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"
                     /db_xref="GI:22255880"
                     /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
//