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Aliases for FOXC1 Gene

Aliases for FOXC1 Gene

  • Forkhead Box C1 2 3
  • FREAC3 3 4 6
  • FKHL7 3 4 6
  • Forkhead-Related Transcription Factor 3 3 4
  • Forkhead-Related Protein FKHL7 3 4
  • FREAC-3 3 4
  • RIEG3 3 6
  • IRID1 3 6
  • Forkhead/Winged Helix-Like Transcription Factor 7 3
  • Forkhead, Drosophila, Homolog-Like 7 3
  • Forkhead-Related Activator 3 3
  • Forkhead Box C1 Protein 3
  • Forkhead Box Protein C1 3
  • Myeloid Factor-Delta 3
  • IGDA 3
  • IHG1 3
  • ARA 3

External Ids for FOXC1 Gene

Previous HGNC Symbols for FOXC1 Gene

  • FKHL7
  • IRID1

Previous GeneCards Identifiers for FOXC1 Gene

  • GC06P001595
  • GC06P001555
  • GC06P001480

Summaries for FOXC1 Gene

Entrez Gene Summary for FOXC1 Gene

  • 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]

GeneCards Summary for FOXC1 Gene

FOXC1 (Forkhead Box C1) is a Protein Coding gene. Diseases associated with FOXC1 include iridogoniodysgenesis, type 1 and axenfeld-rieger syndrome, type 3. Among its related pathways are Heart Development and Wnt / Hedgehog / Notch. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXE3.

UniProtKB/Swiss-Prot for FOXC1 Gene

  • Binding of FREAC-3 and FREAC-4 to their cognate sites results in bending of the DNA at an angle of 80-90 degrees. Regulates FOXO1 through binding to a conserved element, 5-GTAAACAAA-3 in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye.

Gene Wiki entry for FOXC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXC1 Gene

Genomics for FOXC1 Gene

Regulatory Elements for FOXC1 Gene

Genomic Location for FOXC1 Gene

Start:
1,609,972 bp from pter
End:
1,613,897 bp from pter
Size:
3,926 bases
Orientation:
Plus strand

Genomic View for FOXC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FOXC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXC1 Gene

Proteins for FOXC1 Gene

  • Protein details for FOXC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12948-FOXC1_HUMAN
    Recommended name:
    Forkhead box protein C1
    Protein Accession:
    Q12948
    Secondary Accessions:
    • Q86UP7
    • Q9BYM1
    • Q9NUE5
    • Q9UDD0
    • Q9UP06

    Protein attributes for FOXC1 Gene

    Size:
    553 amino acids
    Molecular mass:
    56789 Da
    Quaternary structure:
    • Monomer. Interacts with C1QBP.

neXtProt entry for FOXC1 Gene

Proteomics data for FOXC1 Gene at MOPED

Post-translational modifications for FOXC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXC1 Gene

Domains for FOXC1 Gene

Gene Families for FOXC1 Gene

HGNC:
  • FOX :Forkhead boxes

Protein Domains for FOXC1 Gene

Suggested Antigen Peptide Sequences for FOXC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q12948

UniProtKB/Swiss-Prot:

FOXC1_HUMAN :
  • Q12948
Domain:
  • Contains 1 fork-head DNA-binding domain.
genes like me logo Genes that share domains with FOXC1: view

Function for FOXC1 Gene

Molecular function for FOXC1 Gene

GENATLAS Biochemistry: transcription factor-like 7,ubiquitously expressed,with a Drosophila homeo forkhead DNA binding domain homolog,homolog to the murine MF1,disrupted in congenital hydrocephalus
UniProtKB/Swiss-Prot Function: Binding of FREAC-3 and FREAC-4 to their cognate sites results in bending of the DNA at an angle of 80-90 degrees. Regulates FOXO1 through binding to a conserved element, 5-GTAAACAAA-3 in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye.

Gene Ontology (GO) - Molecular Function for FOXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 7957066
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IC --
GO:0003677 DNA binding IDA 11179011
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 11179011
genes like me logo Genes that share ontologies with FOXC1: view
genes like me logo Genes that share phenotypes with FOXC1: view

Animal Models for FOXC1 Gene

MGI Knock Outs for FOXC1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FOXC1 Gene

Localization for FOXC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXC1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXC1 Gene COMPARTMENTS Subcellular localization image for FOXC1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for FOXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11179011
GO:0005654 nucleoplasm IDA --
GO:0005720 nuclear heterochromatin IDA 15684392
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with FOXC1: view

Pathways for FOXC1 Gene

genes like me logo Genes that share pathways with FOXC1: view

Pathways by source for FOXC1 Gene

2 Cell Signaling Technology pathways for FOXC1 Gene
1 BioSystems pathway for FOXC1 Gene

Gene Ontology (GO) - Biological Process for FOXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001503 ossification IEA --
GO:0001541 ovarian follicle development IEA --
GO:0001568 blood vessel development --
GO:0001654 eye development IDA 9792859
genes like me logo Genes that share ontologies with FOXC1: view

