FOXC1 | ENSG00000054598 | NCBI 2296

Details for: FOXC1

Gene ID: 2296

Symbol: FOXC1

Ensembl ID: ENSG00000054598

Description: forkhead box C1

Associated with

Developmental biology
(R-HSA-1266738)
Formation of intermediate mesoderm
(R-HSA-9761174)
Formation of the ureteric bud
(R-HSA-9830674)
Gastrulation
(R-HSA-9758941)
Anatomical structure morphogenesis
(GO:0009653)
Angiogenesis
(GO:0001525)
Apoptotic process involved in outflow tract morphogenesis
(GO:0003275)
Artery morphogenesis
(GO:0048844)
Blood vessel diameter maintenance
(GO:0097746)
Blood vessel remodeling
(GO:0001974)
Camera-type eye development
(GO:0043010)
Cardiac muscle cell proliferation
(GO:0060038)
Cell differentiation
(GO:0030154)
Cell migration
(GO:0016477)
Cell population proliferation
(GO:0008283)
Cellular response to chemokine
(GO:1990869)
Cellular response to epidermal growth factor stimulus
(GO:0071364)
Cerebellum development
(GO:0021549)
Chemokine-mediated signaling pathway
(GO:0070098)
Chromatin
(GO:0000785)
Collagen fibril organization
(GO:0030199)
Cytosol
(GO:0005829)
Dna-binding transcription activator activity, rna polymerase ii-specific
(GO:0001228)
Dna-binding transcription factor activity
(GO:0003700)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna-binding transcription factor binding
(GO:0140297)
Dna binding
(GO:0003677)
Dna binding, bending
(GO:0008301)
Embryonic heart tube development
(GO:0035050)
Endochondral ossification
(GO:0001958)
Eye development
(GO:0001654)
Germ cell migration
(GO:0008354)
Glomerular epithelium development
(GO:0072010)
Glycosaminoglycan metabolic process
(GO:0030203)
Heart development
(GO:0007507)
Heterochromatin
(GO:0000792)
In utero embryonic development
(GO:0001701)
Kidney development
(GO:0001822)
Lacrimal gland development
(GO:0032808)
Lymph vessel development
(GO:0001945)
Maintenance of lens transparency
(GO:0036438)
Mesenchymal cell development
(GO:0014031)
Negative regulation of angiogenesis
(GO:0016525)
Negative regulation of apoptotic process involved in outflow tract morphogenesis
(GO:1902257)
Negative regulation of lymphangiogenesis
(GO:1901491)
Negative regulation of mitotic cell cycle
(GO:0045930)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Neural crest cell development
(GO:0014032)
Notch signaling pathway
(GO:0007219)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Odontogenesis of dentin-containing tooth
(GO:0042475)
Ovarian follicle development
(GO:0001541)
Paraxial mesoderm formation
(GO:0048341)
Positive regulation of core promoter binding
(GO:1904798)
Positive regulation of dna-templated transcription
(GO:0045893)
Positive regulation of dna binding
(GO:0043388)
Positive regulation of epithelial to mesenchymal transition
(GO:0010718)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of hematopoietic progenitor cell differentiation
(GO:1901534)
Positive regulation of hematopoietic stem cell differentiation
(GO:1902038)
Positive regulation of keratinocyte differentiation
(GO:0045618)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Promoter-specific chromatin binding
(GO:1990841)
Protein binding
(GO:0005515)
Regulation of dna-templated transcription
(GO:0006355)
Regulation of organ growth
(GO:0046620)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii-specific dna-binding transcription factor binding
(GO:0061629)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Rna polymerase ii transcription regulatory region sequence-specific dna binding
(GO:0000977)
Sequence-specific dna binding
(GO:0043565)
Somitogenesis
(GO:0001756)
Transcription cis-regulatory region binding
(GO:0000976)
Ureteric bud development
(GO:0001657)
Vascular endothelial growth factor receptor signaling pathway
(GO:0048010)
Vascular endothelial growth factor signaling pathway
(GO:0038084)
Ventricular cardiac muscle tissue morphogenesis
(GO:0055010)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 13.1763
Cell Significance Index: -12.5800
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 12.5784
Cell Significance Index: 106.9100
Cell Name: endocardial cell (CL0002350)
Fold Change: 8.7820
Cell Significance Index: 51.8500
Cell Name: sebaceous gland cell (CL2000021)
Fold Change: 3.6404
Cell Significance Index: 4.7100
Cell Name: kidney cell (CL1000497)
Fold Change: 2.8506
Cell Significance Index: 22.7600
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 2.3447
Cell Significance Index: 143.7600
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 2.2925
Cell Significance Index: 18.9600
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 2.2492
Cell Significance Index: 104.8700
Cell Name: sebum secreting cell (CL0000317)
Fold Change: 2.1516
Cell Significance Index: 152.1700
Cell Name: salivary gland glandular cell (CL1001596)
Fold Change: 1.9915
Cell Significance Index: 11.0900
Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: 1.6603
Cell Significance Index: 27.3600
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 1.4863
Cell Significance Index: 657.1300
Cell Name: endothelial cell of venule (CL1000414)
Fold Change: 1.4286
Cell Significance Index: 16.2300
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1.2486
Cell Significance Index: 64.8600
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 1.0975
Cell Significance Index: 23.4600
Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 1.0766
Cell Significance Index: 19.0300
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.9603
Cell Significance Index: 33.3700
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.8661
Cell Significance Index: 106.5000
Cell Name: keratocyte (CL0002363)
Fold Change: 0.8037
Cell Significance Index: 12.7500
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.7126
Cell Significance Index: 135.6100
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.6608
Cell Significance Index: 119.1200
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.5671
Cell Significance Index: 15.2000
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.4684
Cell Significance Index: 12.7500
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.4450
Cell Significance Index: 44.0200
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.3781
Cell Significance Index: 341.4100
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.3343
Cell Significance Index: 15.7100
Cell Name: seromucus secreting cell (CL0000159)
Fold Change: 0.3078
Cell Significance Index: 6.4200
Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: 0.2845
Cell Significance Index: 2.6200
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.2345
Cell Significance Index: 38.1400
Cell Name: lactocyte (CL0002325)
Fold Change: 0.2220
Cell Significance Index: 28.6900
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.2059
Cell Significance Index: 4.4600
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.1971
Cell Significance Index: 5.6500
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.1879
Cell Significance Index: 102.5900
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.1612
Cell Significance Index: 17.5300
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.0640
Cell Significance Index: 2.9000
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0599
Cell Significance Index: 10.2200
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: 0.0531
Cell Significance Index: 38.9200
Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: 0.0498
Cell Significance Index: 5.6900
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.0487
Cell Significance Index: 3.3700
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.0476
Cell Significance Index: 21.6100
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: 0.0464
Cell Significance Index: 28.9800
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.0213
Cell Significance Index: 1.2800
Cell Name: odontoblast (CL0000060)
Fold Change: 0.0204
Cell Significance Index: 2.6200
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.0170
Cell Significance Index: 0.4900
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0011
Cell Significance Index: -0.0400
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0056
Cell Significance Index: -10.4800
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0082
Cell Significance Index: -6.0500
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0139
Cell Significance Index: -7.8500
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0180
Cell Significance Index: -0.4500
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0199
Cell Significance Index: -12.6500
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.0220
Cell Significance Index: -0.3000
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0234
Cell Significance Index: -17.6800
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0270
Cell Significance Index: -0.7200
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.0346
Cell Significance Index: -1.7500
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0511
Cell Significance Index: -14.7000
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0512
Cell Significance Index: -10.7800
Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.0518
Cell Significance Index: -2.1200
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.0553
Cell Significance Index: -4.3800
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0586
Cell Significance Index: -6.8300
Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.0745
Cell Significance Index: -14.7800
Cell Name: lung microvascular endothelial cell (CL2000016)
Fold Change: -0.0804
Cell Significance Index: -0.6800
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.0896
Cell Significance Index: -2.8700
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0924
Cell Significance Index: -13.4300
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0947
Cell Significance Index: -19.0000
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.1000
Cell Significance Index: -13.7300
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.1026
Cell Significance Index: -10.4800
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1061
Cell Significance Index: -12.1600
Cell Name: airway submucosal gland collecting duct epithelial cell (CL4033023)
Fold Change: -0.1240
Cell Significance Index: -0.8700
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.1415
Cell Significance Index: -16.6900
Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.1578
Cell Significance Index: -8.2200
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1656
