FOXJ1
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| Location (UCSC) | Chr 17: 76.14 – 76.14 Mb | Chr 11: 116.22 – 116.23 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Forkhead box protein J1 is a protein that in humans is encoded by the FOXJ1 gene.[5] It is a member of the Forkhead/winged helix (FOX) family of transcription factors that is involved in ciliogenesis.[6] FOXJ1 is expressed in ciliated cells of the lung,[7] choroid plexus,[8] reproductive tract,[9] embryonic kidney and pre-somite embryo stage.[10]
Gene Location
The human FOXJ1 gene is located on the long arm of chromosome 17, region 2, band 5, sub-band 1.[11]
Structure
FOXJ1 has a conserved 100 amino acid long DNA binding domain.[12]
Function
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.[5]
Ciliogenesis
Primary
Immune system
In mammalian cells, FOXJ1 has been shown to suppress
Development
FOXJ1 is expressed at various points during embryonic development in relation to teeth germination, enamel, oral and tongue epithelium formation, and formation of sub-mandibular salivary glands and hair follicles.[18] Absence of FOXJ1 expression decreases calpastatin, an inhibitor of the protease calpain. Calpain dysregulation affects basal body anchoring to the apical cytoskeleton affecting axeonemal formation.[19] Expression of FOXJ1 is inhibited by IL-13.[20]
Clinical significance
Polymorphisms in this gene are associated with
Viral infections of the respiratory system have been found to lower the expression of FOXJ1. This affects ciliogenesis and impacts mucocillary action.[21]
Breast cancer
Studies into human breast tissue lines and primary breast tumors have observed that the gene FOXJ1 are aberrantly hypermethylated in primary tumors. This hypermethylation serves to silence production of the FOXJ1 protein and has been proposed as a potentially important event in tumor formation.[22]
Clear renal cell carcinoma
FOXJ1 expression has been shown to be elevated in clear cell renal carcinoma patients and indicative of tumor stage, histological grade and tumor size. High expression of FOXJ1 in CRCC patients was associated with poor prognosis. There is potential for FOXJ1 to act as an oncogene marker for CRCC patients and has value as a therapeutic target.[23]
Axenfeld–Rieger syndrome
Hydrocephalus
Mutations in this gene have been associated with an autosomal dominant syndrome that includes hydrocephalus and randomization of left/right body asymmetry.[25]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000129654 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034227 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: forkhead box J1".
- S2CID 205347068.
- PMID 10423398.
- PMID 9096351.
- PMID 7753791.
- PMID 9530170.
- PMID 20650821.
- PMID 7683413.
- PMID 20118219.
- S2CID 17661686.
- PMID 26947080.
- S2CID 85412475.
- PMID 16002694.
- PMID 18723525.
- PMID 14996907.
- PMID 17541011.
- PMID 11733356.
- PMID 18836996.
- PMID 26622696.
- PMID 18723525.
- PMID 31630787.
Further reading
- Li CS, Zhang Q, Lim MK, Sheen DH, Shim SC, Kim JY, Lee SS, Yun KJ, Moon HB, Chung HT, Chae SC (December 2007). "Association of FOXJ1 polymorphisms with systemic lupus erythematosus and rheumatoid arthritis in Korean population". Experimental & Molecular Medicine. 39 (6): 805–11. PMID 18160851.
- Li CS, Chae SC, Lee JH, Zhang Q, Chung HT (2006). "Identification of single nucleotide polymorphisms in FOXJ1 and their association with allergic rhinitis". Journal of Human Genetics. 51 (4): 292–7. PMID 16518568.
- Turner J, Roger J, Fitau J, Combe D, Giddings J, Heeke GV, Jones CE (March 2011). "Goblet cells are derived from a FOXJ1-expressing progenitor in a human airway epithelium". American Journal of Respiratory Cell and Molecular Biology. 44 (3): 276–84. PMID 20539013.
- Murphy DB, Seemann S, Wiese S, Kirschner R, Grzeschik KH, Thies U (March 1997). "The human hepatocyte nuclear factor 3/fork head gene FKHL13: genomic structure and pattern of expression". Genomics. 40 (3): 462–9. PMID 9073514.
- Maiti AK, Bartoloni L, Mitchison HM, Meeks M, Chung E, Spiden S, Gehrig C, Rossier C, DeLozier-Blanchet CD, Blouin J, Gardiner RM, Antonarakis SE (2000). "No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)". Cytogenetics and Cell Genetics. 90 (1–2): 119–22. S2CID 21880343.
- LeSimple P, van Seuningen I, Buisine MP, Copin MC, Hinz M, Hoffmann W, Hajj R, Brody SL, Coraux C, Puchelle E (March 2007). "Trefoil factor family 3 peptide promotes human airway epithelial ciliated cell differentiation". American Journal of Respiratory Cell and Molecular Biology. 36 (3): 296–303. PMID 17008636.
- Lim L, Zhou H, Costa RH (April 1997). "The winged helix transcription factor HFH-4 is expressed during choroid plexus epithelial development in the mouse embryo". Proceedings of the National Academy of Sciences of the United States of America. 94 (7): 3094–9. PMID 9096351.
- Pelletier GJ, Brody SL, Liapis H, White RA, Hackett BP (March 1998). "A human forkhead/winged-helix transcription factor expressed in developing pulmonary and renal epithelium". The American Journal of Physiology. 274 (3 Pt 1): L351–9. PMID 9530170.
- Wu C, Ma MH, Brown KR, Geisler M, Li L, Tzeng E, Jia CY, Jurisica I, Li SS (June 2007). "Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening". Proteomics. 7 (11): 1775–85. S2CID 22474278.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.