LOCUS       NM_001454               2587 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens forkhead box J1 (FOXJ1), mRNA.
ACCESSION   NM_001454
VERSION     NM_001454.4
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 2587)
  AUTHORS   Padua,M.B., Helm,B.M., Wells,J.R., Smith,A.M., Bellchambers,H.M.,
            Sridhar,A. and Ware,S.M.
  TITLE     Congenital heart defects caused by FOXJ1
  JOURNAL   Hum Mol Genet 32 (14), 2335-2346 (2023)
   PUBMED   37158461
  REMARK    GeneRIF: Congenital heart defects caused by FOXJ1.
REFERENCE   2  (bases 1 to 2587)
  AUTHORS   Zou,X.L., Yang,H.L., Ding,W.W., Li,H.K., Zhou,Y.Q. and Zhang,T.T.
  TITLE     Down-expression of Foxj1 on airway epithelium with impaired cilia
            architecture in non-cystic fibrosis bronchiectasis implies disease
            severity
  JOURNAL   Clin Respir J 17 (5), 405-413 (2023)
   PUBMED   36929635
  REMARK    GeneRIF: Down-expression of Foxj1 on airway epithelium with
            impaired cilia architecture in non-cystic fibrosis bronchiectasis
            implies disease severity.
REFERENCE   3  (bases 1 to 2587)
  AUTHORS   Weir,A., Kang,E.Y., Meagher,N.S., Nelson,G.S., Ghatage,P.,
            Lee,C.H., Riggan,M.J., Gentry-Maharaj,A., Ryan,A., Singh,N.,
            Widschwendter,M., Alsop,J., Anglesio,M.S., Beckmann,M.W.,
            Berger,J., Bisinotto,C., Boros,J., Brand,A.H., Brenton,J.D.,
            Brooks-Wilson,A., Carney,M.E., Cunningham,J.M.,
            Cushing-Haugen,K.L., Cybulski,C., Elishaev,E., Erber,R.,
            Fereday,S., Fischer,A., Paz-Ares,L., Gayarre,J., Gilks,B.C.,
            Grube,M., Harnett,P.R., Harris,H.R., Hartmann,A., Hein,A.,
            Hendley,J., Hernandez,B.Y., Heublein,S., Huang,Y., Huzarski,T.,
            Jakubowska,A., Jimenez-Linan,M., Kennedy,C.J., Kommoss,F.K.F.,
            Koziak,J.M., Kraemer,B., Le,N.D., Lesnock,J., Lester,J.,
            Lubinski,J., Menkiszak,J., Ney,B., Olawaiye,A., Orsulic,S.,
            Osorio,A., Robles-Diaz,L., Ruebner,M., Shah,M., Sharma,R.,
            Shvetsov,Y.B., Steed,H., Talhouk,A., Taylor,S.E., Traficante,N.,
            Vierkant,R.A., Wang,C., Wilkens,L.R., Winham,S.J., Benitez,J.,
            Berchuck,A., Bowtell,D.D., Candido Dos Reis,F.J., Cook,L.S.,
            DeFazio,A., Doherty,J.A., Fasching,P.A., Garcia,M.J., Goode,E.L.,
            Goodman,M.T., Gronwald,J., Huntsman,D.G., Karlan,B.Y., Kommoss,S.,
            Modugno,F., Schildkraut,J.M., Sinn,H.P., Staebler,A., Kelemen,L.E.,
            Ford,C.E., Menon,U., Pharoah,P.D.P., Kobel,M. and Ramus,S.J.
  CONSRTM   AOCs group
  TITLE     Increased FOXJ1 protein expression is associated with improved
            overall survival in high-grade serous ovarian carcinoma: an Ovarian
            Tumor Tissue Analysis Consortium Study
  JOURNAL   Br J Cancer 128 (1), 137-147 (2023)
   PUBMED   36323878
  REMARK    GeneRIF: Increased FOXJ1 protein expression is associated with
            improved overall survival in high-grade serous ovarian carcinoma:
            an Ovarian Tumor Tissue Analysis Consortium Study.
