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FOXC1 forkhead box C1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu19618 NM_001453 Homo sapiens forkhead box C1 (FOXC1), mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu19618C NM_001453 Homo sapiens forkhead box C1 (FOXC1), mRNA. Customized vector On-demand TBD $269.00

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Gene Symbol FOXC1
Entrez Gene ID 2296
Full Name forkhead box C1
Synonyms ARA, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1, RIEG3
General protein information
Preferred Names
forkhead box protein C1
Names
forkhead box protein C1
myeloid factor-delta
forkhead-related activator 3
forkhead-related protein FKHL7
forkhead, drosophila, homolog-like 7
forkhead-related transcription factor 3
forkhead/winged helix-like transcription factor 7
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, Jul 2008].
Disorder

MIM: 601090

Iridogoniodysgenesis, type 1, 601631 (3); Rieger or Axenfeld

mRNA Protein Product Sequence Price Select
NM_001453, 119395715 NP_001444, 119395716 forkhead box protein C1 ORF Sequence $550.00
WikiPathways
WP1591Heart Development
Homo sapiens (human)FOXC1NP_001444.2
Pan troglodytes (chimpanzee)FOXC1XP_003311061.2
Mus musculus (house mouse)Foxc1NP_032618.2
Rattus norvegicus (Norway rat)Foxc1NP_599165.1
Danio rerio (zebrafish)foxc1aNP_571803.1
Xenopus (Silurana) tropicalis (western clawed frog)foxc1NP_001007864.1
Process
IDNameEvidence
GO:0001501skeletal system developmentIEA
GO:0001503ossificationIEA
GO:0001541ovarian follicle developmentIEA
GO:0001654eye developmentIDA
GO:0001657ureteric bud developmentIEA
GO:0001701in utero embryonic developmentIEA
GO:0001756somitogenesisIEA
GO:0001822kidney developmentIEA
GO:0001945lymph vessel developmentIEA
GO:0001974blood vessel remodelingIEA
GO:0006355regulation of transcription, DNA-templatedIDA
GO:0006366transcription from RNA polymerase II promoterIBA
GO:0006366transcription from RNA polymerase II promoterIEA
GO:0007219Notch signaling pathwayIEA
GO:0007420brain developmentIEA
GO:0007507heart developmentIDA
GO:0008354germ cell migrationIEA
GO:0014032neural crest cell developmentIEA
GO:0030199collagen fibril organizationIEA
GO:0030203glycosaminoglycan metabolic processIEA
GO:0032808lacrimal gland developmentIEA
GO:0035050embryonic heart tube developmentIEA
GO:0042475odontogenesis of dentin-containing toothIMP
GO:0043010camera-type eye developmentIEA
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedNAS
GO:0045930negative regulation of mitotic cell cycleIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterISS
GO:0046620regulation of organ growthIEA
GO:0048010vascular endothelial growth factor receptor signaling pathwayIEA
GO:0048341paraxial mesoderm formationIEA
GO:0048844artery morphogenesisIEA
GO:0050880regulation of blood vessel sizeIEA
GO:0055010ventricular cardiac muscle tissue morphogenesisIEA
GO:0060038cardiac muscle cell proliferationIEA
GO:1902257negative regulation of apoptotic process involved in outflow tract morphogenesisIEA
Component
IDNameEvidence
GO:0005634nucleusIC
GO:0005634nucleusIDA
GO:0005720nuclear heterochromatinIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
Function
IDNameEvidence
GO:0000977RNA polymerase II regulatory region sequence-specific DNA bindingIDA
GO:0001228RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionIC
GO:0003677DNA bindingIDA
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityIEA
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIPI
GO:0008301DNA binding, bendingIDA
GO:0043565sequence-specific DNA bindingIDA
GO:0044212transcription regulatory region DNA bindingISS
GeneCards FOXC1
UniProt W6CJ52, Q12948
Vega OTTHUMG00000016182
MIM 601090
Ensembl ENSG00000054598
HGNC 3800
HPRD 03054

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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