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Ask your administrator if you think this is wrong. ======= FOXC1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: FOXC1 * **<color #00a2e8>Official Name</color>**: forkhead box C1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2296|2296]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q12948|Q12948]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FOXC1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FOXC1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601090|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:15299087, PubMed:15684392, PubMed:16492674, PubMed:27907090, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:16449236, PubMed:17210863, PubMed:19793056, PubMed:19279310, PubMed:25786029, PubMed:27804176). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes (PubMed:7957066, PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176). Upon DNA-binding, promotes DNA bending (PubMed:7957066, PubMed:14506133). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)- induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). 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 (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial- mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963). {ECO:0000250|UniProtKB:Q61572, ECO:0000269|PubMed:11782474, ECO:0000269|PubMed:12408963, ECO:0000269|PubMed:12533514, ECO:0000269|PubMed:14506133, ECO:0000269|PubMed:14578375, ECO:0000269|PubMed:15277473, ECO:0000269|PubMed:15299087, ECO:0000269|PubMed:15684392, ECO:0000269|PubMed:16449236, ECO:0000269|PubMed:16492674, ECO:0000269|PubMed:17210863, ECO:0000269|PubMed:17993506, ECO:0000269|PubMed:19279310, ECO:0000269|PubMed:19793056, ECO:0000269|PubMed:20406990, ECO:0000269|PubMed:22991501, ECO:0000269|PubMed:25786029, ECO:0000269|PubMed:26565916, ECO:0000269|PubMed:27804176, ECO:0000269|PubMed:27907090, ECO:0000269|PubMed:7957066}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Fork head| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |positive regulation of hematopoietic stem cell differentiation| |negative regulation of apoptotic process involved in outflow tract morphogenesis| |regulation of apoptotic process involved in outflow tract morphogenesis| |negative regulation of lymphangiogenesis| |maintenance of lens transparency| |regulation of lymphangiogenesis| |positive regulation of hematopoietic progenitor cell differentiation| |negative regulation of apoptotic process involved in morphogenesis| |negative regulation of apoptotic process involved in development| |lacrimal gland development| |paraxial mesoderm formation| |positive regulation of core promoter binding| |regulation of core promoter binding| |germ cell migration| |paraxial mesoderm morphogenesis| |regulation of apoptotic process involved in development| |regulation of apoptotic process involved in morphogenesis| |cardiac muscle cell proliferation| |striated muscle cell proliferation| |positive regulation of keratinocyte differentiation| |paraxial mesoderm development| |muscle cell proliferation| |DNA binding, bending| |glomerular epithelium development| |vascular endothelial growth factor signaling pathway| |transcription coactivator binding| |nuclear heterochromatin| |positive regulation of stem cell differentiation| |lymph vessel development| |positive regulation of epidermal cell differentiation| |positive regulation of transcription regulatory region DNA binding| |cardiac muscle tissue growth| |endochondral ossification| |replacement ossification| |heart growth| |blood vessel remodeling| |negative regulation of animal organ morphogenesis| |positive regulation of epidermis development| |regulation of heart morphogenesis| |cellular response to vascular endothelial growth factor stimulus| |regulation of keratinocyte differentiation| |cellular response to epidermal growth factor stimulus| |exocrine system development| |collagen fibril organization| |positive regulation of epithelial to mesenchymal transition| |response to epidermal growth factor| |ventricular cardiac muscle tissue morphogenesis| |promoter-specific chromatin binding| |mesenchyme morphogenesis| |ovarian follicle development| |glomerulus development| |regulation of transcription regulatory region DNA binding| |ventricular cardiac muscle tissue development| |positive regulation of DNA binding| |positive regulation of epithelial cell differentiation| |regulation of epidermal cell differentiation| |artery morphogenesis| |somitogenesis| |mesoderm formation| |vascular endothelial growth factor receptor signaling pathway| |cardiac muscle tissue morphogenesis| |mesoderm morphogenesis| |endochondral bone morphogenesis| |regulation of hematopoietic stem cell differentiation| |cardiac ventricle morphogenesis| |embryonic heart tube development| |neural crest cell development| |chemokine-mediated signaling pathway| |muscle tissue morphogenesis| |somite development| |odontogenesis of dentin-containing tooth| |stem cell development| |mesenchymal cell development| |regulation of epithelial to mesenchymal transition| |regulation of epidermis development| |artery development| |ureteric bud development| |regulation of hematopoietic progenitor cell differentiation| |mesonephric epithelium development| |muscle organ morphogenesis| |mesonephric tubule development| |female gonad development| |neural crest cell differentiation| |response to chemokine| |cellular response to chemokine| |mesonephros development| |development of primary female sexual characteristics| |regulation of organ growth| |segmentation| |nephron epithelium development| |organ growth| |tissue remodeling| |negative regulation of angiogenesis| |cerebellum development| |negative regulation of blood vessel morphogenesis| |female sex differentiation| |formation of primary germ layer| |metencephalon development| |bone morphogenesis| |negative regulation of vasculature development| |regulation of stem cell differentiation| |odontogenesis| |nephron development| |mesoderm