FOXJ1_HUMAN
ID FOXJ1_HUMAN Reviewed; 421 AA.
AC Q92949; O00630;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2000, sequence version 3.
DT 03-AUG-2022, entry version 182.
DE RecName: Full=Forkhead box protein J1 {ECO:0000305};
DE AltName: Full=Forkhead-related protein FKHL13 {ECO:0000303|PubMed:9073514};
DE AltName: Full=Hepatocyte nuclear factor 3 forkhead homolog 4 {ECO:0000303|PubMed:9530170};
DE Short=HFH-4 {ECO:0000303|PubMed:9530170};
GN Name=FOXJ1 {ECO:0000312|HGNC:HGNC:3816};
GN Synonyms=FKHL13 {ECO:0000303|PubMed:9073514},
GN HFH4 {ECO:0000303|PubMed:9530170};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Fetal lung;
RX PubMed=9530170; DOI=10.1152/ajplung.1998.274.3.l351;
RA Pelletier G.J., Brody S.L., Liapis H., White R.A., Hackett B.P.;
RT "A human forkhead/winged-helix transcription factor expressed in developing
RT pulmonary and renal epithelium.";
RL Am. J. Physiol. 274:L351-L359(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RC TISSUE=Testis;
RX PubMed=9073514; DOI=10.1006/geno.1996.4587;
RA Murphy D.B., Seemann S., Wiese S., Kirschner R., Grzeschik K.H., Thies U.;
RT "The human hepatocyte nuclear factor 3/fork head gene FKHL13: genomic
RT structure and pattern of expression.";
RL Genomics 40:462-469(1997).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Maiti A.K., Bartoloni L., Rossier C., Blouin J.-L., Antonarakis S.E.;
RT "No deleterious mutations were found in the HFH-4 gene in patients with
RT primary ciliary dyskinesia.";
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP INVOLVEMENT IN SUSCEPTIBILITY TO ALRH.
RX PubMed=16518568; DOI=10.1007/s10038-006-0359-8;
RA Li C.-S., Chae S.-C., Lee J.-H., Zhang Q., Chung H.-T.;
RT "Identification of single nucleotide polymorphisms in FOXJ1 and their
RT association with allergic rhinitis.";
RL J. Hum. Genet. 51:292-297(2006).
RN [6]
RP VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL,
RP CHARACTERIZATION OF VARIANTS CILD43 276-GLN--LEU-421 DEL AND
RP 301-GLU--LEU-421 DEL, AND FUNCTION.
RX PubMed=31630787; DOI=10.1016/j.ajhg.2019.09.022;
RA Wallmeier J., Frank D., Shoemark A., Noethe-Menchen T., Cindric S.,
RA Olbrich H., Loges N.T., Aprea I., Dougherty G.W., Pennekamp P., Kaiser T.,
RA Mitchison H.M., Hogg C., Carr S.B., Zariwala M.A., Ferkol T., Leigh M.W.,
RA Davis S.D., Atkinson J., Dutcher S.K., Knowles M.R., Thiele H.,
RA Altmueller J., Krenz H., Woeste M., Brentrup A., Ahrens F., Vogelberg C.,
RA Morris-Rosendahl D.J., Omran H.;
RT "De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with
RT Hydrocephalus and Randomization of Left/Right Body Asymmetry.";
RL Am. J. Hum. Genet. 105:1030-1039(2019).
CC -!- FUNCTION: Transcription factor specifically required for the formation
CC of motile cilia (PubMed:31630787). Acts by activating transcription of
CC genes that mediate assembly of motile cilia, such as CFAP157. Binds the
CC DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3'
CC (where H is not G, W is A or T, D is not C, and K is G or T). Activates
CC the transcription of a variety of ciliary proteins in the developing
CC brain and lung. {ECO:0000250|UniProtKB:Q61660,
CC ECO:0000269|PubMed:31630787}.
CC -!- INTERACTION:
CC Q92949; P48378: RFX2; NbExp=5; IntAct=EBI-1760377, EBI-746731;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q61660}.
CC -!- TISSUE SPECIFICITY: Testis, oviduct, lung and brain cortex.
CC -!- DEVELOPMENTAL STAGE: Expressed in developing lung, kidney and central
CC nervous system.
CC -!- DISEASE: Allergic rhinitis (ALRH) [MIM:607154]: A common disease with
CC complex inheritance characterized by mucosal inflammation caused by
CC allergen exposure. {ECO:0000269|PubMed:16518568}. Note=Disease
CC susceptibility may be associated with variants affecting the gene
CC represented in this entry.
CC -!- DISEASE: Ciliary dyskinesia, primary, 43 (CILD43) [MIM:618699]: A form
CC of primary ciliary dyskinesia, a disorder characterized by
CC abnormalities of motile cilia. Respiratory infections leading to
CC chronic inflammation and bronchiectasis are recurrent, due to defects
CC in the respiratory cilia. Patients with this disorder also develop
CC significant obstructive hydrocephalus. Other more variable features
CC include infertility and about a 50% chance of situs inversus or other
CC left-right asymmetry defects. CILD43 inheritance is autosomal dominant.
CC {ECO:0000269|PubMed:31630787}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the FOXJ1 family. {ECO:0000305}.
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DR EMBL; U69537; AAB09039.1; -; mRNA.
DR EMBL; X99349; CAA67729.1; -; mRNA.
DR EMBL; X99350; CAA67730.1; -; Genomic_DNA.
DR EMBL; X99351; CAA67730.1; JOINED; Genomic_DNA.
DR EMBL; AJ272064; CAB76562.1; -; Genomic_DNA.
DR EMBL; BC046460; AAH46460.1; -; mRNA.
DR CCDS; CCDS32739.1; -.
DR RefSeq; NP_001445.2; NM_001454.3.
DR AlphaFoldDB; Q92949; -.
DR SMR; Q92949; -.
DR BioGRID; 108591; 27.
DR IntAct; Q92949; 23.
DR MINT; Q92949; -.
DR STRING; 9606.ENSP00000323880; -.
DR iPTMnet; Q92949; -.
DR PhosphoSitePlus; Q92949; -.
DR BioMuta; FOXJ1; -.
DR DMDM; 12644465; -.
DR jPOST; Q92949; -.
DR MassIVE; Q92949; -.
DR MaxQB; Q92949; -.
DR PaxDb; Q92949; -.
DR PeptideAtlas; Q92949; -.
DR PRIDE; Q92949; -.
DR ProteomicsDB; 75620; -.
DR Antibodypedia; 1443; 250 antibodies from 32 providers.
DR DNASU; 2302; -.
DR Ensembl; ENST00000322957.7; ENSP00000323880.4; ENSG00000129654.8.
DR GeneID; 2302; -.
DR KEGG; hsa:2302; -.
DR MANE-Select; ENST00000322957.7; ENSP00000323880.4; NM_001454.4; NP_001445.2.
DR UCSC; uc002jqx.4; human.
DR CTD; 2302; -.
DR DisGeNET; 2302; -.
DR GeneCards; FOXJ1; -.
DR HGNC; HGNC:3816; FOXJ1.
DR HPA; ENSG00000129654; Tissue enhanced (brain, choroid plexus, fallopian tube).
DR MalaCards; FOXJ1; -.
DR MIM; 602291; gene.
DR MIM; 607154; phenotype.
DR MIM; 618699; phenotype.
DR neXtProt; NX_Q92949; -.
DR OpenTargets; ENSG00000129654; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA28233; -.
DR VEuPathDB; HostDB:ENSG00000129654; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000156895; -.
DR HOGENOM; CLU_050055_0_0_1; -.
DR InParanoid; Q92949; -.
DR OMA; FKKRRMP; -.
DR OrthoDB; 1270467at2759; -.
DR PhylomeDB; Q92949; -.
DR TreeFam; TF333250; -.
DR PathwayCommons; Q92949; -.
DR SignaLink; Q92949; -.
DR SIGNOR; Q92949; -.
DR BioGRID-ORCS; 2302; 16 hits in 1091 CRISPR screens.
DR ChiTaRS; FOXJ1; human.
DR GeneWiki; FOXJ1; -.
DR GenomeRNAi; 2302; -.
DR Pharos; Q92949; Tbio.
DR PRO; PR:Q92949; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q92949; protein.
DR Bgee; ENSG00000129654; Expressed in right uterine tube and 125 other tissues.
DR ExpressionAtlas; Q92949; baseline and differential.
DR Genevisible; Q92949; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
DR GO; GO:0003677; F:DNA binding; NAS:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; ISS:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:BHF-UCL.
DR GO; GO:0030036; P:actin cytoskeleton organization; ISS:BHF-UCL.
DR GO; GO:0090630; P:activation of GTPase activity; ISS:BHF-UCL.
DR GO; GO:0035082; P:axoneme assembly; IMP:UniProtKB.
DR GO; GO:0007420; P:brain development; ISS:BHF-UCL.
DR GO; GO:0002508; P:central tolerance induction; ISS:BHF-UCL.
DR GO; GO:0032053; P:ciliary basal body organization; IMP:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:UniProtKB.
DR GO; GO:0060429; P:epithelium development; ISS:BHF-UCL.
DR GO; GO:0035089; P:establishment of apical/basal cell polarity; ISS:BHF-UCL.
DR GO; GO:0072016; P:glomerular parietal epithelial cell development; IEP:BHF-UCL.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0006959; P:humoral immune response; ISS:BHF-UCL.
DR GO; GO:0060972; P:left/right pattern formation; IEA:Ensembl.
DR GO; GO:0050900; P:leukocyte migration; ISS:BHF-UCL.
DR GO; GO:0060428; P:lung epithelium development; IEP:BHF-UCL.
DR GO; GO:0035502; P:metanephric part of ureteric bud development; IEP:BHF-UCL.
DR GO; GO:0044458; P:motile cilium assembly; IEA:Ensembl.
DR GO; GO:0050869; P:negative regulation of B cell activation; ISS:BHF-UCL.
DR GO; GO:0002635; P:negative regulation of germinal center formation; ISS:BHF-UCL.
DR GO; GO:0002924; P:negative regulation of humoral immune response mediated by circulating immunoglobulin; ISS:BHF-UCL.
DR GO; GO:0032715; P:negative regulation of interleukin-6 production; ISS:BHF-UCL.
DR GO; GO:0032088; P:negative regulation of NF-kappaB transcription factor activity; ISS:BHF-UCL.
DR GO; GO:0033085; P:negative regulation of T cell differentiation in thymus; ISS:BHF-UCL.
DR GO; GO:0042130; P:negative regulation of T cell proliferation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0007389; P:pattern specification process; ISS:BHF-UCL.
DR GO; GO:0002897; P:positive regulation of central B cell tolerance induction; ISS:BHF-UCL.
DR GO; GO:1901248; P:positive regulation of lung ciliated cell differentiation; IDA:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:BHF-UCL.
DR GO; GO:0008104; P:protein localization; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; NAS:UniProtKB.
DR CDD; cd00059; FH; 1.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR001766; Fork_head_dom.
DR InterPro; IPR018122; TF_fork_head_CS_1.
DR InterPro; IPR030456; TF_fork_head_CS_2.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR Pfam; PF00250; Forkhead; 1.
DR PRINTS; PR00053; FORKHEAD.
DR SMART; SM00339; FH; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS00657; FORK_HEAD_1; 1.
DR PROSITE; PS00658; FORK_HEAD_2; 1.
DR PROSITE; PS50039; FORK_HEAD_3; 1.
PE 1: Evidence at protein level;
KW Activator; Ciliopathy; Cilium biogenesis/degradation; Disease variant;
KW DNA-binding; Nucleus; Primary ciliary dyskinesia; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..421
FT /note="Forkhead box protein J1"
FT /id="PRO_0000091850"
FT DNA_BIND 120..210
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 1..34
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 48..116
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 261..302
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 87..101
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 276..421
FT /note="Missing (in CILD43; reduced number of cilia and
FT mislocalized basal bodies; defects of axonemal microtubular
FT organization; loss of ability to propel mucous along the
FT surface of the epithelium; abnormal localization of PTK2)"
FT /evidence="ECO:0000269|PubMed:31630787"
FT /id="VAR_083456"
FT VARIANT 301..421
FT /note="Missing (in CILD43; reduced number of cilia and
FT mislocalized basal bodies; defects of axonemal microtubular
FT organization; loss of ability to propel mucous along the
FT surface of the epithelium; abnormal localization of PTK2)"
FT /evidence="ECO:0000269|PubMed:31630787"
FT /id="VAR_083457"
FT CONFLICT 5
FT /note="W -> C (in Ref. 2; CAA67729/CAA67730)"
FT /evidence="ECO:0000305"
FT CONFLICT 11
FT /note="A -> T (in Ref. 2; CAA67729/CAA67730)"
FT /evidence="ECO:0000305"
FT CONFLICT 17..22
FT /note="AGPEGG -> PAGGR (in Ref. 2; CAA67729)"
FT /evidence="ECO:0000305"
FT CONFLICT 56
FT /note="G -> A (in Ref. 1; AAB09039)"
FT /evidence="ECO:0000305"
FT CONFLICT 257
FT /note="A -> P (in Ref. 2; CAA67729/CAA67730)"
FT /evidence="ECO:0000305"
FT CONFLICT 262..287
FT /note="GWGAGEGRLGHKRKQPLPKRVAKVPR -> VWVQARAGWDISPNTLCPRGGQ
FT GPA (in Ref. 2; CAA67729)"
FT /evidence="ECO:0000305"
FT CONFLICT 311
FT /note="W -> L (in Ref. 1; AAB09039)"
FT /evidence="ECO:0000305"
FT CONFLICT 330
FT /note="L -> V (in Ref. 1; AAB09039)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 421 AA; 45247 MW; A8BB0020CB67F97F CRC64;
MAESWLRLSG AGPAEEAGPE GGLEEPDALD DSLTSLQWLQ EFSILNAKAP ALPPGGTDPH
GYHQVPGSAA PGSPLAADPA CLGQPHTPGK PTSSCTSRSA PPGLQAPPPD DVDYATNPHV
KPPYSYATLI CMAMQASKAT KITLSAIYKW ITDNFCYFRH ADPTWQNSIR HNLSLNKCFI
KVPREKDEPG KGGFWRIDPQ YAERLLSGAF KKRRLPPVHI HPAFARQAAQ EPSAVPRAGP
LTVNTEAQQL LREFEEATGE AGWGAGEGRL GHKRKQPLPK RVAKVPRPPS TLLPTPEEQG
ELEPLKGNFD WEAIFDAGTL GGELGALEAL ELSPPLSPAS HVDVDLTIHG RHIDCPATWG
PSVEQAADSL DFDETFLATS FLQHPWDESG SGCLPPEPLF EAGDATLASD LQDWASVGAF
L
