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Q92949

- FOXJ1_HUMAN

UniProt

Q92949 - FOXJ1_HUMAN

Protein

Forkhead box protein J1

Gene

FOXJ1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 3 (01 Dec 2000)
      Previous versions | rss
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    Functioni

    May play an important role in cell fate determination during lung development and in spermatogenesis.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi120 – 21091Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    3. transcription regulatory region sequence-specific DNA binding Source: BHF-UCL

    GO - Biological processi

    1. actin cytoskeleton organization Source: BHF-UCL
    2. activation of Rho GTPase activity Source: BHF-UCL
    3. brain development Source: BHF-UCL
    4. central tolerance induction Source: BHF-UCL
    5. cilium assembly Source: BHF-UCL
    6. epithelium development Source: BHF-UCL
    7. establishment of apical/basal cell polarity Source: BHF-UCL
    8. glomerular parietal epithelial cell development Source: BHF-UCL
    9. humoral immune response Source: BHF-UCL
    10. left/right pattern formation Source: Ensembl
    11. leukocyte migration Source: BHF-UCL
    12. lung epithelium development Source: BHF-UCL
    13. metanephric part of ureteric bud development Source: BHF-UCL
    14. negative regulation of B cell activation Source: BHF-UCL
    15. negative regulation of germinal center formation Source: BHF-UCL
    16. negative regulation of humoral immune response mediated by circulating immunoglobulin Source: BHF-UCL
    17. negative regulation of interleukin-6 biosynthetic process Source: BHF-UCL
    18. negative regulation of NF-kappaB transcription factor activity Source: BHF-UCL
    19. negative regulation of T cell differentiation in thymus Source: BHF-UCL
    20. negative regulation of T cell proliferation Source: Ensembl
    21. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    22. pattern specification process Source: BHF-UCL
    23. positive regulation of central B cell tolerance induction Source: BHF-UCL
    24. positive regulation of lung ciliated cell differentiation Source: BHF-UCL
    25. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    26. spermatogenesis Source: UniProtKB
    27. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein J1
    Alternative name(s):
    Forkhead-related protein FKHL13
    Hepatocyte nuclear factor 3 forkhead homolog 4
    Short name:
    HFH-4
    Gene namesi
    Name:FOXJ1
    Synonyms:FKHL13, HFH4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:3816. FOXJ1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Allergic rhinitis (ALRH) [MIM:607154]: A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure.1 Publication
    Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi607154. phenotype.
    PharmGKBiPA28233.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 421421Forkhead box protein J1PRO_0000091850Add
    BLAST

    Proteomic databases

    PaxDbiQ92949.
    PRIDEiQ92949.

    Expressioni

    Tissue specificityi

    Testis, oviduct, lung and brain cortex.

    Developmental stagei

    Expressed in developing lung, kidney and central nervous system.

    Gene expression databases

    BgeeiQ92949.
    CleanExiHS_FOXJ1.
    GenevestigatoriQ92949.

    Organism-specific databases

    HPAiHPA005714.

    Interactioni

    Protein-protein interaction databases

    BioGridi108591. 7 interactions.
    IntActiQ92949. 8 interactions.
    STRINGi9606.ENSP00000323880.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92949.
    SMRiQ92949. Positions 121-214.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5025.
    HOGENOMiHOG000112631.
    HOVERGENiHBG056832.
    InParanoidiQ92949.
    KOiK09402.
    OMAiWEAIFDA.
    OrthoDBiEOG7T4MKM.
    PhylomeDBiQ92949.
    TreeFamiTF333250.

    Family and domain databases

    Gene3Di1.10.10.10. 1 hit.
    InterProiIPR001766. TF_fork_head.
    IPR018122. TF_fork_head_CS.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF00250. Fork_head. 1 hit.
    [Graphical view]
    PRINTSiPR00053. FORKHEAD.
    SMARTiSM00339. FH. 1 hit.
    [Graphical view]
    PROSITEiPS00657. FORK_HEAD_1. 1 hit.
    PS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q92949-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAESWLRLSG AGPAEEAGPE GGLEEPDALD DSLTSLQWLQ EFSILNAKAP    50
    ALPPGGTDPH GYHQVPGSAA PGSPLAADPA CLGQPHTPGK PTSSCTSRSA 100
    PPGLQAPPPD DVDYATNPHV KPPYSYATLI CMAMQASKAT KITLSAIYKW 150
    ITDNFCYFRH ADPTWQNSIR HNLSLNKCFI KVPREKDEPG KGGFWRIDPQ 200
    YAERLLSGAF KKRRLPPVHI HPAFARQAAQ EPSAVPRAGP LTVNTEAQQL 250
    LREFEEATGE AGWGAGEGRL GHKRKQPLPK RVAKVPRPPS TLLPTPEEQG 300
    ELEPLKGNFD WEAIFDAGTL GGELGALEAL ELSPPLSPAS HVDVDLTIHG 350
    RHIDCPATWG PSVEQAADSL DFDETFLATS FLQHPWDESG SGCLPPEPLF 400
    EAGDATLASD LQDWASVGAF L 421
    Length:421
    Mass (Da):45,247
    Last modified:December 1, 2000 - v3
    Checksum:iA8BB0020CB67F97F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti5 – 51W → C in CAA67729. (PubMed:9073514)Curated
    Sequence conflicti5 – 51W → C in CAA67730. (PubMed:9073514)Curated
    Sequence conflicti11 – 111A → T in CAA67729. (PubMed:9073514)Curated
    Sequence conflicti11 – 111A → T in CAA67730. (PubMed:9073514)Curated
    Sequence conflicti17 – 226AGPEGG → PAGGR in CAA67729. (PubMed:9073514)Curated
    Sequence conflicti56 – 561G → A in AAB09039. (PubMed:9530170)Curated
    Sequence conflicti257 – 2571A → P in CAA67729. (PubMed:9073514)Curated
    Sequence conflicti257 – 2571A → P in CAA67730. (PubMed:9073514)Curated
    Sequence conflicti262 – 28726GWGAG…AKVPR → VWVQARAGWDISPNTLCPRG GQGPA in CAA67729. (PubMed:9073514)CuratedAdd
    BLAST
    Sequence conflicti311 – 3111W → L in AAB09039. (PubMed:9530170)Curated
    Sequence conflicti330 – 3301L → V in AAB09039. (PubMed:9530170)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U69537 mRNA. Translation: AAB09039.1.
    X99349 mRNA. Translation: CAA67729.1.
    X99350, X99351 Genomic DNA. Translation: CAA67730.1.
    AJ272064 Genomic DNA. Translation: CAB76562.1.
    BC046460 mRNA. Translation: AAH46460.1.
    CCDSiCCDS32739.1.
    RefSeqiNP_001445.2. NM_001454.3.
    UniGeneiHs.651204.

