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forkhead box protein I1; forkhead-related transcription factor 6; FREAC-6; drosophila forkhead homolog-like 10 (FREAC6, FOXI1)
Function:
- transcriptional activator required for the development of normal hearing, sense of balance & kidney function
- required for expression of SLC26A4/PDS, JAG1 & COCH in a subset of epithelial cells & the development of the endolymphatic system in the inner ear
- required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 & the differentiation of intercalated cells in the epithelium of distal renal tubules
Structure: contains 1 fork-head DNA-binding domain
Compartment: nucleus
Alternative splicing: named isoforms=2
Expression: expressed in kidney
General
forkhead family transcription factor
Properties
SIZE: MW = 41 kD
entity length = 378 aa
COMPARTMENT: cell nucleus
MOTIF: proline-rich region
SITE: 7-97
MOTIF: proline residue (SEVERAL)
fork head domain
NAME: fork head domain
SITE: 123-217
Database Correlations
OMIM 601093
MORBIDMAP 601093
UniProt Q12951
Entrez Gene 2299
References
- Entrez Gene :accession 2299
- UniProt :accession Q12951