Human Gene FOXI1 (uc003mai.4) Description and Page Index
Description: Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA. RefSeq Summary (NM_012188): This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]. Transcript (Including UTRs) Position: hg19 chr5:169,532,917-169,536,729 Size: 3,813 Total Exon Count: 2 Strand: + Coding Region Position: hg19 chr5:169,532,962-169,535,615 Size: 2,654 Coding Exon Count: 2
ID:FOXI1_HUMAN DESCRIPTION: RecName: Full=Forkhead box protein I1; AltName: Full=Forkhead-related protein FKHL10; AltName: Full=Forkhead-related transcription factor 6; Short=FREAC-6; AltName: Full=Hepatocyte nuclear factor 3 forkhead homolog 3; Short=HFH-3; Short=HNF-3/fork-head homolog 3; FUNCTION: Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity). SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in kidney. SIMILARITY: Contains 1 fork-head DNA-binding domain. SEQUENCE CAUTION: Sequence=AAB50574.1; Type=Erroneous initiation; Sequence=AAU12169.1; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): FOXI1 CDC HuGE Published Literature: FOXI1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q12951
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0008301 DNA binding, bending GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0009653 anatomical structure morphogenesis GO:0009792 embryo development ending in birth or egg hatching GO:0030154 cell differentiation GO:0042472 inner ear morphogenesis GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter