FOXF1
entrez
2294
canonical
uniprot
Q12946
canonical
ensembl
ENSG00000103241
resolver
ensp
ENSP00000262426
resolver
enst
ENST00000262426
resolver
genesymbol
FOXF1
resolver
genesymbol_syn
FKHL5
resolver
genesymbol_syn
FREAC1
resolver
hgnc
HGNC:3809
resolver
uniprot
B2RAF4
resolver
uniprot
Q5FWE5
resolver
uniprot_entry
FOXF1_HUMAN
resolver
uniprot_sec
B2RAF4
resolver
uniprot_sec
Q5FWE5
resolver
amino_acid_sequence
MSSAPEKQQPPHGGGGGGGGGGGAAMDPASSGPSKAKKTNAGIRRPEKPPYSYIALIVMAIQSSPTKRLTLSEIYQFLQSRFPFFRGSYQGWKNSVRHNLSLNECFIKLPKGLGRPGKGHYWTIDPASEFMFEEGSFRRRPRGFRRKCQALKPMYSMMNGLGFNHLPDTYGFQGSAGGLSCPPNSLALEGGLGMMNGHLPGNVDGMALPSHSVPHLPSNGGHSYMGGCGGAAAGEYPHHDSSVPASPLLPTGAGGVMEPHAVYSGSAAAWPPSASAALNSGASYIKQQPLSPCNPAANPLSGSLSTHSLEQPYLHQNSHNAPAELQGIPRYHSQSPSMCDRKEFVFSFNAMASSSMHSAGGGSYYHQQVTYQDIKPCVM
uniprot
proteins
disease_involvement
DISEASE: 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, ECO:0000269|PubMed:27145217}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable transcription activator for a number of lung-specific genes.
uniprot
proteins
mass_dalton
40122
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
19500772
uniprot
proteins
pubmed
23505205
uniprot
proteins
pubmed
27145217
uniprot
proteins
pubmed
7957066
uniprot
proteins
pubmed
8626802
uniprot
proteins
pubmed
9769171
uniprot
proteins
sequence_length
379
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins