LOCUS       NM_144997               3667 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.
ACCESSION   NM_144997
VERSION     NM_144997.7
KEYWORDS    RefSeq; MANE Select.
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 3667)
  AUTHORS   Mete,O. and Juhlin,C.C.
  TITLE     Progress in Adrenal Cortical Neoplasms: From Predictive
            Histomorphology to FLCN-Driven Germline Pathogenesis and the
            Prognostic Performance of Multiparameter Scoring Systems in
            Pediatric Adrenal Cortical Neoplasms
  JOURNAL   Endocr Pathol 34 (2), 176-178 (2023)
   PUBMED   37219723
  REMARK    GeneRIF: Progress in Adrenal Cortical Neoplasms: From Predictive
            Histomorphology to FLCN-Driven Germline Pathogenesis and the
            Prognostic Performance of Multiparameter Scoring Systems in
            Pediatric Adrenal Cortical Neoplasms.
REFERENCE   2  (bases 1 to 3667)
  AUTHORS   Wang,G., Chen,L., Lei,X., Qin,S., Geng,H., Zheng,Y., Xia,C.,
            Yao,J., Meng,T. and Deng,L.
  TITLE     Role of FLCN Phosphorylation in Insulin-Mediated mTORC1 Activation
            and Tumorigenesis
  JOURNAL   Adv Sci (Weinh) 10 (17), e2206826 (2023)
   PUBMED   37083230
  REMARK    GeneRIF: Role of FLCN Phosphorylation in Insulin-Mediated mTORC1
            Activation and Tumorigenesis.
REFERENCE   3  (bases 1 to 3667)
  AUTHORS   Ishii,Y., Yamaji,T., Sekizuka,T., Homma,Y., Mori,S., Takeuchi,T.
            and Kukimoto,I.
  TITLE     Folliculin Prevents Lysosomal Degradation of Human Papillomavirus
            To Support Infectious Cell Entry
  JOURNAL   J Virol 97 (5), e0005623 (2023)
   PUBMED   37167561
  REMARK    GeneRIF: Folliculin Prevents Lysosomal Degradation of Human
            Papillomavirus To Support Infectious Cell Entry.
REFERENCE   4  (bases 1 to 3667)
  AUTHORS   Wang,Y., Cai,M., Jiang,X., Lv,G., Hu,D., Zhang,G., Liu,J., Wei,W.,
            Xiao,J., Shen,B., Ryu,J.H. and Hu,X.
  TITLE     Exons 1-3 deletion in FLCN is associated with increased risk of
            pneumothorax in Chinese patients with Birt-Hogg-Dube syndrome
  JOURNAL   Orphanet J Rare Dis 18 (1), 115 (2023)
   PUBMED   37170274
  REMARK    GeneRIF: Exons 1-3 deletion in FLCN is associated with increased
            risk of pneumothorax in Chinese patients with Birt-Hogg-Dube
            syndrome.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3667)
  AUTHORS   Khoo,S.K., Giraud,S., Kahnoski,K., Chen,J., Motorna,O.,
            Nickolov,R., Binet,O., Lambert,D., Friedel,J., Levy,R.,
            Ferlicot,S., Wolkenstein,P., Hammel,P., Bergerheim,U.,
            Hedblad,M.A., Bradley,M., Teh,B.T., Nordenskjold,M. and Richard,S.
  TITLE     Clinical and genetic studies of Birt-Hogg-Dube syndrome
  JOURNAL   J Med Genet 39 (12), 906-912 (2002)
   PUBMED   12471204
  REMARK    GeneRIF: Clinical and genetic studies of four sporadic BHD cases
            and four families with a total of 23 affected subjects
            Erratum:[J Med Genet. 2003 Feb;40(2):150.]
