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Aliases for FOXI1 Gene

Aliases for FOXI1 Gene

  • Forkhead Box I1 2 3 5
  • Hepatocyte Nuclear Factor 3 Forkhead Homolog 3 3 4
  • Forkhead-Related Transcription Factor 6 3 4
  • Forkhead-Related Protein FKHL10 3 4
  • FREAC-6 3 4
  • FKHL10 3 4
  • FREAC6 3 4
  • HFH-3 3 4
  • Forkhead-Related Activator 6 3
  • HNF-3/Fork-Head Homolog-3 3
  • HNF-3/Fork-Head Homolog 3 4
  • Forkhead Box Protein I1 3
  • Forkhead-Like 10 3
  • FKH10 3
  • HFH3 3

External Ids for FOXI1 Gene

Previous HGNC Symbols for FOXI1 Gene

  • FKHL10

Previous GeneCards Identifiers for FOXI1 Gene

  • GC05P169768
  • GC05P170236
  • GC05P169468
  • GC05P169513
  • GC05P169465
  • GC05P164630
  • GC05P169532

Summaries for FOXI1 Gene

Entrez Gene Summary for FOXI1 Gene

  • 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]

GeneCards Summary for FOXI1 Gene

FOXI1 (Forkhead Box I1) is a Protein Coding gene. Diseases associated with FOXI1 include Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct and Pendred Syndrome. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is FOXI3.

UniProtKB/Swiss-Prot for FOXI1 Gene

  • 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).

Gene Wiki entry for FOXI1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXI1 Gene

Genomics for FOXI1 Gene

Regulatory Elements for FOXI1 Gene

Enhancers for FOXI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G170132 0.7 ENCODE dbSUPER 21.3 +27.0 26960 1.0 JUND JUN FOS FOXI1 CTD-2270F17.1 KCNMB1 KRT18P41
GH05G170143 0.6 dbSUPER 21.8 +39.0 38969 2.5 FOSL1 RAD51 GATA3 L3MBTL2 ZSCAN4 USF2 FOS FOXI1 KRT18P41 LINC01187
GH05G170100 1.1 Ensembl ENCODE dbSUPER 11.4 -5.3 -5262 0.9 CTCF ZNF654 WRNIP1 SMC3 CEBPB CEBPG REST RAD21 FOXI1 MIR378E
GH05G170150 1.5 Ensembl ENCODE dbSUPER 6.5 +45.6 45617 1.9 PKNOX1 ATF1 ARNT E2F7 TCF12 ZNF766 ELK1 GATA2 FOS JUNB FOXI1 KRT18P41 LINC01187
GH05G170120 0.9 ENCODE dbSUPER 9.3 +15.1 15081 1.5 GTF2F1 CTCF ZNF654 MAFG USF2 ZIC2 RAD21 OSR2 SREBF1 RAD51 CTD-2270F17.1 KCNMB1 FOXI1 KRT18P41
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FOXI1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FOXI1 Gene

Chromosome:
5
Start:
170,105,897 bp from pter
End:
170,109,725 bp from pter
Size:
3,829 bases
Orientation:
Plus strand

Genomic View for FOXI1 Gene

Genes around FOXI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXI1 Gene

Proteins for FOXI1 Gene

  • Protein details for FOXI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12951-FOXI1_HUMAN
    Recommended name:
    Forkhead box protein I1
    Protein Accession:
    Q12951
    Secondary Accessions:
    • Q14518
    • Q66SR7
    • Q8N6L8

    Protein attributes for FOXI1 Gene

    Size:
    378 amino acids
    Molecular mass:
    40973 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB50574.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAU12169.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FOXI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FOXI1 Gene

Post-translational modifications for FOXI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FOXI1 Gene

Domains & Families for FOXI1 Gene

Gene Families for FOXI1 Gene

Protein Domains for FOXI1 Gene

Suggested Antigen Peptide Sequences for FOXI1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FOXI1: view

No data available for UniProtKB/Swiss-Prot for FOXI1 Gene

Function for FOXI1 Gene

Molecular function for FOXI1 Gene

GENATLAS Biochemistry:
transcription factor-like 10,with a Drosophila homeo forkhead DNA binding domain homolog
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for FOXI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 19214237
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 19214237
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 19214237
GO:0008301 DNA binding, bending NAS 7957066
genes like me logo Genes that share ontologies with FOXI1: view
genes like me logo Genes that share phenotypes with FOXI1: view

Human Phenotype Ontology for FOXI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXI1 Gene

MGI Knock Outs for FOXI1:

Animal Model Products

CRISPR Products

miRNA for FOXI1 Gene

miRTarBase miRNAs that target FOXI1

Transcription Factor Targets for FOXI1 Gene

Selected GeneGlobe predicted Target genes for FOXI1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for FOXI1 Gene

Localization for FOXI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXI1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXI1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for FOXI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IC 19214237
GO:0005730 nucleolus IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with FOXI1: view

Pathways & Interactions for FOXI1 Gene

SuperPathways for FOXI1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FOXI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0009790 embryo development NAS 7957066
GO:0042472 inner ear morphogenesis IEA --
genes like me logo Genes that share ontologies with FOXI1: view

No data available for Pathways by source and SIGNOR curated interactions for FOXI1 Gene

Transcripts for FOXI1 Gene

mRNA/cDNA for FOXI1 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXI1 Gene

Forkhead box I1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FOXI1 Gene

No ASD Table

Relevant External Links for FOXI1 Gene

GeneLoc Exon Structure for
FOXI1
ECgene alternative splicing isoforms for
FOXI1

Expression for FOXI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FOXI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXI1 Gene

This gene is overexpressed in Kidney - Cortex (x35.9) and Minor Salivary Gland (x5.5).