Compounds for FOXC1 Gene

(1) Novoseek inferred chemical compound relationships for FOXC1 Gene

Compound -log(P) Hits PubMed IDs
threonine 0 1
genes like me logo Genes that share compounds with FOXC1: view

Transcripts for FOXC1 Gene

mRNA/cDNA for FOXC1 Gene

(118) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXC1 Gene

Forkhead box C1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FOXC1 Gene

No ASD Table

Relevant External Links for FOXC1 Gene

GeneLoc Exon Structure for
FOXC1
ECgene alternative splicing isoforms for
FOXC1

Expression for FOXC1 Gene

mRNA expression in normal human tissues for FOXC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXC1 Gene

This gene is overexpressed in Artery - Tibial (9.2), Artery - Aorta (8.8), and Artery - Coronary (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FOXC1 Gene

SOURCE GeneReport for Unigene cluster for FOXC1 Gene Hs.348883

mRNA Expression by UniProt/SwissProt for FOXC1 Gene

Q12948-FOXC1_HUMAN
Tissue specificity: Expressed in all tissues and cell lines examined.
genes like me logo Genes that share expressions with FOXC1: view

Orthologs for FOXC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXC1 35
  • 99.44 (n)
  • 99.58 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 26 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia FOXI3 36
  • 27 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Foxc1 35
  • 90.03 (n)
  • 92.48 (a)
Foxc1 16
Foxc1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXC1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxc1 35
  • 89.36 (n)
  • 91.93 (a)
African clawed frog
(Xenopus laevis)
Amphibia xfd-11 35
tropical clawed frog
(Silurana tropicalis)
Amphibia foxc1 35
  • 73.02 (n)
  • 74.8 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10228 35
zebrafish
(Danio rerio)
Actinopterygii foxc1a 35
  • 72.06 (n)
  • 73.74 (a)
foxc1a 35
foxc1a 36
  • 76 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta croc 36
  • 29 (a)
OneToMany
fd96Cb 37
  • 63 (a)
croc 37
  • 83 (a)
fd64A 37
  • 64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
ManyToMany
Species with no ortholog for FOXC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FOXC1 Gene

ENSEMBL:
Gene Tree for FOXC1 (if available)
TreeFam:
Gene Tree for FOXC1 (if available)

Paralogs for FOXC1 Gene

Selected SIMAP similar genes for FOXC1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FOXC1: view

Variants for FOXC1 Gene

Sequence variations from dbSNP and Humsavar for FOXC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs984253 -- 1,613,294(+) TAGAT(A/C/T)TTTTC utr-variant-3-prime
rs1051933 -- 1,611,721(+) TGGAC(A/G)ACCCC missense, reference
rs1051934 -- 1,611,903(+) TTGGC(A/C/G)AGCGC synonymous-codon, reference
rs2230096 Benign 1,610,850(+) GAGTG(C/T)TTCST reference, synonymous-codon
rs2745599 -- 1,613,451(+) CTTTG(A/G)GAAAC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FOXC1 Gene

Variant ID Type Subtype PubMed ID
nsv883376 CNV Gain 21882294
dgv992n67 CNV Gain 20364138
dgv6426n71 CNV Loss 21882294
nsv883382 CNV Loss 21882294
nsv823397 CNV Gain 20364138
nsv823399 CNV Gain 20364138
nsv823400 CNV Gain 20364138

Relevant External Links for FOXC1 Gene

HapMap Linkage Disequilibrium report
FOXC1
Human Gene Mutation Database (HGMD)
FOXC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXC1 Gene

Disorders for FOXC1 Gene

(2) OMIM Diseases for FOXC1 Gene (601090)

UniProtKB/Swiss-Prot

FOXC1_HUMAN
  • Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]: 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. {ECO:0000269 PubMed:17210863}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]: Autosomal dominant phenotype characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. {ECO:0000269 PubMed:12614756}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for FOXC1 Gene

(19) Novoseek inferred disease relationships for FOXC1 Gene

Disease -log(P) Hits PubMed IDs
irid1 94.4 3
rieger syndrome 87.5 5
anomaly peters 83.9 4
glaucoma, congenital 82 5
glaucoma 78.4 32

Relevant External Links for FOXC1

Genetic Association Database (GAD)
FOXC1
Human Genome Epidemiology (HuGE) Navigator
FOXC1
genes like me logo Genes that share disorders with FOXC1: view

Publications for FOXC1 Gene

  1. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. (PMID: 9792859) Mears A.J. … Walter M.A. (Am. J. Hum. Genet. 1998) 3 4 23
  2. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. (PMID: 11170889) Nishimura D.Y. … Sheffield V.C. (Am. J. Hum. Genet. 2001) 3 4 23
  3. Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. (PMID: 11740218) Kawase C. … Sheffield V.C. (J. Glaucoma 2001) 3 4 23
  4. Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly. (PMID: 12454026) Panicker S.G. … Hasnain S.E. (Invest. Ophthalmol. Vis. Sci. 2002) 3 4 23
  5. Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India. (PMID: 12592227) Komatireddy S. … Balasubramanian D. (Mol. Vis. 2003) 3 4 23

Products for FOXC1 Gene

Sources for FOXC1 Gene

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