Entity Details

Primary name FOXF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ12946
EntryNameFOXF1_HUMAN
FullNameForkhead box protein F1
TaxID9606
Evidenceevidence at transcript level
Length379
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesFOXF1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001568 blood vessel development
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001756 somitogenesis
GO:0001763 morphogenesis of a branching structure
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0003197 endocardial cushion development
GO:0003214 cardiac left ventricle morphogenesis
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0005667 transcription regulator complex
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007224 smoothened signaling pathway
GO:0007368 determination of left/right symmetry
GO:0007494 midgut development
GO:0007507 heart development
GO:0009887 animal organ morphogenesis
GO:0010811 positive regulation of cell-substrate adhesion
GO:0014822 detection of wounding
GO:0030198 extracellular matrix organization
GO:0030323 respiratory tube development
GO:0030324 lung development
GO:0030335 positive regulation of cell migration
GO:0031016 pancreas development
GO:0043305 negative regulation of mast cell degranulation
GO:0043565 sequence-specific DNA binding
GO:0045198 establishment of epithelial cell apical/basal polarity
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048286 lung alveolus development
GO:0048371 lateral mesodermal cell differentiation
GO:0048557 embryonic digestive tract morphogenesis
GO:0048565 digestive tract development
GO:0048613 embryonic ectodermal digestive tract morphogenesis
GO:0048617 embryonic foregut morphogenesis
GO:0050728 negative regulation of inflammatory response
GO:0051145 smooth muscle cell differentiation
GO:0060426 lung vasculature development
GO:0060438 trachea development
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060461 right lung morphogenesis
GO:0060463 lung lobe morphogenesis
GO:0060841 venous blood vessel development
GO:0061030 epithelial cell differentiation involved in mammary gland alveolus development
GO:0071345 cellular response to cytokine stimulus
GO:0071407 cellular response to organic cyclic compound
GO:0072189 ureter development
GO:0090131 mesenchyme migration
GO:0097070 ductus arteriosus closure
GO:0098609 cell-cell adhesion

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001766 Fork head domainDomainDomain
IPR018122 Fork head domain conserved site1SiteConserved site
IPR030456 Fork head domain conserved site 2SiteConserved site
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
265380 OMIMAlveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
FOXF1_HUMANAURKA_HUMANBioGRID28218735 details
FOXF1_HUMANFANCM_HUMANBioGRID26625197 details