Forkhead box protein J1

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• DNA binding Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#nas">GO evidence code guide</a></p> Non-traceable author statementⁱ
  • Ref.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].
• DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKB
• DNA-binding transcription factor activity Source: UniProtKBNon-traceable author statementⁱ
  • Ref.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].
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• transcription regulatory region sequence-specific DNA binding Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "The winged helix transcription factor HFH-4 is expressed during choroid plexus epithelial development in the mouse embryo."
    Lim L., Zhou H., Costa R.H.
    Proc. Natl. Acad. Sci. U.S.A. 94:3094-3099(1997) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• actin cytoskeleton organization Source: BHF-UCL
• activation of GTPase activity Source: BHF-UCL
• axoneme assembly Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • Ref.6

    "De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry."
    Wallmeier J., Frank D., Shoemark A., Noethe-Menchen T., Cindric S., Olbrich H., Loges N.T., Aprea I., Dougherty G.W., Pennekamp P., Kaiser T., Mitchison H.M., Hogg C., Carr S.B., Zariwala M.A., Ferkol T., Leigh M.W., Davis S.D.

    , Atkinson J., Dutcher S.K., Knowles M.R., Thiele H., Altmueller J., Krenz H., Woeste M., Brentrup A., Ahrens F., Vogelberg C., Morris-Rosendahl D.J., Omran H.
    Am. J. Hum. Genet. 105:1030-1039(2019) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, CHARACTERIZATION OF VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, FUNCTION.
• brain development Source: BHF-UCL <p>Inferred from Sequence or Structural Similarity<br />Used for any analysis based on sequence alignment, structure comparison, or evaluation of sequence features such as composition.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iss">GO evidence code guide</a></p> Inferred from sequence or structural similarityⁱ
  • Ref.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].
• cellular protein localization Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.6

    "De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry."
    Wallmeier J., Frank D., Shoemark A., Noethe-Menchen T., Cindric S., Olbrich H., Loges N.T., Aprea I., Dougherty G.W., Pennekamp P., Kaiser T., Mitchison H.M., Hogg C., Carr S.B., Zariwala M.A., Ferkol T., Leigh M.W., Davis S.D.

    , Atkinson J., Dutcher S.K., Knowles M.R., Thiele H., Altmueller J., Krenz H., Woeste M., Brentrup A., Ahrens F., Vogelberg C., Morris-Rosendahl D.J., Omran H.
    Am. J. Hum. Genet. 105:1030-1039(2019) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, CHARACTERIZATION OF VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, FUNCTION.
• central tolerance induction Source: BHF-UCL
• ciliary basal body organization Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.6

    "De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry."
    Wallmeier J., Frank D., Shoemark A., Noethe-Menchen T., Cindric S., Olbrich H., Loges N.T., Aprea I., Dougherty G.W., Pennekamp P., Kaiser T., Mitchison H.M., Hogg C., Carr S.B., Zariwala M.A., Ferkol T., Leigh M.W., Davis S.D.

    , Atkinson J., Dutcher S.K., Knowles M.R., Thiele H., Altmueller J., Krenz H., Woeste M., Brentrup A., Ahrens F., Vogelberg C., Morris-Rosendahl D.J., Omran H.
    Am. J. Hum. Genet. 105:1030-1039(2019) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, CHARACTERIZATION OF VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, FUNCTION.
• cilium assembly Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.6

    "De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry."
    Wallmeier J., Frank D., Shoemark A., Noethe-Menchen T., Cindric S., Olbrich H., Loges N.T., Aprea I., Dougherty G.W., Pennekamp P., Kaiser T., Mitchison H.M., Hogg C., Carr S.B., Zariwala M.A., Ferkol T., Leigh M.W., Davis S.D.

    , Atkinson J., Dutcher S.K., Knowles M.R., Thiele H., Altmueller J., Krenz H., Woeste M., Brentrup A., Ahrens F., Vogelberg C., Morris-Rosendahl D.J., Omran H.
    Am. J. Hum. Genet. 105:1030-1039(2019) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, CHARACTERIZATION OF VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, FUNCTION.
• determination of left/right symmetry Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.6

    "De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry."
    Wallmeier J., Frank D., Shoemark A., Noethe-Menchen T., Cindric S., Olbrich H., Loges N.T., Aprea I., Dougherty G.W., Pennekamp P., Kaiser T., Mitchison H.M., Hogg C., Carr S.B., Zariwala M.A., Ferkol T., Leigh M.W., Davis S.D.

