FOXI1

FOXI1
Identifiers
Aliases	FOXI1, FKH10, FKHL10, FREAC-6, FREAC6, HFH-3, HFH3, forkhead box I1
External IDs	OMIM: 601093; MGI: 1096329; HomoloGene: 8140; GeneCards: FOXI1; OMA:FOXI1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q35.1 Start 170,105,897 bp End 170,109,734 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 A4|11 19.65 cM Start 34,154,338 bp End 34,158,089 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in human kidney olfactory zone of nasal mucosa minor salivary glands skin of leg renal medulla skin of abdomen tonsil mucosa of transverse colon mammary gland lactiferous gland Top expressed in humerus Meckel's cartilage right kidney connecting tubule sphenoid bone submandibular gland basisphenoid rib human kidney basilar part of occipital bone More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding sequence-specific DNA binding DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA binding, bending DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleolus intracellular membrane-bounded organelle Biological process positive regulation of transcription, DNA-templated regulation of transcription, DNA-templated inner ear morphogenesis transcription, DNA-templated positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II anatomical structure morphogenesis cell differentiation embryo development ending in birth or egg hatching regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2299 14233 Ensembl ENSG00000168269 ENSMUSG00000047861 UniProt Q12951 Q922I5 RefSeq (mRNA) NM_012188 NM_144769 NM_023907 RefSeq (protein) NP_036320 NP_658982 NP_076396 Location (UCSC) Chr 5: 170.11 – 170.11 Mb Chr 11: 34.15 – 34.16 Mb PubMed search
Wikidata
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Forkhead box I1 is a protein that in humans is encoded by the FOXI1 gene.

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. Two transcript variants encoding different isoforms have been found for this gene.

Clinical significance

Mutations in this gene are associated with enlarged vestibular aqueduct.

See also

• FOX proteins

Further reading

• Rodríguez-Antona C, Bort R, Jover R, Tindberg N, Ingelman-Sundberg M, Gómez-Lechón MJ, Castell JV (May 2003). "Transcriptional regulation of human CYP3A4 basal expression by CCAAT enhancer-binding protein alpha and hepatocyte nuclear factor-3 gamma". Molecular Pharmacology. 63 (5): 1180–9. doi:10.1124/mol.63.5.1180. PMID 12695546. S2CID 34628968.
• Ferrell RE, Kimak MA, Lawrence EC, Finegold DN (2008). "Candidate gene analysis in primary lymphedema". Lymphatic Research and Biology. 6 (2): 69–76. doi:10.1089/lrb.2007.1022. PMID 18564921.
• Vidarsson H, Westergren R, Heglind M, Blomqvist SR, Breton S, Enerbäck S (2009). Callaerts P (ed.). "The forkhead transcription factor Foxi1 is a master regulator of vacuolar H-ATPase proton pump subunits in the inner ear, kidney and epididymis". PLOS ONE. 4 (2): e4471. Bibcode:2009PLoSO...4.4471V. doi:10.1371/journal.pone.0004471. PMC 2637605. PMID 19214237.
• Jonard L, Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T, Thuillier-Obstoy MF, Couderc R, Garabédian EN, Denoyelle F, Marlin S (September 2010). "Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct". International Journal of Pediatric Otorhinolaryngology. 74 (9): 1049–53. doi:10.1016/j.ijporl.2010.06.002. PMID 20621367.
• Moreno-Estrada A, Aparicio-Prat E, Sikora M, Engelken J, Ramírez-Soriano A, Calafell F, Bosch E (2010). "African signatures of recent positive selection in human FOXI1". BMC Evolutionary Biology. 10 (1): 267. Bibcode:2010BMCEE..10..267M. doi:10.1186/1471-2148-10-267. PMC 2939579. PMID 20809947.
• Clevidence DE, Overdier DG, Tao W, Qian X, Pani L, Lai E, Costa RH (May 1993). "Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3/forkhead DNA-binding-domain family". Proceedings of the National Academy of Sciences of the United States of America. 90 (9): 3948–52. Bibcode:1993PNAS...90.3948C. doi:10.1073/pnas.90.9.3948. PMC 46423. PMID 7683413.
• Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P (October 1994). "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending". The EMBO Journal. 13 (20): 5002–12. doi:10.1002/j.1460-2075.1994.tb06827.x. PMC 395442. PMID 7957066.
• Larsson C, Hellqvist M, Pierrou S, White I, Enerbäck S, Carlsson P (December 1995). "Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)". Genomics. 30 (3): 464–9. doi:10.1006/geno.1995.1266. PMID 8825632.
• Overdier DG, Ye H, Peterson RS, Clevidence DE, Costa RH (May 1997). "The winged helix transcriptional activator HFH-3 is expressed in the distal tubules of embryonic and adult mouse kidney". The Journal of Biological Chemistry. 272 (21): 13725–30. doi:10.1074/jbc.272.21.13725. PMID 9153225.

External links

• GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4

This article incorporates text from the United States National Library of Medicine, which is in the public domain.