REFERENCE   4  (bases 1 to 2587)
  AUTHORS   Shapiro,A.J., Kaspy,K., Daniels,M.L.A., Stonebraker,J.R.,
            Nguyen,V.H., Joyal,L., Knowles,M.R. and Zariwala,M.A.
  TITLE     Autosomal dominant variants in FOXJ1 causing primary ciliary
            dyskinesia in two patients with obstructive hydrocephalus
  JOURNAL   Mol Genet Genomic Med 9 (7), e1726 (2021)
   PUBMED   34132502
  REMARK    GeneRIF: Autosomal dominant variants in FOXJ1 causing primary
            ciliary dyskinesia in two patients with obstructive hydrocephalus.
REFERENCE   5  (bases 1 to 2587)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 2587)
  AUTHORS   Li,C.S., Chae,S.C., Lee,J.H., Zhang,Q. and Chung,H.T.
  TITLE     Identification of single nucleotide polymorphisms in FOXJ1 and
            their association with allergic rhinitis
  JOURNAL   J Hum Genet 51 (4), 292-297 (2006)
   PUBMED   16518568
  REMARK    GeneRIF: Single nucleotide polymorphisms were identified in FOXJ1
            and a significant association was found with allergic rhinitis.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2587)
  AUTHORS   Maiti,A.K., Bartoloni,L., Mitchison,H.M., Meeks,M., Chung,E.,
            Spiden,S., Gehrig,C., Rossier,C., DeLozier-Blanchet,C.D.,
            Blouin,J., Gardiner,R.M. and Antonarakis,S.E.
  TITLE     No deleterious mutations in the FOXJ1 (alias HFH-4) gene in
            patients with primary ciliary dyskinesia (PCD)
  JOURNAL   Cytogenet Cell Genet 90 (1-2), 119-122 (2000)
   PUBMED   11060460
REFERENCE   8  (bases 1 to 2587)
  AUTHORS   Pelletier,G.J., Brody,S.L., Liapis,H., White,R.A. and Hackett,B.P.
  TITLE     A human forkhead/winged-helix transcription factor expressed in
            developing pulmonary and renal epithelium
  JOURNAL   Am J Physiol 274 (3), L351-L359 (1998)
   PUBMED   9530170
REFERENCE   9  (bases 1 to 2587)
  AUTHORS   Lim,L., Zhou,H. and Costa,R.H.
  TITLE     The winged helix transcription factor HFH-4 is expressed during
            choroid plexus epithelial development in the mouse embryo
  JOURNAL   Proc Natl Acad Sci U S A 94 (7), 3094-3099 (1997)
   PUBMED   9096351
REFERENCE   10 (bases 1 to 2587)
  AUTHORS   Murphy,D.B., Seemann,S., Wiese,S., Kirschner,R., Grzeschik,K.H. and
            Thies,U.
  TITLE     The human hepatocyte nuclear factor 3/fork head gene FKHL13:
            genomic structure and pattern of expression
  JOURNAL   Genomics 40 (3), 462-469 (1997)
   PUBMED   9073514
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC046460.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001454.3.
            
            Summary: This gene encodes a member of the forkhead family of
            transcription factors. Similar genes in zebrafish and mouse have
            been shown to regulate the transcription of genes that control the
            production of motile cilia. The mouse ortholog also functions in
            the determination of left-right asymmetry. Polymorphisms in this
            gene are associated with systemic lupus erythematosus and allergic
            rhinitis.[provided by RefSeq, Sep 2009].
