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FOXC1 forkhead box C1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001453 Homo sapiens forkhead box C1 (FOXC1), mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

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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?

What is the normal function of the FOXC1 gene?

The FOXC1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this action, the FOXC1 protein is called a transcription factor.

The FOXC1 protein plays a critical role in early development, particularly in the formation of structures in the front part of the eye (the anterior segment). These structures include the colored part of the eye (the iris), the lens of the eye, and the clear front covering of the eye (the cornea). Studies suggest that the FOXC1 protein may also have functions in the adult eye, such as helping cells respond to oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells.

The FOXC1 protein is also involved in the normal development of other parts of the body, including the heart, kidneys, and brain.

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