Entity Details

Primary name FOXC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ12948
EntryNameFOXC1_HUMAN
FullNameForkhead box protein C1
TaxID9606
Evidenceevidence at protein level
Length553
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesFOXC1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000792 heterochromatin
GO:0000976 transcription cis-regulatory region binding
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:0001525 angiogenesis
GO:0001541 ovarian follicle development
GO:0001654 eye development
GO:0001657 ureteric bud development
GO:0001701 in utero embryonic development
GO:0001756 somitogenesis
GO:0001822 kidney development
GO:0001945 lymph vessel development
GO:0001958 endochondral ossification
GO:0001974 blood vessel remodeling
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007219 Notch signaling pathway
GO:0007507 heart development
GO:0008134 transcription factor binding
GO:0008283 cell population proliferation
GO:0008301 DNA binding, bending
GO:0008354 germ cell migration
GO:0009653 anatomical structure morphogenesis
GO:0010628 positive regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0014031 mesenchymal cell development
GO:0014032 neural crest cell development
GO:0016477 cell migration
GO:0016525 negative regulation of angiogenesis
GO:0021549 cerebellum development
GO:0030154 cell differentiation
GO:0030199 collagen fibril organization
GO:0030203 glycosaminoglycan metabolic process
GO:0032808 lacrimal gland development
GO:0035050 embryonic heart tube development
GO:0036438 maintenance of lens transparency
GO:0038084 vascular endothelial growth factor signaling pathway
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043010 camera-type eye development
GO:0043388 positive regulation of DNA binding
GO:0043565 sequence-specific DNA binding
GO:0045618 positive regulation of keratinocyte differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045930 negative regulation of mitotic cell cycle
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046620 regulation of organ growth
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0048341 paraxial mesoderm formation
GO:0048844 artery morphogenesis
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060038 cardiac muscle cell proliferation
GO:0070098 chemokine-mediated signaling pathway
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0072010 glomerular epithelium development
GO:0097746 blood vessel diameter maintenance
GO:1901491 negative regulation of lymphangiogenesis
GO:1901534 positive regulation of hematopoietic progenitor cell differentiation
GO:1902038 positive regulation of hematopoietic stem cell differentiation
GO:1902257 negative regulation of apoptotic process involved in outflow tract morphogenesis
GO:1904798 positive regulation of core promoter binding
GO:1990841 promoter-specific chromatin binding
GO:1990869 cellular response to chemokine

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
IPR033067 Forkhead box protein C1FamilyFamily
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
601631 OMIMAnterior segment dysgenesis 3 (ASGD3)A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
602482 OMIMAxenfeld-Rieger syndrome 3 (RIEG3)An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. The disease is caused by variants affecting the gene represented in this entry.