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    FOXI1 forkhead box I1 [ Homo sapiens (human) ]

    Gene ID: 2299, updated on 9-Dec-2024

    Summary

    Official Symbol
    FOXI1provided by HGNC
    Official Full Name
    forkhead box I1provided by HGNC
    Primary source
    HGNC:HGNC:3815
    See related
    Ensembl:ENSG00000168269 MIM:601093; AllianceGenome:HGNC:3815
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HFH3; FKH10; HFH-3; FKHL10; FREAC6; FREAC-6
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 10.3), salivary gland (RPKM 2.7) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FOXI1 in Genome Data Viewer
    Location:
    5q35.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (170105897..170109737)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (170644375..170648215)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (169532901..169536741)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 2 Neighboring gene inhibitory synaptic factor family member 2B Neighboring gene NANOG hESC enhancer GRCh37_chr5:169334064-169334793 Neighboring gene Sharpr-MPRA regulatory region 8772 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:169403516-169404715 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:169407449-169408187 Neighboring gene microRNA 378e Neighboring gene NANOG hESC enhancer GRCh37_chr5:169536441-169536994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:169581531-169582061 Neighboring gene keratin 18 pseudogene 41 Neighboring gene long intergenic non-protein coding RNA 1187

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC34197

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryo development ending in birth or egg hatching NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    forkhead box protein I1
    Names
    HNF-3/fork-head homolog-3
    forkhead-like 10
    forkhead-related activator 6
    forkhead-related protein FKHL10
    forkhead-related transcription factor 6
    hepatocyte nuclear factor 3 forkhead homolog 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012068.2 RefSeqGene

      Range
      4985..8822
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012188.5NP_036320.2  forkhead box protein I1 isoform a

      See identical proteins and their annotated locations for NP_036320.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC008660, BC029778
      Consensus CDS
      CCDS4372.1
      UniProtKB/Swiss-Prot
      Q12951, Q14518, Q66SR7, Q8N6L8
      UniProtKB/TrEMBL
      A8K811, E0XEN6, E0XEY9
      Related
      ENSP00000304286.5, ENST00000306268.8
      Conserved Domains (1) summary
      smart00339
      Location:123211
      FH; FORKHEAD
    2. NM_144769.4NP_658982.1  forkhead box protein I1 isoform b

      See identical proteins and their annotated locations for NP_658982.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame coding segment compared to variant 1, resulting in an isoform (b) that lacks an internal portion compared to isoform a.
      Source sequence(s)
      AC008660, BC029778
      Consensus CDS
      CCDS47337.1
      UniProtKB/Swiss-Prot
      Q12951
      Related
      ENSP00000415483.2, ENST00000449804.4
      Conserved Domains (1) summary
      pfam00250
      Location:123191
      Forkhead; Forkhead domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      170105897..170109737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_941092.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      170644375..170648215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487100.1 RNA Sequence