    , Atkinson J., Dutcher S.K., Knowles M.R., Thiele H., Altmueller J., Krenz H., Woeste M., Brentrup A., Ahrens F., Vogelberg C., Morris-Rosendahl D.J., Omran H.
    Am. J. Hum. Genet. 105:1030-1039(2019) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, CHARACTERIZATION OF VARIANTS CILD43 276-GLN--LEU-421 DEL AND 301-GLU--LEU-421 DEL, FUNCTION.
• epithelium development Source: BHF-UCLInferred from sequence or structural similarityⁱ
  • Ref.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].
• establishment of apical/basal cell polarity Source: BHF-UCL
• glomerular parietal epithelial cell development Source: BHF-UCL <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • Ref.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].
• heart development Source: Ensembl
• humoral immune response Source: BHF-UCL
• left/right pattern formation Source: Ensembl
• leukocyte migration Source: BHF-UCL
• lung epithelium development Source: BHF-UCLInferred from expression patternⁱ
  • Ref.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].
• metanephric part of ureteric bud development Source: BHF-UCLInferred from expression patternⁱ
  • Ref.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].
• motile cilium assembly Source: Ensembl
• negative regulation of B cell activation Source: BHF-UCL
• negative regulation of germinal center formation Source: BHF-UCL
• negative regulation of humoral immune response mediated by circulating immunoglobulin Source: BHF-UCL
• negative regulation of interleukin-6 production Source: BHF-UCL
• negative regulation of NF-kappaB transcription factor activity Source: BHF-UCL
• negative regulation of T cell differentiation in thymus Source: BHF-UCL
• negative regulation of T cell proliferation Source: Ensembl
• negative regulation of transcription by RNA polymerase II Source: BHF-UCL
• pattern specification process Source: BHF-UCL
• positive regulation of central B cell tolerance induction Source: BHF-UCL
• positive regulation of lung ciliated cell differentiation Source: BHF-UCLInferred from direct assayⁱ
  • "Goblet cells are derived from a FOXJ1-expressing progenitor in a human airway epithelium."
    Turner J., Roger J., Fitau J., Combe D., Giddings J., Heeke G.V., Jones C.E.
    Am J Respir Cell Mol Biol 44:276-284(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription by RNA polymerase II Source: BHF-UCLInferred from direct assayⁱ
  • "The winged helix transcription factor HFH-4 is expressed during choroid plexus epithelial development in the mouse embryo."
    Lim L., Zhou H., Costa R.H.
    Proc. Natl. Acad. Sci. U.S.A. 94:3094-3099(1997) [PubMed] [Europe PMC] [Abstract]
• regulation of transcription by RNA polymerase II Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• spermatogenesis Source: UniProtKBNon-traceable author statementⁱ
  • Ref.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].

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

• UniProt annotation
• GO - Cellular component

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stageⁱ

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MAESWLRLSG AGPAEEAGPE GGLEEPDALD DSLTSLQWLQ EFSILNAKAP 
        60         70         80         90        100
ALPPGGTDPH GYHQVPGSAA PGSPLAADPA CLGQPHTPGK PTSSCTSRSA 
       110        120        130        140        150
PPGLQAPPPD DVDYATNPHV KPPYSYATLI CMAMQASKAT KITLSAIYKW 
       160        170        180        190        200
ITDNFCYFRH ADPTWQNSIR HNLSLNKCFI KVPREKDEPG KGGFWRIDPQ 
       210        220        230        240        250
YAERLLSGAF KKRRLPPVHI HPAFARQAAQ EPSAVPRAGP LTVNTEAQQL 
       260        270        280        290        300
LREFEEATGE AGWGAGEGRL GHKRKQPLPK RVAKVPRPPS TLLPTPEEQG 
       310        320        330        340        350
ELEPLKGNFD WEAIFDAGTL GGELGALEAL ELSPPLSPAS HVDVDLTIHG 
       360        370        380        390        400
RHIDCPATWG PSVEQAADSL DFDETFLATS FLQHPWDESG SGCLPPEPLF 
       410        420 
EAGDATLASD LQDWASVGAF L                                

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

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