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
//