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Aliases for FOXF1 Gene

Aliases for FOXF1 Gene

  • Forkhead Box F1 2 3
  • FKHL5 3 4 6
  • Forkhead-Related Transcription Factor 1 3 4
  • Forkhead-Related Protein FKHL5 3 4
  • Forkhead-Related Activator 1 3 4
  • FREAC-1 3 4
  • ACDMPV 3 6
  • FREAC1 3 4
  • Forkhead, Drosophila, Homolog-Like 5 3
  • Forkhead Box Protein F1 3

External Ids for FOXF1 Gene

Previous HGNC Symbols for FOXF1 Gene

  • FKHL5

Previous GeneCards Identifiers for FOXF1 Gene

  • GC16P077898
  • GC16P087577
  • GC16P086284
  • GC16P086325
  • GC16P085101
  • GC16P086544
  • GC16P072284

Summaries for FOXF1 Gene

Entrez Gene Summary for FOXF1 Gene

  • 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]

GeneCards Summary for FOXF1 Gene

FOXF1 (Forkhead Box F1) is a Protein Coding gene. Diseases associated with FOXF1 include alveolar capillary dysplasia with misalignment of pulmonary veins and alveolar capillary dysplasia. Among its related pathways are FOXA2 and FOXA3 transcription factor networks. GO annotations related to this gene include sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is FOXK2.

UniProtKB/Swiss-Prot for FOXF1 Gene

  • Probable transcription activator for a number of lung-specific genes

Gene Wiki entry for FOXF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXF1 Gene

Genomics for FOXF1 Gene

Regulatory Elements for FOXF1 Gene

Genomic Location for FOXF1 Gene

Start:
86,510,527 bp from pter
End:
86,515,418 bp from pter
Size:
4,892 bases
Orientation:
Plus strand

Genomic View for FOXF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FOXF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXF1 Gene

Proteins for FOXF1 Gene

  • Protein details for FOXF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12946-FOXF1_HUMAN
    Recommended name:
    Forkhead box protein F1
    Protein Accession:
    Q12946
    Secondary Accessions:
    • B2RAF4
    • Q5FWE5

    Protein attributes for FOXF1 Gene

    Size:
    379 amino acids
    Molecular mass:
    40122 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC50399.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAC61576.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH89442.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG36851.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for FOXF1 Gene

Proteomics data for FOXF1 Gene at MOPED

Post-translational modifications for FOXF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXF1 Gene

Domains for FOXF1 Gene

Gene Families for FOXF1 Gene

HGNC:
  • FOX :Forkhead boxes

Protein Domains for FOXF1 Gene

Suggested Antigen Peptide Sequences for FOXF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q12946

UniProtKB/Swiss-Prot:

FOXF1_HUMAN :
  • Q12946
Domain:
  • Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation
  • Contains 1 fork-head DNA-binding domain.
genes like me logo Genes that share domains with FOXF1: view

Function for FOXF1 Gene

Molecular function for FOXF1 Gene

GENATLAS Biochemistry: transcription factor-like 5,with a Drosophila homeo fork head DNA binding domain homolog,containing a CGG repeat in 5utr
UniProtKB/Swiss-Prot Function: Probable transcription activator for a number of lung-specific genes

Gene Ontology (GO) - Molecular Function for FOXF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IMP 8626802
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IMP 8626802
GO:0003677 DNA binding IDA 9769171
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA --
genes like me logo Genes that share ontologies with FOXF1: view
genes like me logo Genes that share phenotypes with FOXF1: view

Animal Models for FOXF1 Gene

MGI Knock Outs for FOXF1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for FOXF1 Gene

Localization for FOXF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXF1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXF1 Gene COMPARTMENTS Subcellular localization image for FOXF1 gene
Compartment Confidence
nucleus 4
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FOXF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC 9769171
GO:0005667 transcription factor complex TAS 9722567
genes like me logo Genes that share ontologies with FOXF1: view

Pathways for FOXF1 Gene

genes like me logo Genes that share pathways with FOXF1: view

Pathways by source for FOXF1 Gene

1 BioSystems pathway for FOXF1 Gene

Gene Ontology (GO) - Biological Process for FOXF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001568 blood vessel development IMP 19500772
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IMP 19500772
GO:0001756 somitogenesis IEA --
genes like me logo Genes that share ontologies with FOXF1: view

Transcripts for FOXF1 Gene

mRNA/cDNA for FOXF1 Gene

(39) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXF1 Gene

Forkhead box F1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FOXF1 Gene

No ASD Table

Relevant External Links for FOXF1 Gene

GeneLoc Exon Structure for
FOXF1
ECgene alternative splicing isoforms for
FOXF1

Expression for FOXF1 Gene

mRNA expression in normal human tissues for FOXF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXF1 Gene

