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FOXF1 forkhead box F1 [ Homo sapiens (human) ]

Gene ID: 2294, updated on 24-May-2020

Summary

Official Symbol
FOXF1provided by HGNC
Official Full Name
forkhead box F1provided by HGNC
Primary source
HGNC:HGNC:3809
See related
Ensembl:ENSG00000103241 MIM:601089
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
FKHL5; ACDMPV; FREAC1
Summary
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
Expression
Biased expression in lung (RPKM 22.1), urinary bladder (RPKM 21.5) and 12 other tissues See more
Orthologs

Genomic context

See FOXF1 in Genome Data Viewer
Location:
16q24.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (86510527..86515422)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86544133..86548070)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chloride intracellular channel 1 pseudogene Neighboring gene FOXF1 adjacent non-coding developmental regulatory RNA Neighboring gene ribosomal protein L7a pseudogene 63 Neighboring gene methenyltetrahydrofolate synthetase domain containing Neighboring gene uncharacterized protein FLJ30679

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

Associated conditions

Description Tests
Persistent fetal circulation syndrome
MedGen: C0031190 OMIM: 265380 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-06-20)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-06-20)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
NHGRI GWA Catalog
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
NHGRI GWA Catalog
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
NHGRI GWA Catalog
Identification of a candidate gene for astigmatism.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC105125

Gene Ontology Provided by GOA

Process Evidence Code Pubs
blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac left ventricle morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular response to cytokine stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
detection of wounding IEA
Inferred from Electronic Annotation
more info
 
determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
digestive tract development IMP
Inferred from Mutant Phenotype
more info
PubMed 
ductus arteriosus closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic digestive tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic ectodermal digestive tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic foregut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endocardial cushion development IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell differentiation involved in mammary gland alveolus development IEA
Inferred from Electronic Annotation
more info
 
epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
establishment of epithelial cell apical/basal polarity IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
lateral mesodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
lung lobe morphogenesis IEA
Inferred from Electronic Annotation
more info
 
lung vasculature development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mesenchyme migration IEA
Inferred from Electronic Annotation
more info
 
midgut development IMP
Inferred from Mutant Phenotype
more info
PubMed 
morphogenesis of a branching structure IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mast cell degranulation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
pancreas development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
respiratory tube development IMP
Inferred from Mutant Phenotype
more info
PubMed 
right lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
trachea development IMP
Inferred from Mutant Phenotype
more info
PubMed 
ureter development IMP
Inferred from Mutant Phenotype
more info
PubMed 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
venous blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 
transcription factor complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
forkhead box protein F1
Names
FREAC-1
Forkhead, drosophila, homolog-like 5
forkhead-related activator 1
forkhead-related protein FKHL5
forkhead-related transcription factor 1

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_016273.1 RefSeqGene

    Range
    5001..9896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001451.3NP_001442.2  forkhead box protein F1

    See identical proteins and their annotated locations for NP_001442.2

    Status: REVIEWED

    Source sequence(s)
    AC009108, BC089442, CA438612, DB011539
    Consensus CDS
    CCDS10957.2
    UniProtKB/Swiss-Prot
    Q12946
    Related
    ENSP00000262426.4, ENST00000262426.6
    Conserved Domains (1) summary
    smart00339
    Location:48136
    FH; FORKHEAD

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    86510527..86515422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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