development| |Notch signaling pathway| |regulation of DNA binding| |cardiac chamber morphogenesis| |cardiac ventricle development| |kidney epithelium development| |regulation of tube diameter| |regulation of blood vessel diameter| |regulation of tube size| |regulation of epithelial cell differentiation| |hindbrain development| |glycosaminoglycan metabolic process| |mesenchymal cell differentiation| |stem cell differentiation| |gastrulation| |cardiac muscle tissue development| |aminoglycan metabolic process| |vascular process in circulatory system| |cardiac chamber development| |positive regulation of binding| |positive regulation of hemopoiesis| |tissue homeostasis| |bone development| |gonad development| |anterior/posterior pattern specification| |development of primary sexual characteristics| |transcription regulatory region DNA binding| |mesenchyme development| |skeletal system morphogenesis| |heart morphogenesis| |regulation of animal organ morphogenesis| |ossification| |sex differentiation| |kidney development| |striated muscle tissue development| |renal system development| |transcription coactivator activity| |regulation of angiogenesis| |muscle organ development| |muscle tissue development| |negative regulation of mitotic cell cycle| |RNA polymerase II regulatory region sequence-specific DNA binding| |camera-type eye development| |angiogenesis| |urogenital system development| |regulation of vasculature development| |multicellular organismal homeostasis| |regulation of developmental growth| |regionalization| |transcription factor binding| |extracellular matrix organization| |anatomical structure homeostasis| |cellular process involved in reproduction in multicellular organism| |eye development| |visual system development| |sensory system development| |in utero embryonic development| |regulation of binding| |extracellular structure organization| |developmental growth| |blood circulation| |growth| |circulatory system process| |blood vessel morphogenesis| |gland development| |sequence-specific DNA binding| |reproductive structure development| |reproductive system development| |embryonic organ development| |pattern specification process| |DNA-binding transcription activator activity, RNA polymerase II-specific| |regulation of hemopoiesis| |supramolecular fiber organization| |muscle structure development| |blood vessel development| |skeletal system development| |cellular response to growth factor stimulus| |vasculature development| |transmembrane receptor protein tyrosine kinase signaling pathway| |regulation of anatomical structure size| |cardiovascular system development| |heart development| |response to growth factor| |sensory organ development| |cell population proliferation| |tissue morphogenesis| |embryonic morphogenesis| |negative regulation of cell cycle| |regulation of mitotic cell cycle| |chordate embryonic development| |embryo development ending in birth or egg hatching| |tube morphogenesis| |developmental process involved in reproduction| |regulation of growth| |cytokine-mediated signaling pathway| |DNA-binding transcription factor activity| |gamete generation| |enzyme linked receptor protein signaling pathway| |brain development| |head development| |multicellular organismal reproductive process| |sexual reproduction| |multicellular organism reproduction| |tube development| |negative regulation of transcription by RNA polymerase II| |circulatory system development| |negative regulation of apoptotic process| |anatomical structure formation involved in morphogenesis| |negative regulation of programmed cell death| |negative regulation of developmental process| |animal organ morphogenesis| |cell migration| |positive regulation of cell differentiation| |embryo development| |central nervous system development| |multi-organism reproductive process| |negative regulation of cell death| |cellular response to cytokine stimulus| |carbohydrate derivative metabolic process| |regulation of anatomical structure morphogenesis| |localization of cell| |cell motility| |response to cytokine| |epithelium development| |positive regulation of immune system process| |regulation of cell cycle| |negative regulation of transcription, DNA-templated| |negative regulation of multicellular organismal process| |positive regulation of transcription by RNA polymerase II| |cellular response to endogenous stimulus| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |locomotion| |negative regulation of RNA metabolic process| |positive regulation of developmental process| |negative regulation of cellular macromolecule biosynthetic process| |reproductive process| |reproduction| |negative regulation of nucleobase-containing compound metabolic process| |DNA binding| |negative regulation of macromolecule biosynthetic process| |response to endogenous stimulus| |negative regulation of cellular biosynthetic process| |regulation of apoptotic process| |positive regulation of transcription, DNA-templated| |negative regulation of biosynthetic process| |movement of cell or subcellular component| |DNA-binding transcription factor activity, RNA polymerase II-specific| |regulation of programmed cell death| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |homeostatic process| |cell development| |regulation of immune system process| |regulation of cell death| |negative regulation of gene expression| |positive regulation of RNA metabolic process| |positive regulation of multicellular organismal process| |tissue development| |positive regulation of molecular function| |regulation of cell differentiation| |protein-containing complex subunit organization| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |system process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |positive regulation of biosynthetic process| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 6775 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -1.92 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='FOXC1 Expression in NALM6 Cells: -1.92'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1