LOCUS AF517523 3674 bp mRNA linear HUM 11-MAY-2005 DEFINITION Homo sapiens folliculin (BHD) mRNA, complete cds. ACCESSION AF517523 VERSION AF517523.1 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 3674) AUTHORS Nickerson,M.L., Warren,M.B., Toro,J.R., Matrosova,V., Glenn,G., Turner,M.L., Duray,P., Merino,M., Choyke,P., Pavlovich,C.P., Sharma,N., Walther,M., Munroe,D., Hill,R., Maher,E., Greenberg,C., Lerman,M.I., Linehan,W.M., Zbar,B. and Schmidt,L.S. TITLE Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome JOURNAL Cancer Cell 2 (2), 157-164 (2002) PUBMED 12204536 REFERENCE 2 (bases 1 to 3674) AUTHORS Schmidt,L.S., Nickerson,M.L., Warren,M.B., Glenn,G.M., Toro,J.R., Merino,M.J., Turner,M.L., Choyke,P.L., Sharma,N., Peterson,J., Morrison,P., Maher,E.R., Walther,M.M., Zbar,B. and Linehan,W.M. TITLE Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome JOURNAL Am. J. Hum. Genet. 76 (6), 1023-1033 (2005) PUBMED 15852235 REFERENCE 3 (bases 1 to 3674) AUTHORS Nickerson,M.L., Schmidt,L.S. and Zbar,B. TITLE Direct Submission JOURNAL Submitted (03-JUN-2002) Laboratory of Immunobiology, National Cancer Institute-Frederick, Bldg. 560, Rm. 12-69, Frederick, MD 21702, USA FEATURES Location/Qualifiers source 1..3674 /db_xref="H-InvDB:HIT000081124" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" gene 1..3674 /gene="BHD" CDS 456..2195 /gene="BHD" /codon_start=1 /product="folliculin" /protein_id="AAM94803.1" /translation="MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQ AEEEEGGIQMNSRMRAHSPAEGASVESSSPGPKKSDMCEGCRSLAAGHPGYISHDKET SIKYVSHQHPSHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKD SLARGFQRWYSIITIMMDRIYLINSWPFLLGKVRGIIDELQGKALKVFEAEQFGCPQR AQRMNTAFTPFLHQRNGNAARSLTSLTSDDNLWACLHTSFAWLLKACGSRLTEKLLEG APTEDTLVQMEKLADLEEESESWDNSEAEEEEKAPVLPESTEGRELTQGPAESSSLSG CGSWQPRKLPVFKSLRHMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLR TMLPVGCVRIIPYSSQYEEAYRCNFLGLSPHVQIPPHVLSSEFAVIVEVHAAARSTLH PVGCEDDQSLSKYEFVVTSGSPVAADRVGPTILNKIEAALTNQNLSVDVVDQCLVCLK EEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKTYKSHLM STVRSPTASESRN" BASE COUNT 790 a 1003 c 1027 g 854 t ORIGIN 1 ggtcgctcct ggttctgcca gctcccctga gagcctgaac ccgggcttga gagcctcgcc 61 accccgggtg acatccctgc cgtgggcttg ggggctctgg gtgtgattcc gccggtccgg 121 gtcccgcagc gaccacctac ccagcgcagt caggggtggg gctgggaccc agagcgggac 181 cccggctgcc gagtccaggt gtcccgcggg cctcgatttg gggagcagaa aacgccaggt 241 cttcaagggt gtctgccacc accatgcctg acccatttgg cagcagcctc gtgtgtggtg 301 gtctggtgtg gacggtggaa gcgtgattct gctgagtgtc agtgtgacca ctcgtgctca 361 gccgtatctc agcaggagga caggtgccgg agcagctcgt gcagctaagc agccaactgc 421 agaaacgtca ggcctgttgc agtctccaag gcaccatgaa tgccatcgtg gctctctgcc 481 acttctgcga gctccacggc ccccgcactc tcttctgcac ggaggtgctg cacgccccac 541 ttcctcaagg ggatgggaat gaggacagtc ctggccaggg tgagcaggcg gaagaagagg 601 aaggtggcat tcagatgaac agtcggatgc gtgcgcacag ccccgcagag ggggccagcg 661 tcgagtccag cagcccgggg cccaaaaagt cggacatgtg cgagggctgc cggtcacttg 721 ctgcagggca cccgggatat atcagccatg ataaagagac ctccattaaa tacgtcagcc 781 accagcaccc cagccacccc cagctcttca gcattgtccg ccaggcctgt gtccggagcc 841 tgagctgtga ggtctgccct ggccgtgaag gccccatctt cttcggagat gagcagcacg 901 gctttgtgtt cagccacacc ttcttcatca aggacagcct ggccaggggc