Version 5.4
Homo sapiens Gene: FOXC1
Summary
InnateDB Gene IDBG-56045.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FOXC1
Gene Name forkhead box C1
Synonyms ARA; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3
Species Homo sapiens
Ensembl Gene ENSG00000054598
Encoded Proteins
IDBP-56047
forkhead box C1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:1609972-1613897
Strand Forward strand
Band p25.3
Transcripts
ENST00000380874 ENSP00000370256
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008301 DNA binding, bending
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001541 ovarian follicle development
GO:0001568 blood vessel 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:0001974 blood vessel remodeling
GO:0003007 heart morphogenesis
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007219 Notch signaling pathway
GO:0007420 brain development
GO:0007507 heart development
GO:0008354 germ cell migration
GO:0014032 neural crest cell development
GO:0030199 collagen fibril organization
GO:0030203 glycosaminoglycan metabolic process
GO:0032808 lacrimal gland development
GO:0035050 embryonic heart tube development
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043010 camera-type eye development
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045930 negative regulation of mitotic cell cycle
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046620 regulation of organ growth
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0048341 paraxial mesoderm formation
GO:0048762 mesenchymal cell differentiation
GO:0048844 artery morphogenesis
GO:0050880 regulation of blood vessel size
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060038 cardiac muscle cell proliferation
GO:1902257 negative regulation of apoptotic process involved in outflow tract morphogenesis
Cellular Component
GO:0005634 nucleus
GO:0005720 nuclear heterochromatin
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000050295
View Gene Order
Cross-References
SwissProt Q12948
TrEMBL C6KMR8 W6CJ52
UniProt Splice Variant
Entrez Gene 2296
UniGene Hs.348883 Hs.596881
RefSeq NM_001453
HUGO HGNC:3800
OMIM 601090
CCDS CCDS4473
HPRD
IMGT
EMBL AF048693 AF078096 AL034344 AY228704 CH471087 GQ282997 KF855955 L12143 U13221
GenPept AAA92038 AAC18081 AAC72915 AAK13575 AAP15181 ACS83750 AHI85954 CAB81658 EAW55074
RNA Seq Atlas 2296

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca