FOXF1
Forkhead box protein F1
Also known as: FKHL5, FOXF1_HUMAN, FREAC1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q12946
- Gene
- FOXF1
- Ensembl
- ENSG00000103241
- Chromosome
- 16
- Canonical length
- 379 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
379 residues, UniProt reviewed canonical sequence.
>Q12946|FOXF1
1 MSSAPEKQQP PHGGGGGGGG GGGAAMDPAS SGPSKAKKTN AGIRRPEKPP YSYIALIVMA
61 IQSSPTKRLT LSEIYQFLQS RFPFFRGSYQ GWKNSVRHNL SLNECFIKLP KGLGRPGKGH
121 YWTIDPASEF MFEEGSFRRR PRGFRRKCQA LKPMYSMMNG LGFNHLPDTY GFQGSAGGLS
181 CPPNSLALEG GLGMMNGHLP GNVDGMALPS HSVPHLPSNG GHSYMGGCGG AAAGEYPHHD
241 SSVPASPLLP TGAGGVMEPH AVYSGSAAAW PPSASAALNS GASYIKQQPL SPCNPAANPL
301 SGSLSTHSLE QPYLHQNSHN APAELQGIPR YHSQSPSMCD RKEFVFSFNA MASSSMHSAG
361 GGSYYHQQVT YQDIKPCVMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FOXF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 58 nTPM
Expression across tissuesHPA
Tissue
- colon: 58 nTPM
- urinary bladder: 48 nTPM
- lung: 32 nTPM
- prostate: 25 nTPM
- stomach: 25 nTPM
- placenta: 22 nTPM
Single-cell type
- fibroblasts: 45 nCPM
- hepatic stellate cells: 39 nCPM
- smooth muscle cells: 33 nCPM
- pericytes: 31 nCPM
- vascular smooth muscle cells: 29 nCPM
- vascular endothelial cells: 26 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 8.9 nTPM
- pons: 7.2 nTPM
- amygdala: 7 nTPM
- medulla oblongata: 6.7 nTPM
- midbrain: 5.6 nTPM
- basal ganglia: 5.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FOXF1.
Disease | AllUniProt
Conditions FOXF1 is implicated in, by any mechanism.
- Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) MIM:265380
Disease | GeneticClinVar
66 pathogenic / likely-pathogenic of 245 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Alveolar capillary dysplasia with pulmonary venous misalignment
- See cases
- Pyloric stenosis, infantile hypertrophic, 5
- Idiopathic and/or familial pulmonary arterial hypertension
- VATER association
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.3
- gnomAD pLI
- 0.96
- gnomAD missense Z
- 1.09
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ morphogenesis
- blood vessel development
- cardiac left ventricle morphogenesis
- cell-cell adhesion
- cellular response to cytokine stimulus
- determination of left/right symmetry
- digestive tract development
- ductus arteriosus closure
- embryonic digestive tract morphogenesis
- embryonic foregut morphogenesis
- endocardial cushion development
- epithelial cell differentiation involved in mammary gland alveolus development
- epithelial tube branching involved in lung morphogenesis
- establishment of epithelial cell apical/basal polarity
- extracellular matrix organization
- heart development
- in utero embryonic development
- lateral mesodermal cell differentiation
- lung alveolus development
- lung development
- lung lobe morphogenesis
- lung vasculature development
- mesenchyme migration
- midgut development
- morphogenesis of a branching structure
- negative regulation of inflammatory response
- negative regulation of mast cell degranulation
- negative regulation of transcription by RNA polymerase II
- pancreas development
- positive regulation of cell migration
- positive regulation of cell-substrate adhesion
- positive regulation of DNA-templated transcription
- positive regulation of mesenchymal cell proliferation
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- respiratory tube development
- smooth muscle cell differentiation
- smoothened signaling pathway
- somitogenesis
- trachea development
- ureter development
- vasculogenesis
- venous blood vessel development
- detection of wounding
- embryonic ectodermal digestive tract morphogenesis
- right lung morphogenesis
Molecular functions
- DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FOXF1 as an antibody target. Whether an autoantibody or antibody against FOXF1 could matter depends on whether native FOXF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FOXF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FOXF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...