY
RDSLPGSQRKTHSAASSSQGASVNPEPLHSSLDKLGPDTPKQAFTPIDLPCGSADESP
AGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQPPPYDHLFEVALPKTAHHFVIRKT
EELLKKAKGNTEEDGVPSTSPMEVLDRLIQQGADAHSKELNKLPLPSKSVDWTHFGGS
PPSDEIRTLRDQLLLLHNQLLYERFKRQQHALRNRRLLRKVIKAAALEEHNAAMKDQL
KLQEKDIQMWKVSLQKEQARYNQLQEQRDTMVTKLHSQIRQLQHDREEFYNQSQELQT
KLEDCRNMIAELRIELKKANNKVCHTELLLSQVSQKLSNSESVQQQMEFLNRQLLVLG
EVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQRLDTSQKRILELES
HLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFELEILDLYGRLEKD
GLLKKLEEEKAEAAEAAEERLDCCNDGCSDSMVGHNEEASGHNGETKTPRPSSARGSS
GSRGGGGSSSSSSELSTPEKPPHQRAGPFSSRWETTMGEASASIPTTVGSLPSSKSFL
GMKARELFRNKSESQCDEDGMTSSLSESLKTELGKDLGVEAKIPLNLDGPHPSPPTPD
SVGQLHIMDYNETHHEHS"
misc_feature 2409..3116
/gene="TSC1"
/note="encodes a coiled-coil domain"
BASE COUNT 2365 a 2010 c 2137 g 2087 t
ORIGIN
1 gtgctgtacg tccaagatgg cggcgcctgt aggctggagg gactgtgagg taaacagctg
61 agggggagga gacggtggtg accatgaaag acaccaggtt gacagcactg gaaactgaag
121 taccagttgt cgctagaaca gtttggtagt ggccccaatg aagaaccttc agaacctgta
181 gcacacgtcc tggagccagc acagcgcctt cgagcgagag aatggcccaa caagcaaatg
241 tcggggagct tcttgccatg ctggactccc ccatgctggg tgtgcgggac gacgtgacag
301 ctgtctttaa agagaacctc aattctgacc gtggccctat gcttgtaaac accttggtgg
361 attattacct ggaaaccagc tctcagccgg cattgcacat cctgaccacc ttgcaagagc
421 cacatgacaa gcacctcttg gacaggatta acgaatatgt gggcaaagcc gccactcgtt
481 tatccatcct ctcgttactg ggtcatgtca taagactgca gccatcttgg aagcataagc
541 tctctcaagc acctcttttg ccttctttac taaaatgtct caagatggac actgacgtcg
601 ttgtcctcac aacaggcgtc ttggtgttga taaccatgct accaatgatt ccacagtctg
661 ggaaacagca tcttcttgat ttctttgaca tttttggccg tctgtcatca tggtgcctga
721 agaaaccagg ccacgtggcg gaagtctatc tcgtccatct ccatgccagt gtgtacgcac
781 tctttcatcg cctttatgga atgtaccctt gcaacttcgt ctcctttttg cgttctcatt
841 acagtatgaa agaaaacctg gagacttttg aagaagtggt caagccaatg atggagcatg
901 tgcgaattca tccggaatta gtgactggat ccaaggacca tgaactggac cctcgaaggt
961 ggaagagatt agaaactcat gatgttgtga tcgagtgtgc caaaatctct ctggatccca
1021 cagaagcctc atatgaagat ggctattctg tgtctcacca aatctcagcc cgctttcctc
1081 atcgttcagc cgatgtcacc accagccctt atgctgacac acagaatagc tatgggtgtg
1141 ctacttctac cccttactcc acgtctcggc tgatgttgtt aaatatgcca gggcagctac
1201 ctcagactct gagttcccca tcgacacggc tgataactga accaccacaa gctactcttt
1261 ggagcccatc tatggtttgt ggtatgacca ctcctccaac ttctcctgga aatgtcccac
1321 ctgatctgtc acacccttac agtaaagtct ttggtacaac tgcaggtgga aaaggaactc
1381 ctctgggaac cccagcaacc tctcctcctc cagccccact ctgtcattcg gatgactacg
1441 tgcacatttc actcccccag gccacagtca caccccccag gaaggaagag agaatggatt
1501 ctgcaagacc atgtctacac agacaacacc atcttctgaa tgacagagga tcagaagagc
1561 cacctggcag caaaggttct gtcactctaa gtgatcttcc agggttttta ggtgatctgg