REFERENCE   6  (bases 1 to 3667)
  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
  REMARK    GeneRIF: Mutations lead to kidney tumors, lung wall defects, and
            benign tumors of the hair follicle in patients with the
            Birt-Hogg-Dube syndrome
REFERENCE   7  (bases 1 to 3667)
  AUTHORS   Schmidt,L.S., Warren,M.B., Nickerson,M.L., Weirich,G.,
            Matrosova,V., Toro,J.R., Turner,M.L., Duray,P., Merino,M.,
            Hewitt,S., Pavlovich,C.P., Glenn,G., Greenberg,C.R., Linehan,W.M.
            and Zbar,B.
  TITLE     Birt-Hogg-Dube syndrome, a genodermatosis associated with
            spontaneous pneumothorax and kidney neoplasia, maps to chromosome
            17p11.2
  JOURNAL   Am J Hum Genet 69 (4), 876-882 (2001)
   PUBMED   11533913
REFERENCE   8  (bases 1 to 3667)
  AUTHORS   Khoo,S.K., Bradley,M., Wong,F.K., Hedblad,M.A., Nordenskjold,M. and
            Teh,B.T.
  TITLE     Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia
            gene to chromosome 17p12-q11.2
  JOURNAL   Oncogene 20 (37), 5239-5242 (2001)
   PUBMED   11526515
REFERENCE   9  (bases 1 to 3667)
  AUTHORS   Potocki,L., Neira-Fresneda,J. and Yuan,B.
  TITLE     Potocki-Lupski Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28837307
REFERENCE   10 (bases 1 to 3667)
  AUTHORS   Sattler,E.C. and Steinlein,O.K.
  TITLE     Birt-Hogg-Dube Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301695
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA461022.1, CX759825.1,
            AF517523.1 and AC055811.20.
            
            On Nov 23, 2018 this sequence version replaced NM_144997.6.
            
            Summary: This gene is located within the Smith-Magenis syndrome
            region on chromosome 17. Mutations in this gene are associated with
            Birt-Hogg-Dube syndrome, which is characterized by
            fibrofolliculomas, renal tumors, lung cysts, and pneumothorax.
            Alternative splicing of this gene results in two transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF517523.1, SRR1803617.69240.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285071.9/ ENSP00000285071.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-132               DA461022.1         18-149
            133-716             CX759825.1         116-699
            717-2780            AF517523.1         688-2751
            2781-2781           AC055811.20        75513-75513         c
            2782-3667           AF517523.1         2753-3638
FEATURES             Location/Qualifiers
     source          1..3667
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..3667
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /note="folliculin"
                     /db_xref="GeneID:201163"
                     /db_xref="HGNC:HGNC:27310"
                     /db_xref="MIM:607273"
     exon            1..257
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            258..371
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            372..460
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            461..733
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     CDS             485..2224
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /EC_number="2.7.1.21"
                     /note="isoform 1 is encoded by transcript variant 1;
                     birt-Hogg-Dube syndrome protein; BHD skin lesion
