LOCUS       AAM94803.1               579 aa    PRT              HUM 11-MAY-2005
DEFINITION  Homo sapiens folliculin protein.
ACCESSION   AF517523-1
PROTEIN_ID  AAM94803.1
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             Qualifiers
     source          /db_xref="H-InvDB:HIT000081124"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     protein         /gene="BHD"
BEGIN
        1 MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG GIQMNSRMRA
       61 HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK ETSIKYVSHQ HPSHPQLFSI
      121 VRQACVRSLS CEVCPGREGP IFFGDEQHGF VFSHTFFIKD SLARGFQRWY SIITIMMDRI
      181 YLINSWPFLL GKVRGIIDEL QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS
      241 LTSLTSDDNL WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEKLA DLEEESESWD
      301 NSEAEEEEKA PVLPESTEGR ELTQGPAESS SLSGCGSWQP RKLPVFKSLR HMRQVLGAPS
      361 FRMLAWHVLM GNQVIWKSRD VDLVQSAFEV LRTMLPVGCV RIIPYSSQYE EAYRCNFLGL
      421 SPHVQIPPHV LSSEFAVIVE VHAAARSTLH PVGCEDDQSL SKYEFVVTSG SPVAADRVGP
      481 TILNKIEAAL TNQNLSVDVV DQCLVCLKEE WMNKVKVLFK FTKVDSRPKE DTQKLLSILG
      541 ASEEDNVKLL KFWMTGLSKT YKSHLMSTVR SPTASESRN
//