1621 cctctgaaga agatagtatt gaaaaagata aagaagaagc tgcaatatct agagaacttt
1681 ctgagatcac cacagcagag gcagagcctg tggttcctcg aggaggcttt gactctccct
1741 tttaccgaga cagtctccca ggttctcagc ggaagaccca ctcggcagcc tccagttctc
1801 agggcgccag cgtgaaccct gagcctttac actcctccct ggacaagctt gggcctgaca
1861 caccaaagca agcctttact cccatagacc tgccctgcgg cagtgctgat gaaagccctg
1921 cgggagacag ggaatgccag acttctttgg agaccagtat cttcactccc agtccttgta
1981 aaattccacc tccgacgaga gtgggctttg gaagcgggca gcctcccccg tatgatcatc
2041 tttttgaggt ggcattgcca aagacagccc atcattttgt catcaggaag actgaggagc
2101 tgttaaagaa agcaaaagga aacacagagg aagatggtgt gccctctacc tccccaatgg
2161 aagtgctgga cagactgata cagcagggag cagacgcgca cagcaaggag ctgaacaagt
2221 tgcctttacc cagcaagtct gtcgactgga cccactttgg aggctctcct ccttcagatg
2281 agatccgcac cctccgagac cagttgcttt tactgcacaa ccagttactc tatgagcgtt
2341 ttaagaggca gcagcatgcc ctccggaaca ggcggctcct ccgcaaggtg atcaaagcag
2401 cagctctgga ggaacataat gctgccatga aagatcagtt gaagttacaa gagaaggaca
2461 tccagatgtg gaaggttagt ctgcagaaag aacaagctag atacaatcag ctccaggagc
2521 agcgtgacac tatggtaacc aagctccaca gccagatcag acagctgcag catgaccgag
2581 aggaattcta caaccagagc caggaattac agacgaagct ggaggactgc aggaacatga
2641 ttgcggagct gcggatagaa ctgaagaagg ccaacaacaa ggtgtgtcac actgagctgc
2701 tgctcagtca ggtttcccaa aagctctcaa acagtgagtc ggtccagcag cagatggagt
2761 tcttgaacag gcagctgttg gttcttgggg aggtcaacga gctctatttg gaacaactgc
2821 agaacaagca ctcagatacc acaaaggaag tagaaatgat gaaagccgcc tatcggaaag
2881 agctagaaaa aaacagaagc catgttctcc agcagactca gaggcttgat acctcccaaa
2941 aacggatttt ggaactggaa tctcacctgg ccaagaaaga ccaccttctt ttggaacaga
3001 agaaatatct agaggatgtc aaactccagg caagaggaca gctgcaggcc gcagagagca
3061 ggtatgaggc tcagaaaagg ataacccagg tgtttgaatt ggagatctta gatttatatg
3121 gcaggttgga gaaagatggc ctcctgaaaa aacttgaaga agaaaaagca gaagcagctg
3181 aagcagcaga agaaaggctt gactgttgta atgacgggtg ctcagattcc atggtagggc
3241 acaatgaaga ggcatctggc cacaacggtg agaccaagac ccccaggccc agcagcgccc
3301 ggggcagtag tggaagcaga ggtggtggag gcagcagcag cagcagcagc gagctttcta
3361 ccccagagaa acccccacac cagagggcag gcccattcag cagtcggtgg gagacgacta
3421 tgggagaagc gtctgccagc atccccacca ctgtgggctc acttcccagt tcaaaaagct
3481 tcctgggtat gaaggctcga gagttatttc gtaataagag cgagagccag tgtgatgagg
3541 acggcatgac cagtagcctt tctgagagcc taaagacaga actgggcaaa gacttgggtg
3601 tggaagccaa gattcccctg aacctagatg gccctcaccc gtctcccccg accccggaca
3661 gtgttggaca gctacatatc atggactaca atgagactca tcatgaacac agctaaggaa
3721 tgatggtcaa tcagtgttaa cttgcatatt gttggcacag aacaggaggt gtgaatgcac
3781 gtttcaaagc tttcctgttt ccagggtctg agtgcaagtt catgtgtgga aatgggacgg
3841 aggtcctttg gacagctgac tgaatgcaga acggtttttg gatctggcat tgaaatgcct
3901 cttgaccttc ccctccaccc gccctaaccc cctctcattt acctcgcagt gtgttctaat
3961 ccaagggcca gttggtgttc ctcagtagct ttactttctt ccttcccccc caaatggttg
4021 cgtcctttga acctgtgcaa tatgaggcca aatttaatct ttgagtctaa cacaccactt
4081 tctgctttcc cgaagttcag ataactgggt tggctctcaa ttagaccagg tagtttgttg
4141 cattgcaggt aagtctggtt ttgtcccttc caggaggaca tagcctgcaa agctggttgt
4201 ctttacatga aagcgtttac atgagacttt ccgactgctt ttttgattct gaagttcagc
4261 atctaaagca gcaggtctag aagaacaacg gtttattcat acttgcattc ttttggcagt
4321 tctgataagc ttcctagaaa gttctgtgta aacagaagcc tgtttcagaa atctggagct
4381 ggcactgtgg agaccacaca ccctttggga aagctcttgt ctcttcttcc cccactacct
4441 cttatttatt tggtgtttgc ttgaatgctg gtactattgt gaccacaggc tggtgtgtag
4501 gtggtaaaac ctgttctcca taggagggaa ggagcagtca ctgggagagg ttacccgaga
4561 agcacttgag catgaggaac tgcaccttta ggccatctca gcttgctggg ccttttgtta
4621 aacccttctg tctactggcc tccctttgtg tgcatacgcc tcttgttcat gtcagcttat
4681 atgtgacact gcagcagaaa ggctctgaag gtccaaagag tttctgcaaa gtgtatgtga
4741 ccatcatttc ccaggccatt agggttgcct cactgtagca ggttctaggc taccagaaga
4801 ggggcagctt tttcatacca attccaactt tcaggggctg actctccagg gagctgatgt
4861 catcacactc tccatgttag taatggcaga gcagtctaaa cagagtccgg gagaatgctg
4921 gcaaaggctg gctgtgtata cccactaggc tgccccacgt gctcccgaga gatgacacta
4981 gtcagaaaag tggcagtggc agagaatcca aactcaacaa gtgctcctga aagaaatgct
5041 agaagcctaa gaactgtggt ctggtgttcc agctgaggca gggggatttg gtaggaagga
5101 gccagtgaac ttggctttcc tgtttctatc tttcattaaa aagaatagaa ggattcagtc
5161 ataaagaggt aaaaaactgt cacggtacga aatcttagtg cctacggagg cctcgagcag
5221 aaagaatgaa agtctttttt tttttttttt ttttttagca tggcaataaa tattctagca
5281 tccctaacta aaggggacta gacagttaga gactctgtca ccctagctat accagcagaa
5341 aacctgttca ggcaggcttt ctgggtgtga ctgattccca gcctgtggca gggcgtggtc
5401 ccaactactc agcctagcac aggctggcag ttggtactga attgtcagat gtggagtatt
5461 agtgacacca cacatttaat tcagctttgt ccaaaggaaa gcttaaaacc caatacagtc
5521 tagtttcctg gttccgtttt agaaaaggaa aacgtgaaca aacttagaaa gggaaggaaa
5581 tcccatcagt gaatcctgaa actggtttta agtgctttcc ttctcctcat gcccaagaga
5641 tctgtgccat agaacaagat accaggcact taaagccttt tcctgaattg gaaaggaaaa
5701 gaggcccaag tgcaaaagaa aaaacatttt agaaacggac agcttataaa aataaaggga
5761 agaaaggagg cagcatggag agaggcctgt gctagaagct ccatggacgt gtctgcacag
5821 ggtcctcagc tcatccatgc ggcctgggtg tccttttact cagctttata acaaatgtgg
5881 ctccaagctc aggtgccttt gagttctagg aggctgtggg ttttattcaa ctacggttgg
5941 gagaatgaga cctggagtca tgttgaaggt gcccaaccta aaaatgtagg ctttcatgtt
6001 gcaaagaact ccagagtcag tagttaggtt tggtttggtt ttggacatga taaacctgcc
6061 aagagtcaac aggtcacttg atcatgctgc agtgggtagt tctaaggatg gaaaggtgac
6121 agtattactc tcgagaggca attcagtcct gggcaaaggt attagtacaa taagcgttaa
6181 gggcagagtc taccttgaaa ccaattaagc agcttggtat tcataaatat tgggattgga
6241 tggcctccat ccagaaatca ctatgggtga gcatacctgt ctcagctgtt tggccaatgt