Cell Significance Index: -17.2500
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.1746
Cell Significance Index: -13.0100
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.1779
Cell Significance Index: -3.6900
Cell Name: respiratory goblet cell (CL0002370)
Fold Change: -0.1842
Cell Significance Index: -1.9000
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.1986
Cell Significance Index: -5.5500
Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.2137
Cell Significance Index: -3.2200
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.2531
Cell Significance Index: -16.3300
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.2549
Cell Significance Index: -17.1400
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.2591
Cell Significance Index: -16.3300
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.2629
Cell Significance Index: -5.6000
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.2660
Cell Significance Index: -20.4100
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.2914
Cell Significance Index: -17.9100
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: -0.3212
Cell Significance Index: -4.9700
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.3252
Cell Significance Index: -9.5800
Cell Name: vasa recta descending limb cell (CL1001285)
Fold Change: -0.3755
Cell Significance Index: -2.7300
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.3841
Cell Significance Index: -14.1000
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.4027
Cell Significance Index: -22.6000
Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.4174
Cell Significance Index: -18.1500
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.4365
Cell Significance Index: -22.9200
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.4609
Cell Significance Index: -12.3300
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: -0.4798
Cell Significance Index: -6.8300
Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: -0.4845
Cell Significance Index: -6.2600
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.5115
Cell Significance Index: -22.6300
Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: -0.5179
Cell Significance Index: -4.3500
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.5278
Cell Significance Index: -18.4900
Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -0.5590
Cell Significance Index: -13.9400
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: -0.5696
Cell Significance Index: -11.5900
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.5781
Cell Significance Index: -14.8600
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.5895
Cell Significance Index: -19.3000
Cell Name: preosteoblast (CL0007010)
Fold Change: -0.5900
Cell Significance Index: -5.3600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** FOXC1 is a DNA-binding transcription factor that belongs to the forkhead box (Fox) family of transcription factors. It contains a conserved DNA-binding domain and a transcriptional activation domain, which enables it to regulate gene expression. FOXC1 is highly expressed in multiple tissues, including: * Endocardial cells * Acinar cells of the salivary gland * Cortical thymic epithelial cells * Duct epithelial cells * Skeletal muscle satellite stem cells * Colon goblet cells * Cerebral cortex endothelial cells * Leptomeningeal cells * Conjunctival epithelial cells * Vascular leptomeningeal cells **Pathways and Functions** FOXC1 is involved in various biological pathways, including: * Angiogenesis: FOXC1 regulates the expression of vascular endothelial growth factor (VEGF) and vascular endothelial growth factor receptor (VEGFR), which are critical for angiogenesis. * Apoptosis: FOXC1 regulates the expression of pro-apoptotic and anti-apoptotic genes, which are involved in programmed cell death. * Cell migration: FOXC1 regulates the expression of genes involved in cell migration, including those involved in the development of the heart and kidneys. * Developmental biology: FOXC1 is involved in the development of various organs and tissues, including the heart, kidneys, eyes, and salivary glands. * Gene expression: FOXC1 regulates the expression of genes involved in various biological processes, including cell growth, differentiation, and survival. **Clinical Significance** Dysregulation of FOXC1 has been associated with several diseases, including: * Congenital heart defects: Mutations in FOXC1 have been identified in patients with congenital heart defects, including atrial septal defects and ventricular septal defects. * Kidney cancer: FOXC1 is overexpressed in kidney cancer cells and has been implicated in the development and progression of kidney cancer. * Eye disorders: Mutations in FOXC1 have been identified in patients with eye disorders, including congenital glaucoma and uveal melanoma. In addition, FOXC1 has been used as a biomarker for the diagnosis and prognosis of various diseases, including kidney cancer and congenital heart defects. Further research is needed to fully understand the role of FOXC1 in human disease and to develop therapeutic strategies for the treatment of FOXC1-related disorders.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Forkhead box protein C1

