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FOXC1 forkhead box C1 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_001453 Homo sapiens forkhead box C1 (FOXC1), mRNA. Full Length $1208.20
ORF Sequence $481.98


Gene Symbol FOXC1
Entrez Gene ID 2296
Full Name forkhead box C1
Synonyms ARA, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1, RIEG3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p25
Summary This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq].
Disorder

MIM: 601090

Iridogoniodysgenesis, type 1, 601631 (3); Rieger or Axenfeld
mRNA NM_001453, 119395715
Protein NP_001444, 119395716
Product forkhead box protein C1
RefSeq Status REVIEWED
WikiPathways
WP1591Heart Development
Homo sapiens (human)FOXC1NP_001444.2
Pan troglodytes (chimpanzee)FOXC1XP_001174718.1
Mus musculus (house mouse)Foxc1NP_032618.2
Danio rerio (zebrafish)foxc1aNP_571803.1
Process
IDNameEvidence
GO:0001501skeletal system developmentIEA
GO:0001503ossificationISS
GO:0001541ovarian follicle developmentISS
GO:0001568blood vessel developmentIEA
GO:0001570vasculogenesisISS
GO:0001654eye developmentIDA
GO:0001656metanephros developmentISS
GO:0001657ureteric bud developmentISS
GO:0001701in utero embryonic developmentIEA
GO:0001756somitogenesisISS
GO:0001946lymphangiogenesisISS
GO:0001974blood vessel remodelingISS
GO:0003007heart morphogenesisIEA
GO:0006351transcription, DNA-dependentIDA
GO:0006355regulation of transcription, DNA-dependentIDA
GO:0006916anti-apoptosisISS
GO:0007219Notch signaling pathwayISS
GO:0007420brain developmentISS
GO:0007507heart developmentIDA
GO:0008354germ cell migrationISS
GO:0014032neural crest cell developmentIEA
GO:0014034neural crest cell fate commitmentISS
GO:0030199collagen fibril organizationISS
GO:0030203glycosaminoglycan metabolic processISS
GO:0032808lacrimal gland developmentISS
GO:0035050embryonic heart tube developmentISS
GO:0042475odontogenesis of dentine-containing toothIMP
GO:0043010camera-type eye developmentISS
GO:0045893positive regulation of transcription, DNA-dependentIDA
GO:0045930negative regulation of mitotic cell cycleIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterISS
GO:0046620regulation of organ growthISS
GO:0048010vascular endothelial growth factor receptor signaling pathwayISS
GO:0048341paraxial mesoderm formationIEA
GO:0048343paraxial mesodermal cell fate commitmentISS
GO:0048762mesenchymal cell differentiationIEA
GO:0048844artery morphogenesisISS
GO:0050880regulation of blood vessel sizeISS
GO:0051090regulation of sequence-specific DNA binding transcription factor activityISS
GO:0055010ventricular cardiac muscle tissue morphogenesisISS
GO:0060038cardiac muscle cell proliferationISS
Component
IDNameEvidence
GO:0005634nucleusIC
GO:0005634nucleusIDA
GO:0005667transcription factor complexISS
GO:0005720nuclear heterochromatinIDA
Function
IDNameEvidence
GO:0003677DNA bindingIDA
GO:0003690double-stranded DNA bindingISS
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0003705sequence-specific enhancer binding RNA polymerase II transcription factor activityISS
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIPI
GO:0008301DNA bending activityIDA
GO:0031490chromatin DNA bindingISS
GO:0043565sequence-specific DNA bindingIDA
GeneCards FOXC1
UniProt Q12948
MIM 601090
Ensembl ENSG00000054598
HGNC 3800
HPRD 03054

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