ttccagcgct 961 ggtacagcat catcaccatc atgatggacc ggatctacct catcaactcc tggcccttcc 1021 tgctggggaa ggtccgggga atcatcgatg agctccaggg caaggcgctc aaggtgtttg 1081 aggcagagca gtttggatgc ccacagcgtg ctcagaggat gaacacagcc ttcacgccat 1141 tcctacacca gaggaacggc aacgccgccc gctcgctgac atcgctgaca agtgatgaca 1201 acctgtgggc gtgcctgcac acctcctttg cctggctcct gaaggcgtgt ggcagccggc 1261 tgaccgagaa gctcctggaa ggtgctccga ccgaggatac cttggtccag atggagaagc 1321 tcgctgattt agaagaggaa tcagaaagct gggacaactc tgaggctgaa gaggaggaga 1381 aagcccctgt gttgccagag agtacagaag ggcgggagct gacccagggc ccggcagagt 1441 cctcctctct ctcaggctgt gggagctggc agccccggaa gctgccagtc ttcaagtccc 1501 tccggcacat gaggcaggtc ctgggtgccc cttctttccg catgctggcc tggcacgttc 1561 tcatggggaa ccaggtgatc tggaaaagca gagacgtgga cctcgtccag tcagcttttg 1621 aagtacttcg gaccatgctt cccgtgggct gcgtccgcat catcccatac agcagccagt 1681 acgaggaggc ctatcggtgc aacttcctgg ggctcagccc gcacgtgcag atcccccccc 1741 acgtgctctc ctcagagttt gctgtcatcg tggaggtcca cgcagccgca cgttccaccc 1801 tccaccctgt ggggtgtgag gatgaccagt ctctcagcaa gtacgagttt gtggtgacca 1861 gtgggagccc tgtagctgca gaccgagtgg gccccaccat cctgaataag attgaagcgg 1921 ctctgaccaa ccagaacctg tctgtggatg tggtggacca gtgcctcgtc tgcctcaagg 1981 aggagtggat gaacaaagtg aaggtgcttt ttaagttcac caaggtggac agtcgaccca 2041 aagaggacac acagaagctg ctgagcatcc tgggtgcgtc cgaggaggac aatgtcaagc 2101 tgctgaagtt ctggatgact ggcctgagca agacctacaa gtcacacctc atgtccacgg 2161 tccgcagccc cacagcctcg gagtctcgga actgacccgt cacacacacc tgcctaaaga 2221 cagggatggc tgtccacagg atcctccagc cccgtgagag ggactgtccc ttgagtttct 2281 caactgctgg aaggagctgt gtcccagcaa ggaagggaaa ccatcagggc tgggctcggc 2341 cctgtcaggt ttggggcctg tgtgcttccc agactctccc tccagccgtt ggaatcgctg 2401 aagatggcaa tgaaaggcgg agggatgatg ggctctctct gtgttcaaac tccttggaga 2461 gacgactagg aggacagctt gcctcccagg ccccttgtgg acttagactc aaaacccgca 2521 ggagaaacag gtccgactca gtatgcagtc gcaataacat gtctgctccc gaggttaaca 2581 ttcaagcgtt tctactttga aattcagcaa gagtttctgg gccttatgtt tgagggtacc 2641 ttttgctgca gttgtgaata ttcagtacat tgccagctct tggtcactga gtgattgagt 2701 tagggctccg caagagactt tggggagtga agtggatctc ttcctcatct tctggtcctc 2761 tgaaatgtgt gttctgaagc catggggctc gtcttctggg gtgttcccct gcaggtgctg 2821 gtgaaggtaa cctggggctt aatgatggag tccctgatca tttttgcaca agacaggttg 2881 ctgaggggtc ggcaagcatc tgacttgccc aatcccctgg atatggtgag ccccgccatg 2941 cttttattct gtatcgcttt tgtctttatt gctgctttca acatttacgt ttggttacag 3001 ttaactattt tcggagtgtg gtgattgaag acaatttcat catcccactg tacttttttt 3061 tttgagaggg agtttcactc ttgttgccca ggctggagtg caatggcacg atcttggctc 3121 actgcaacct ctgcctcctg ggttcaagca attctcctgc ctcagcctcc agagtagctg 3181 gaactacagg tgcccgccac tatgcccagc taatttttgt attttttagt agagacgggg 3241 tttcaccgtg ttggccgggc tggtctcaaa ctcctgacct caggtgatcc acccacctca 3301 gcctcccaaa gtgctgggat tacaagcgtg agccactgtg cctggccctt tttttttttt 3361 tttttttttt ttttaaagag atggcatctt gctatgtcgt ccaggctggt cttgaactcc 3421 tgagttcaag cagtcctcct gcttcaacat acagctacag gtacccccca ctatacattt 3481 ttaataagga ttcatggctc agagggattt tctgatggtt ttgctgattt gtttctagtt 3541 tttttgtgtt tatatttaac atgaagacca agtttatata actaggtatc tgtataatgc 3601 aacaacattg gaacacaata aagatgtatt tttgtaaaaa aaaaaaaaaa aaaaaaaaaa 3661 aaaaaaaaaa aaaa //