Genular Protein ID: 3105280346

Symbol: FOXC1_HUMAN

Name: Forkhead box protein C1

UniProtKB Accession Codes:

Q12948 Q86UP7 Q9BYM1 Q9NUE5 Q9UDD0 Q9UP06

Database IDs:

Citations:

PubMed ID: 9620769

Title: The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

PubMed ID: 9620769

DOI: 10.1038/493

PubMed ID: 9792859

Title: Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

PubMed ID: 9792859

DOI: 10.1086/302109

PubMed ID: 12592227

Title: Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.

PubMed ID: 12592227

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 8499623

Title: Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells.

PubMed ID: 8499623

PubMed ID: 7957066

Title: Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending.

PubMed ID: 7957066

DOI: 10.1002/j.1460-2075.1994.tb06827.x

PubMed ID: 12408963

Title: Identification of FOXC1 as a TGF-beta1 responsive gene and its involvement in negative regulation of cell growth.

PubMed ID: 12408963

DOI: 10.1016/s0888-7543(02)96860-6

PubMed ID: 11782474

Title: FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain.

PubMed ID: 11782474

DOI: 10.1074/jbc.m110266200

PubMed ID: 12533514

Title: Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer.

PubMed ID: 12533514

DOI: 10.1101/gad.1048903

PubMed ID: 15299087

Title: Essential structural and functional determinants within the forkhead domain of FOXC1.

PubMed ID: 15299087

DOI: 10.1093/nar/gkh742

PubMed ID: 15684392

Title: FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner.

PubMed ID: 15684392

DOI: 10.1128/mcb.25.4.1415-1424.2005

PubMed ID: 16492674

Title: Regulation of FOXC1 stability and transcriptional activity by an epidermal growth factor-activated mitogen-activated protein kinase signaling cascade.

PubMed ID: 16492674

DOI: 10.1074/jbc.m513629200

PubMed ID: 17993506

Title: FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A.

PubMed ID: 17993506

DOI: 10.1093/hmg/ddm326

PubMed ID: 18676636

Title: Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells.

PubMed ID: 18676636

DOI: 10.1167/iovs.07-1625

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20406990

Title: FOXC1 is a potential prognostic biomarker with functional significance in basal-like breast cancer.

PubMed ID: 20406990

DOI: 10.1158/0008-5472.can-09-4120

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22991501

Title: FOXC1 contributes to microvascular invasion in primary hepatocellular carcinoma via regulating epithelial-mesenchymal transition.

PubMed ID: 22991501

DOI: 10.7150/ijbs.4769

PubMed ID: 22493429

Title: Small ubiquitin-like modifier (SUMO) modification mediates function of the inhibitory domains of developmental regulators FOXC1 and FOXC2.

PubMed ID: 22493429

DOI: 10.1074/jbc.m112.339424

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 26565916

Title: FOXC1 activates smoothened-independent Hedgehog signaling in basal-like breast cancer.

PubMed ID: 26565916

DOI: 10.1016/j.celrep.2015.09.063

PubMed ID: 27907090

Title: Forkhead Box C1 regulates human primary keratinocyte terminal differentiation.

PubMed ID: 27907090

DOI: 10.1371/journal.pone.0167392

PubMed ID: 11170889

Title: A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

PubMed ID: 11170889

DOI: 10.1086/318183

PubMed ID: 11179011

Title: Analyses of the effects that disease-causing missense mutations have and function of the winged-helix protein FOXC1.

PubMed ID: 11179011

DOI: 10.1086/318792

PubMed ID: 11589884

Title: A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome.

PubMed ID: 11589884

DOI: 10.1016/s0002-9394(01)01059-5

PubMed ID: 11740218

Title: Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.

PubMed ID: 11740218

DOI: 10.1097/00061198-200112000-00007

PubMed ID: 12454026

Title: Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.

PubMed ID: 12454026

PubMed ID: 12614756

Title: A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

PubMed ID: 12614756

DOI: 10.1016/s0002-9394(02)02061-5

PubMed ID: 14506133

Title: Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.

PubMed ID: 14506133

DOI: 10.1093/hmg/ddg324

PubMed ID: 14578375

Title: Identification and analysis of a novel mutation in the FOXC1 forkhead domain.

PubMed ID: 14578375

DOI: 10.1167/iovs.03-0090

PubMed ID: 15477465

Title: Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.

PubMed ID: 15477465

DOI: 10.1001/archopht.122.10.1527

PubMed ID: 15277473

Title: The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.

PubMed ID: 15277473

DOI: 10.1167/iovs.04-0167

PubMed ID: 16449236

Title: Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.