                     fibrofolliculoma protein"
                     /codon_start=1
                     /product="folliculin isoform 1"
                     /protein_id="NP_659434.2"
                     /db_xref="CCDS:CCDS32579.1"
                     /db_xref="GeneID:201163"
                     /db_xref="HGNC:HGNC:27310"
                     /db_xref="MIM:607273"
                     /translation="MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQ
                     AEEEEGGIQMNSRMRAHSPAEGASVESSSPGPKKSDMCEGCRSLAAGHPGYISHDKET
                     SIKYVSHQHPSHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKD
                     SLARGFQRWYSIITIMMDRIYLINSWPFLLGKVRGIIDELQGKALKVFEAEQFGCPQR
                     AQRMNTAFTPFLHQRNGNAARSLTSLTSDDNLWACLHTSFAWLLKACGSRLTEKLLEG
                     APTEDTLVQMEKLADLEEESESWDNSEAEEEEKAPVLPESTEGRELTQGPAESSSLSG
                     CGSWQPRKLPVFKSLRHMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLR
                     TMLPVGCVRIIPYSSQYEEAYRCNFLGLSPHVQIPPHVLSSEFAVIVEVHAAARSTLH
                     PVGCEDDQSLSKYEFVVTSGSPVAADRVGPTILNKIEAALTNQNLSVDVVDQCLVCLK
                     EEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKTYKSHLM
                     STVRSPTASESRN"
     exon            734..880
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1102
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1263
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1355
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1546
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1660
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..1784
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1916
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            1917..2022
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     exon            2023..3667
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3646..3651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /note="hexamer: AATAAA"
     polyA_site      3667
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /note="major polyA site"
ORIGIN      
        1 ggcggggctg cgggaccgcg agtgagtgtg gtcgctcctg gttctgccag ctcccctgag
       61 agcctgaacc cgggcttgag agcctcgcca ccccgggtga catccctgcc gtgggcttgg
      121 gggctctggg tgtgattccg ccggtccggg tcccgcagcg accacctacc cagcgcagtc
      181 aggggcgggg ctgggaccca gagcgggacc ccggctgccg agtccaggtg tcccgcgggc
      241 ctcgatttgg ggagcagaaa acgccaggtc ttcaagggtg tctgccacca ccatgcctga
      301 cccatttggc agcagcctcg tgtgtggtgg tctggtgtgg acggtggaag cgtgattctg
      361 ctgagtgtca gtgtgaccac tcgtgctcag ccgtatctca gcaggaggac aggtgccgga
      421 gcagctcgtg cagctaagca gccaactgca gaaacgtcag gcctgttgca gtctccaagg
      481 caccatgaat gccatcgtgg ctctctgcca cttctgcgag ctccacggcc cccgcactct
      541 cttctgcacg gaggtgctgc acgccccact tcctcaaggg gatgggaatg aggacagtcc
      601 tggccagggt gagcaggcgg aagaagagga aggtggcatt cagatgaaca gtcggatgcg
      661 tgcgcacagc cccgcagagg gggccagcgt cgagtccagc agcccggggc ccaaaaagtc
      721 ggacatgtgc gagggctgcc ggtcacttgc tgcagggcac ccgggatata tcagccatga
      781 taaagagacc tccattaaat acgtcagcca ccagcacccc agccaccccc agctcttcag
      841 cattgtccgc caggcctgtg tccggagcct gagctgtgag gtctgccctg gccgtgaagg
      901 ccccatcttc ttcggagatg agcagcacgg ctttgtgttc agccacacct tcttcatcaa
      961 ggacagcctg gccaggggct tccagcgctg gtacagcatc atcaccatca tgatggaccg
     1021 gatctacctc atcaactcct ggcccttcct gctggggaag gtccggggaa tcatcgatga
     1081 gctccagggc aaggcgctca aggtgtttga ggcagagcag tttggatgcc cacagcgtgc
     1141 tcagaggatg aacacagcct tcacgccatt cctacaccag aggaacggca acgccgcccg
     1201 ctcgctgaca tcgctgacaa gtgatgacaa cctgtgggcg tgcctgcaca cctcctttgc
     1261 ctggctcctg aaggcgtgtg gcagccggct gaccgagaag ctcctggaag gtgctccgac
     1321 cgaggatacc ttggtccaga tggagaagct cgctgattta gaagaggaat cagaaagctg
     1381 ggacaactct gaggctgaag aggaggagaa agcccctgtg ttgccagaga gtacagaagg
     1441 gcgggagctg acccagggcc cggcagagtc ctcctctctc tcaggctgtg ggagctggca
     1501 gccccggaag ctgccagtct tcaagtccct ccggcacatg aggcaggtcc tgggtgcccc
     1561 ttctttccgc atgctggcct ggcacgttct catggggaac caggtgatct ggaaaagcag
     1621 agacgtggac ctcgtccagt cagcttttga agtacttcgg accatgcttc ccgtgggctg
     1681 cgtccgcatc atcccataca gcagccagta cgaggaggcc tatcggtgca acttcctggg
     1741 gctcagcccg cacgtgcaga tcccccccca cgtgctctcc tcagagtttg ctgtcatcgt
     1801 ggaggtccac gcagccgcac gttccaccct ccaccctgtg gggtgtgagg atgaccagtc
     1861 tctcagcaag tacgagtttg tggtgaccag tgggagccct gtagctgcag accgagtggg
     1921 ccccaccatc ctgaataaga ttgaagcggc tctgaccaac cagaacctgt ctgtggatgt
     1981 ggtggaccag tgcctcgtct gcctcaagga ggagtggatg aacaaagtga aggtgctttt
     2041 taagttcacc aaggtggaca gtcgacccaa agaggacaca cagaagctgc tgagcatcct
     2101 gggtgcgtcc gaggaggaca atgtcaagct gctgaagttc tggatgactg gcctgagcaa
     2161 gacctacaag tcacacctca tgtccacggt ccgcagcccc acagcctcgg agtctcggaa
     2221 ctgacccgtc acacacacct gcctaaagac agggatggct gtccacagga tcctccagcc
     2281 ccgtgagagg gactgtccct tgagtttctc aactgctgga aggagctgtg tcccagcaag
     2341 gaagggaaac catcagggct gggctcggcc ctgtcaggtt tggggcctgt gtgcttccca
     2401 gactctccct ccagccgttg gaatcgctga agatggcaat gaaaggcgga gggatgatgg
     2461 gctctctctg tgttcaaact ccttggagag acgactagga ggacagcttg cctcccaggc
     2521 cccttgtgga cttagactca aaacccgcag gagaaacagg tccgactcag tatgcagtcg
     2581 caataacatg tctgctcccg aggttaacat tcaagcgttt ctactttgaa attcagcaag
     2641 agtttctggg ccttatgttt gagggtacct tttgctgcag ttgtgaatat tcagtacatt
     2701 gccagctctt ggtcactgag tgattgagtt agggctccgc aagagacttt ggggagtgaa
     2761 gtggatctct tcctcatctt ttggtcctct gaaatgtgtg ttctgaagcc atggggctcg
     2821 tcttctgggg tgttcccctg caggtgctgg tgaaggtaac ctggggctta atgatggagt
     2881 ccctgatcat ttttgcacaa gacaggttgc tgaggggtcg gcaagcatct gacttgccca
     2941 atcccctgga tatggtgagc cccgccatgc ttttattctg tatcgctttt gtctttattg
     3001 ctgctttcaa catttacgtt tggttacagt taactatttt cggagtgtgg tgattgaaga
     3061 caatttcatc atcccactgt actttttttt ttgagaggga gtttcactct tgttgcccag
     3121 gctggagtgc aatggcacga tcttggctca ctgcaacctc tgcctcctgg gttcaagcaa
     3181 ttctcctgcc tcagcctcca gagtagctgg aactacaggt gcccgccact atgcccagct
     3241 aatttttgta ttttttagta gagacggggt ttcaccgtgt tggccgggct ggtctcaaac
     3301 tcctgacctc aggtgatcca cccacctcag cctcccaaag tgctgggatt acaagcgtga
     3361 gccactgtgc ctggcccttt tttttttttt tttttttttt tttaaagaga tggcatcttg
     3421 ctatgtcgtc caggctggtc ttgaactcct gagttcaagc agtcctcctg cttcaacata
     3481 cagctacagg taccccccac tatacatttt taataaggat tcatggctca gagggatttt
     3541 ctgatggttt tgctgatttg tttctagttt ttttgtgttt atatttaaca tgaagaccaa
     3601 gtttatataa ctaggtatct gtataatgca acaacattgg aacacaataa agatgtattt
     3661 ttgtaaa
//