            
            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 :: BC046460.1, SRR3476690.345921.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674, SAMN03267780
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322957.7/ ENSP00000323880.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2587              BC046460.1         46-2632
FEATURES             Location/Qualifiers
     source          1..2587
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..2587
                     /gene="FOXJ1"
                     /gene_synonym="CILD43; FKHL13; HFH-4; HFH4"
                     /note="forkhead box J1"
                     /db_xref="GeneID:2302"
                     /db_xref="HGNC:HGNC:3816"
                     /db_xref="MIM:602291"
     exon            1..132
                     /gene="FOXJ1"
                     /gene_synonym="CILD43; FKHL13; HFH-4; HFH4"
                     /inference="alignment:Splign:2.1.0"
     exon            133..799
                     /gene="FOXJ1"
                     /gene_synonym="CILD43; FKHL13; HFH-4; HFH4"
                     /inference="alignment:Splign:2.1.0"
     CDS             302..1567
                     /gene="FOXJ1"
                     /gene_synonym="CILD43; FKHL13; HFH-4; HFH4"
                     /note="forkhead-like 13; forkhead transcription factor
                     HFH-4; fork head homologue 4; forkhead-related protein
                     FKHL13; hepatocyte nuclear factor 3 forkhead homolog 4"
                     /codon_start=1
                     /product="forkhead box protein J1"
                     /protein_id="NP_001445.2"
                     /db_xref="CCDS:CCDS32739.1"
                     /db_xref="GeneID:2302"
                     /db_xref="HGNC:HGNC:3816"
                     /db_xref="MIM:602291"
                     /translation="MAESWLRLSGAGPAEEAGPEGGLEEPDALDDSLTSLQWLQEFSI
                     LNAKAPALPPGGTDPHGYHQVPGSAAPGSPLAADPACLGQPHTPGKPTSSCTSRSAPP
                     GLQAPPPDDVDYATNPHVKPPYSYATLICMAMQASKATKITLSAIYKWITDNFCYFRH
                     ADPTWQNSIRHNLSLNKCFIKVPREKDEPGKGGFWRIDPQYAERLLSGAFKKRRLPPV
                     HIHPAFARQAAQEPSAVPRAGPLTVNTEAQQLLREFEEATGEAGWGAGEGRLGHKRKQ
                     PLPKRVAKVPRPPSTLLPTPEEQGELEPLKGNFDWEAIFDAGTLGGELGALEALELSP
                     PLSPASHVDVDLTIHGRHIDCPATWGPSVEQAADSLDFDETFLATSFLQHPWDESGSG
                     CLPPEPLFEAGDATLASDLQDWASVGAFL"
     exon            800..2587
                     /gene="FOXJ1"
                     /gene_synonym="CILD43; FKHL13; HFH-4; HFH4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2565..2570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXJ1"
                     /gene_synonym="CILD43; FKHL13; HFH-4; HFH4"
                     /note="hexamer: AATAAA"
     polyA_site      2587
                     /gene="FOXJ1"
                     /gene_synonym="CILD43; FKHL13; HFH-4; HFH4"
                     /note="major polyA site"
ORIGIN      
        1 agagaagcgc cgtcgggcgg gggggcggca agaggcgctg gcagggcccc cgagctgggg
       61 gcagagagcc gcagggggtg ggagcaactt cttccagaac cttcctctgg cccgggctgc
      121 gctctgagcc aggcaccaca tacttattcg gaggaggcgc ccccggggtc gcgagatgga
      181 agcgcgcgtc cgggaggccg tgtaacggga gctgcgggac tcagcgggcc agagagcgcg
      241 gcgggccacc cccggctcag cccgtggatg ctgaccgccc cctcggagag tccccgcaga
      301 catggcggag agctggctgc gcctctcggg agccgggccg gcggaggagg ccgggccgga
      361 gggcggcctg gaggagcccg acgccctgga tgacagcctg accagcctgc agtggctgca
      421 ggaattctcc attctcaacg ccaaggcccc cgccctgccc ccggggggca ccgaccccca
      481 cggctaccac caggtgccag gttcagcggc gcccgggtcc cccctggcgg ccgaccccgc
      541 ctgcctgggg cagccacaca cgccgggcaa gcccacgtcg tcgtgcacgt cgcggagcgc
      601 gcccccgggg ctgcaggccc caccccccga cgacgtggac tacgccacca atccgcacgt
      661 gaagcctccc tactcgtatg ccacgctcat ctgcatggcc atgcaggcca gcaaggccac
      721 caagatcacc ctgtcggcca tctacaagtg gatcacggac aacttctgct acttccgcca
      781 cgcagatccc acctggcaga attcaatccg ccacaacctg tctctgaaca agtgcttcat
      841 caaagtgcct cgggagaagg acgaaccagg caaggggggc ttctggcgca ttgaccccca
      901 gtacgcggag cggctactga gcggcgcttt caagaagcgg cgactgcccc ctgtccacat
      961 ccacccagcc tttgcccgcc aggccgcgca ggagcccagc gctgtccccc gggccgggcc
     1021 gctgacggtg aataccgagg cccagcagct gctgcgggag ttcgaggagg ccaccgggga
     1081 ggcgggctgg ggtgcaggcg agggcaggct ggggcataag cgcaaacagc cgctgcccaa
     1141 gcgggtggcc aaggtcccgc ggccccccag caccctgctg cccaccccgg aggagcaggg
     1201 tgagctggaa cccctcaaag gcaactttga ctgggaggcc atcttcgacg ccggcactct
     1261 gggcggggag ctgggtgcac tggaggccct ggagctgagc ccgcctctga gccccgcctc
     1321 acacgtggac gtggacctca ccatccacgg ccgccacatc gactgccctg ccacctgggg
     1381 gccttcggtg gagcaggctg ccgacagcct ggacttcgat gagaccttcc tggccacatc
     1441 cttcctgcag cacccctggg acgagagcgg cagtggctgc ctgcccccgg agcccctctt
     1501 tgaggctggg gatgccaccc tggcctccga cctgcaggac tgggccagcg tgggggcctt
     1561 cttgtaagag gccaggccct gccccacctc tggacagtgc ccaagtcagg gtccagaact
     1621 gccccccaac acaggtccac agacacccca ccacctaggc aggggctggg ccagggctcc
     1681 aaggcttgcc ccagaggcca catggccacc agccccagct gccatcagat tcaagcccag
     1741 gaggctgaaa acgagggccc aggaccagaa tcgctgcctc ctctccccag ccccaccttg
     1801 tacacacagt gtttcattgc tccgcgtctt cccagcccca gaaaccggct aaaggaccct
     1861 gcaccatgag agccgaggcc tggaggagcc cgggtcaggc tggggaggaa cagaactggg
     1921 ccctcccaga gcacctccgc ttcccccctg cttccccagg tctctatcca gagagagtcc
     1981 ccaggtacaa caaatgctaa ttagatgaca gcaaattaac cccctggagg cttctcctgg
     2041 cagagcctcc ctggggccgg ggcaggctgt ggatggggcg gagcagggca gaagatggac
     2101 tgggggaggg ggcagagaga ggagaccaaa atgaggtggt ggcacagggt ggggcaagga
     2161 gatcctctct aaggcctctg gggtctttgc ctggccccat ccctaggggg cggggagggg
     2221 acgtaaatcc ctaatcttta agcccgactt gaggctgaga gcagctggaa gtttgggttt
     2281 ggtggtttgg gggccggggc agccaagctg tatggggcag gacagacaga ctaatgtagt
     2341 gagtgtagct gtagctgagg cttaactggg agggatgccg agcttgctgg aactactggg
     2401 accaagaagc ggggtacccc acgcccctgc ctgcactcct cgggggcgtg gggcgtgcct
     2461 tgctccaccc ggactccctg ggctgcgtcc cacatccacc ctcctgcccc gtggggcaat
     2521 ttaacctttt tcatgaaagt tatttacaat gaaaagtttt taaaaataaa atttttaaaa
     2581 atctaaa
//