NURSA nuclear receptor signaling pathways regulating expression of FOXI1 Gene:

FOXI1

SOURCE GeneReport for Unigene cluster for FOXI1 Gene:

Hs.87236

mRNA Expression by UniProt/SwissProt for FOXI1 Gene:

Q12951-FOXI1_HUMAN
Tissue specificity: Expressed in kidney.

Evidence on tissue expression from TISSUES for FOXI1 Gene

  • Kidney(4.4)
  • Intestine(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXI1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • hypothalamus
  • inner ear
  • neck
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • uterus
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with FOXI1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for FOXI1 Gene

Orthologs for FOXI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXI1 34 35
  • 99.03 (n)
dog
(Canis familiaris)
Mammalia FOXI1 34 35
  • 89.57 (n)
cow
(Bos Taurus)
Mammalia FOXI1 34 35
  • 86.04 (n)
rat
(Rattus norvegicus)
Mammalia Foxi1 34
  • 84.64 (n)
mouse
(Mus musculus)
Mammalia Foxi1 34 16 35
  • 84.01 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXI1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FOXI1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXI1 34 35
  • 69.16 (n)
lizard
(Anolis carolinensis)
Reptilia FOXI1 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxi1 34
  • 66.93 (n)
MGC75815 34
African clawed frog
(Xenopus laevis)
Amphibia foxi1-prov 34
zebrafish
(Danio rerio)
Actinopterygii foxi3b 34 35
  • 60.5 (n)
foxi3a 35
  • 54 (a)
OneToMany
foxi2 35
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta croc 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 17 (a)
ManyToMany
Species where no ortholog for FOXI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FOXI1 Gene

ENSEMBL:
Gene Tree for FOXI1 (if available)
TreeFam:
Gene Tree for FOXI1 (if available)

Paralogs for FOXI1 Gene

(9) SIMAP similar genes for FOXI1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FOXI1: view

Variants for FOXI1 Gene

Sequence variations from dbSNP and Humsavar for FOXI1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121909340 Pathogenic 170,108,247(+) ACCAG(A/G)GGGCA intron-variant, downstream-variant-500B, reference, missense
rs121909341 Pathogenic 170,108,274(+) GAAGC(A/G)GCCCT intron-variant, downstream-variant-500B, reference, missense
rs2277944 Likely benign 170,106,236(+) CAGAG(A/G)CCGCT nc-transcript-variant, reference, synonymous-codon
rs35678180 Likely benign 170,108,200(-) TTGGG(A/G)CTGTC intron-variant, downstream-variant-500B, reference, synonymous-codon
rs35964510 Likely benign 170,109,549(+) TTTTT(-/C/T)AGCCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FOXI1 Gene

Variant ID Type Subtype PubMed ID
nsv830547 CNV gain+loss 17160897

Variation tolerance for FOXI1 Gene

Residual Variation Intolerance Score: 40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FOXI1 Gene

Human Gene Mutation Database (HGMD)
FOXI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXI1 Gene

Disorders for FOXI1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for FOXI1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
  • enlarged vestibular aqueduct, digenic
pendred syndrome
  • congenital hypothyroidism due to dyshormonogenesis 2b
foxi1-related pendred syndrome
pendred syndrome/dfnb4
  • autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct,goiter
dyshormonogenic goiter
- elite association - COSMIC cancer census association via MalaCards
Search FOXI1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FOXI1

Genetic Association Database (GAD)
FOXI1
Human Genome Epidemiology (HuGE) Navigator
FOXI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FOXI1
genes like me logo Genes that share disorders with FOXI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FOXI1 Gene

Publications for FOXI1 Gene

  1. The winged helix transcriptional activator HFH-3 is expressed in the distal tubules of embryonic and adult mouse kidney. (PMID: 9153225) Overdier D.G. … Costa R.H. (J. Biol. Chem. 1997) 3 4 22 64
  2. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. (PMID: 7957066) Pierrou S. … Carlsson P. (EMBO J. 1994) 2 3 4 64
  3. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. (PMID: 20621367) Jonard L. … Marlin S. (Int. J. Pediatr. Otorhinolaryngol. 2010) 3 46 64
  4. Candidate gene analysis in primary lymphedema. (PMID: 18564921) Ferrell R.E. … Finegold D.N. (Lymphat Res Biol 2008) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for FOXI1 Gene

Sources for FOXI1 Gene

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