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 //