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)[1] Band 5q35.1 Start 170,105,897 bp[1] End 170,109,734 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 A4|11 19.65 cM Start 34,154,338 bp[2] End 34,158,089 bp[2]
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 [3] [4]
Wikidata
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Forkhead box I1 is a protein that in humans is encoded by the FOXI1 gene.^[5]

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.^[5]

Mutations in this gene are associated with enlarged vestibular aqueduct.^[6]

• FOX proteins

• 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.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

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