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FOXI1 forkhead box I1 [ Homo sapiens (human) ]

Gene ID: 2299, updated on 13-Feb-2019

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
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

Genomic context

See FOXI1 in Genome Data Viewer
Location:
5q35.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (170105897..170109725)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (169532917..169536729)

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 microRNA 378e 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34197

Gene Ontology Provided by GOA

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

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
    5001..8813
    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
    UniProtKB/TrEMBL
    E0XEN6
    Related
    ENSP00000304286.5, ENST00000306268.7
    Conserved Domains (1) summary
    smart00339
    Location:123211
    FH; FORKHEAD
  2. NM_144769.2NP_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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    170105897..170109725
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_941092.1 RNA Sequence

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