    Genome annotation databases

    EnsembliENST00000322957; ENSP00000323880; ENSG00000129654.
    GeneIDi2302.
    KEGGihsa:2302.
    UCSCiuc002jqx.3. human.

    Polymorphism databases

    DMDMi12644465.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U69537 mRNA. Translation: AAB09039.1 .
    X99349 mRNA. Translation: CAA67729.1 .
    X99350 , X99351 Genomic DNA. Translation: CAA67730.1 .
    AJ272064 Genomic DNA. Translation: CAB76562.1 .
    BC046460 mRNA. Translation: AAH46460.1 .
    CCDSi CCDS32739.1.
    RefSeqi NP_001445.2. NM_001454.3.
    UniGenei Hs.651204.

    3D structure databases

    ProteinModelPortali Q92949.
    SMRi Q92949. Positions 121-214.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108591. 7 interactions.
    IntActi Q92949. 8 interactions.
    STRINGi 9606.ENSP00000323880.

    Polymorphism databases

    DMDMi 12644465.

    Proteomic databases

    PaxDbi Q92949.
    PRIDEi Q92949.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000322957 ; ENSP00000323880 ; ENSG00000129654 .
    GeneIDi 2302.
    KEGGi hsa:2302.
    UCSCi uc002jqx.3. human.

    Organism-specific databases

    CTDi 2302.
    GeneCardsi GC17M074132.
    HGNCi HGNC:3816. FOXJ1.
    HPAi HPA005714.
    MIMi 602291. gene.
    607154. phenotype.
    neXtProti NX_Q92949.
    PharmGKBi PA28233.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOGENOMi HOG000112631.
    HOVERGENi HBG056832.
    InParanoidi Q92949.
    KOi K09402.
    OMAi WEAIFDA.
    OrthoDBi EOG7T4MKM.
    PhylomeDBi Q92949.
    TreeFami TF333250.

    Miscellaneous databases

    GeneWikii FOXJ1.
    GenomeRNAii 2302.
    NextBioi 9347.
    PROi Q92949.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q92949.
    CleanExi HS_FOXJ1.
    Genevestigatori Q92949.

    Family and domain databases

    Gene3Di 1.10.10.10. 1 hit.
    InterProi IPR001766. TF_fork_head.
    IPR018122. TF_fork_head_CS.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF00250. Fork_head. 1 hit.
    [Graphical view ]
    PRINTSi PR00053. FORKHEAD.
    SMARTi SM00339. FH. 1 hit.
    [Graphical view ]
    PROSITEi PS00657. FORK_HEAD_1. 1 hit.
    PS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A human forkhead/winged-helix transcription factor expressed in developing pulmonary and renal epithelium."
      Pelletier G.J., Brody S.L., Liapis H., White R.A., Hackett B.P.
      Am. J. Physiol. 274:L351-L359(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fetal lung.
    2. "The human hepatocyte nuclear factor 3/fork head gene FKHL13: genomic structure and pattern of expression."
      Murphy D.B., Seemann S., Wiese S., Kirschner R., Grzeschik K.H., Thies U.
      Genomics 40:462-469(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Testis.
    3. "No deleterious mutations were found in the HFH-4 gene in patients with primary ciliary dyskinesia."
      Maiti A.K., Bartoloni L., Rossier C., Blouin J.-L., Antonarakis S.E.
      Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. "Identification of single nucleotide polymorphisms in FOXJ1 and their association with allergic rhinitis."
      Li C.-S., Chae S.-C., Lee J.-H., Zhang Q., Chung H.-T.
      J. Hum. Genet. 51:292-297(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ALRH.

    Entry informationi

    Entry nameiFOXJ1_HUMAN
    AccessioniPrimary (citable) accession number: Q92949
    Secondary accession number(s): O00630
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 124 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3