6301 gcataaccta ctcggatccc cacctgacac taaccagagt cagcacaggc cccgaggagc
6361 ccgaagttct ctgctgtgca gcatggaatt cctttaaaaa ggtgcactac agttttagcg
6421 gggaggggga taggaagacg cagagcaaat gagctccgga gtccctgcag gtgaataaac
6481 acacagatct gcatctgata gaactttgat ggattttcaa aaagccgttg acaaggctct
6541 gctatacagt ctataaaaat tgttattatg ggattggaag aaacacatgg tcatgaatag
6601 aaaaaaaaca aacccaaagg taggaaggtc aaggtcattt cttagatgga gaagttgtga
6661 aagatgtcct tggagatgag ttttaggacc agcattacta aggcaggtgg gcagacagtg
6721 acctctctag gtgtgtccac agagtttttc aggagagaaa actgcctgac ctttgggact
6781 aagctgcgga atcttcttac taagcttgaa gagtggagag gcgagaggtg agctactttg
6841 tgagccaaag cttatgtgac atggttgggg aaacagtcca aactgttctg agaaggtgaa
6901 ctgttacgac ccaggacaat tagaaaaatt cacccaccat gccgcacatt actgggtaaa
6961 agcagggcag cagggaacaa aactccagac tcttgggccg tccccatttg caacagcaca
7021 catagtttct ggtatatttg ttgggaaaga taaaactcta gcagttgttg aggggaggat
7081 gtataaaatg gtcatgggga tgaaaggatc tctgagacca cagaggctca gactcactgt
7141 taagaataga aaactgggta tgcgtttcat gtagccagca gaactgaagt gtgctgtgac
7201 aagccaatgt gaatttctac caaatagtag agcataccac ttgaagaagg aaagaaccga
7261 agagcaaaca aaagttctgc gtaatgagac tcaccttttc tcgctgaaag cactaagagg
7321 tgggaggagg cctgcacagg ctggaggagg gtttgggcag agcgaagacc cggccaggac
7381 cttggtgaga tggagtgccg cccacctcct gcggatactc ttggagagtt gttcccccag
7441 gggnctctgc cccacctgga gaaggaagct gcctggtgtg gagtgactca aatcagtata
7501 cctatctgct gcaccttcac tctccagggt acatgcttta aaaccgaccc gcaacaagta
7561 ttggaaaaat gtatccagtc tgaagatgtt tgtgtatctg tttacatcca gagttctgtg
7621 acacatgccc cccagattgc tgcaaagatc ccaaggcatt gattgcactt gattaagctt
7681 ttgtctgtag gtgaaagaac aagtttaggt cgaggactgg cccctaggct gctgctgtga
7741 cccttgtccc atgtggcttg tttgcctgtc cgggactctt cgatgtgccc aggggagcgt
7801 gttcctgtct cttccatgcc gtcctgcagt ccttatctgc tcgcctgagg gaagagtagc
7861 tgtagctaca agggaagcct gcctggaaga gccgagcacc tgtgcccatg gcttctggtc
7921 atgaaacgag ttaatgatgg cagaggagct tcctccccac ttcgcagcgc cacattatcc
7981 atcctctgag ataagtaggc tggtttaacc attggaatgg acctttcagt ggaaaccctg
8041 agagtctgag aacccccaga ccaacccttc cctccctttc cccacctctt acagtgtttg
8101 gacaggaggg tatggtgctg ctctgtgtag caagtacttt ggcttatgaa agaggcagcc
8161 acgcattttg cactaggaag aatcagtaat cacttttcag aagacttcta tggaccacaa
8221 atatattacg gaggaacaga ttttgctaag acataatcta gttttataac tcaatcatga
8281 atgaaccatg tgtggcaaac ttgcagttta aaggggtccc atcagtgaaa gaaactgatt
8341 ttttttaacg gactgctttt agttaaattg aagaaagtca gctcttgtca aaaggtctaa
8401 actttcccgc ctcaatccta aaagcatgtc aacaatccac atcagatgcc ataaatatga
8461 actgcaggat aaaatggtac aatcttagtg aatgggaatt ggaatcaaaa gagtttgctg
8521 tccttcttag aatgttctaa aatgtcaagg cagttgcttg tgtttaactg tgaacaaata
8581 aaaatttatt gttttgcact
//