FOXI1

FOXI1
Identifiers
Aliases	FOXI1, FKH10, FKHL10, FREAC-6, FREAC6, HFH-3, HFH3, forkhead box I1
External IDs	MGI: 1096329 HomoloGene: 8140 GeneCards: FOXI1
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcription regulatory region DNA binding • sequence-specific DNA binding • DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • DNA binding, bending Cellular component • nucleus Biological process • positive regulation of transcription, DNA-templated • regulation of transcription, DNA-templated • inner ear morphogenesis • transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • embryo development • transcription from RNA polymerase II promoter 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_036320.2 NP_658982.1	NP_076396.3
Location (UCSC)	Chr 5: 170.11 – 170.11 Mb	Chr 11: 34.2 – 34.21 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

Forkhead box I1 is a protein that in humans is encoded by the FOXI1 gene.^[3]

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. wo transcript variants encoding different isoforms have been found for this gene.^[3]

Clinical significance

Mutations in this gene are associated with enlarged vestibular aqueduct.^[4]

See also

• FOX proteins

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: Forkhead box I1". Retrieved 2011-12-24.
4. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ (June 2007). "Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)". American Journal of Human Genetics. 80 (6): 1055–63. doi:10.1086/518314. PMC 1867094. PMID 17503324.

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.
• 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. 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: 267. 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. 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. 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.