This gene is overexpressed in Colon - Sigmoid (7.1), Esophagus - Muscularis (5.8), Esophagus - Gastroesophageal Junction (5.7), and Bladder (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FOXF1 Gene

SOURCE GeneReport for Unigene cluster for FOXF1 Gene Hs.155591

mRNA Expression by UniProt/SwissProt for FOXF1 Gene

Q12946-FOXF1_HUMAN
Tissue specificity: Expressed in lung and placenta.
genes like me logo Genes that share expressions with FOXF1: view

Orthologs for FOXF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FOXF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXF1 35
  • 99.21 (n)
  • 99.74 (a)
FOXF1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FOXF1 35
  • 94.28 (n)
  • 96.83 (a)
FOXF1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXF1 35
  • 93.93 (n)
  • 94.72 (a)
FOXF1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxf1 35
  • 88.92 (n)
  • 93.88 (a)
Foxf1 16
Foxf1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXF1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FOXF1 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxf1 35
  • 88.74 (n)
  • 93.62 (a)
chicken
(Gallus gallus)
Aves FOXF1 35
  • 84.91 (n)
  • 91.98 (a)
FOXF1 36
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.182 35
tropical clawed frog
(Silurana tropicalis)
Amphibia foxf1 35
  • 74.65 (n)
  • 84.13 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3557 35
zebrafish
(Danio rerio)
Actinopterygii foxf1 35
  • 70.9 (n)
  • 78.38 (a)
foxf1 36
  • 76 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for FOXF1:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 FOXF1 Gene

ENSEMBL:
Gene Tree for FOXF1 (if available)
TreeFam:
Gene Tree for FOXF1 (if available)

Paralogs for FOXF1 Gene

Selected SIMAP similar genes for FOXF1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FOXF1: view

Variants for FOXF1 Gene

Sequence variations from dbSNP and Humsavar for FOXF1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1064259 -- 86,513,749(+) AAGTC(A/G)AAGGA utr-variant-3-prime
rs1141336 -- 86,513,519(+) TTTTT(G/T)GGTGA utr-variant-3-prime
rs1424020 -- 86,512,567(+) GTGGT(A/G)GCTGC intron-variant
rs1559382 -- 86,511,963(+) GCCTG(G/T)AGGGC intron-variant
rs1559383 -- 86,511,964(+) CCTGG(A/C)GGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FOXF1 Gene

Variant ID Type Subtype PubMed ID
esv4262 CNV Complex 18987735
nsv525024 CNV Loss 19592680
dgv498n67 CNV Gain 20364138
nsv907132 CNV Loss 21882294
nsv907133 CNV Loss 21882294
nsv9468 CNV Gain 18304495
nsv527579 CNV Loss 19592680
esv29890 CNV Loss 19812545

Relevant External Links for FOXF1 Gene

HapMap Linkage Disequilibrium report
FOXF1
Human Gene Mutation Database (HGMD)
FOXF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXF1 Gene

Disorders for FOXF1 Gene

(1) OMIM Diseases for FOXF1 Gene (601089)

UniProtKB/Swiss-Prot

FOXF1_HUMAN
  • Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]: A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn. {ECO:0000269 PubMed:19500772, ECO:0000269 PubMed:23505205}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for FOXF1 Gene

Relevant External Links for FOXF1

Genetic Association Database (GAD)
FOXF1
Human Genome Epidemiology (HuGE) Navigator
FOXF1
genes like me logo Genes that share disorders with FOXF1: view

Publications for FOXF1 Gene

  1. Differential activation of lung-specific genes by two forkhead proteins, FREAC-1 and FREAC-2. (PMID: 8626802) Hellqvist M. … Carlsson P. (J. Biol. Chem. 1996) 3 4 23
  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
  3. Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). (PMID: 8825632) Larsson C. … Carlsson P. (Genomics 1995) 2 3
  4. FREAC-1 contains a cell-type-specific transcriptional activation domain and is expressed in epithelial-mesenchymal interfaces. (PMID: 9769171) Mahlapuu M. … Carlsson P. (Dev. Biol. 1998) 3 4
  5. The human forkhead protein FREAC-2 contains two functionally redundant activation domains and interacts with TBP and TFIIB. (PMID: 9722567) Hellqvist M. … Carlsson P. (J. Biol. Chem. 1998) 3 23

Products for FOXF1 Gene

Sources for FOXF1 Gene

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