InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FOXF1

Summary

InnateDB Protein

IDBP-45354.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FOXF1

Protein Name

forkhead box F1

Synonyms

ACDMPV; FKHL5; FREAC1;

Species

Homo sapiens

Ensembl Protein

ENSP00000262426

InnateDB Gene

IDBG-45352 (FOXF1)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

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:0000269PubMed:19500772, ECO:0000269PubMed:23505205}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in lung and placenta. {ECO:0000269PubMed:7957066}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001228	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
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:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007224	smoothened signaling pathway
GO:0007368	determination of left/right symmetry
GO:0007494	midgut development
GO:0007498	mesoderm development
GO:0007507	heart development
GO:0009887	organ morphogenesis
GO:0010811	positive regulation of cell-substrate adhesion
GO:0014822	detection of wounding
GO:0016337	single organismal cell-cell adhesion
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:0045198	establishment of epithelial cell apical/basal polarity
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048286	lung alveolus development
GO:0048371	lateral mesodermal cell differentiation
GO:0048557	embryonic digestive tract morphogenesis
GO:0048565	digestive tract development
GO:0048566	embryonic 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:0051150	regulation of smooth muscle cell differentiation
GO:0060425	lung morphogenesis
GO:0060426	lung vasculature development
GO:0060438	trachea development
GO:0060441	epithelial tube branching involved in lung morphogenesis
GO:0060446	branching involved in open tracheal system development
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:0072001	renal system development
GO:0072189	ureter development
GO:0090131	mesenchyme migration
GO:0097070	ductus arteriosus closure