PubMed ID: 16449236

DOI: 10.1093/hmg/ddl008

PubMed ID: 16936096

Title: Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

PubMed ID: 16936096

DOI: 10.1167/iovs.06-0343

PubMed ID: 17210863

Title: Analyses of a novel L130F missense mutation in FOXC1.

PubMed ID: 17210863

DOI: 10.1001/archopht.125.1.128

PubMed ID: 17653043

Title: Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.

PubMed ID: 17653043

PubMed ID: 18484311

Title: Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.

PubMed ID: 18484311

DOI: 10.1080/13816810801908152

PubMed ID: 19793056

Title: Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.

PubMed ID: 19793056

DOI: 10.1111/j.1399-0004.2009.01210.x

PubMed ID: 19279310

Title: Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.

PubMed ID: 19279310

DOI: 10.1167/iovs.08-3032

PubMed ID: 20881294

Title: Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

PubMed ID: 20881294

DOI: 10.1167/iovs.10-5309

PubMed ID: 23239455

Title: Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.

PubMed ID: 23239455

DOI: 10.1002/ajmg.a.35697

PubMed ID: 25786029

Title: Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

PubMed ID: 25786029

DOI: 10.1371/journal.pone.0119272

PubMed ID: 24914578

Title: A novel mutation of FOXC1 (R127L) in an Axenfeld-Rieger syndrome family with glaucoma and multiple congenital heart diseases.

PubMed ID: 24914578

DOI: 10.3109/13816810.2014.924016

PubMed ID: 27804176

Title: Comparison of bioinformatics prediction, molecular modeling, and functional analyses of FOXC1 mutations in patients with Axenfeld-Rieger syndrome.

PubMed ID: 27804176

DOI: 10.1002/humu.23141

Sequence Information:

Length: 553
Mass: 56789
Checksum: 59C6FB94303ED59A
Sequence:

MQARYSVSSP NSLGVVPYLG GEQSYYRAAA AAAGGGYTAM PAPMSVYSHP AHAEQYPGGM 
ARAYGPYTPQ PQPKDMVKPP YSYIALITMA IQNAPDKKIT LNGIYQFIMD RFPFYRDNKQ 
GWQNSIRHNL SLNECFVKVP RDDKKPGKGS YWTLDPDSYN MFENGSFLRR RRRFKKKDAV 
KDKEEKDRLH LKEPPPPGRQ PPPAPPEQAD GNAPGPQPPP VRIQDIKTEN GTCPSPPQPL 
SPAAALGSGS AAAVPKIESP DSSSSSLSSG SSPPGSLPSA RPLSLDGADS APPPPAPSAP 
PPHHSQGFSV DNIMTSLRGS PQSAAAELSS GLLASAAASS RAGIAPPLAL GAYSPGQSSL 
YSSPCSQTSS AGSSGGGGGG AGAAGGAGGA GTYHCNLQAM SLYAAGERGG HLQGAPGGAG 
GSAVDDPLPD YSLPPVTSSS SSSLSHGGGG GGGGGGQEAG HHPAAHQGRL TSWYLNQAGG 
DLGHLASAAA AAAAAGYPGQ QQNFHSVREM FESQRIGLNN SPVNGNSSCQ MAFPSSQSLY 
RTSGAFVYDC SKF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: FOXC1

Associated with

Cells (max top 100)

Other Information

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. PubMed ID: 9620769

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. PubMed ID: 9792859

Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India. PubMed ID: 12592227

The DNA sequence and analysis of human chromosome 6. PubMed ID: 14574404

Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells. PubMed ID: 8499623

Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. PubMed ID: 7957066

Identification of FOXC1 as a TGF-beta1 responsive gene and its involvement in negative regulation of cell growth. PubMed ID: 12408963

FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain. PubMed ID: 11782474

Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. PubMed ID: 12533514

Essential structural and functional determinants within the forkhead domain of FOXC1. PubMed ID: 15299087

FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner. PubMed ID: 15684392

Regulation of FOXC1 stability and transcriptional activity by an epidermal growth factor-activated mitogen-activated protein kinase signaling cascade. PubMed ID: 16492674

FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A. PubMed ID: 17993506

Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells. PubMed ID: 18676636

Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. PubMed ID: 18691976

A quantitative atlas of mitotic phosphorylation. PubMed ID: 18669648

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. PubMed ID: 19690332

FOXC1 is a potential prognostic biomarker with functional significance in basal-like breast cancer. PubMed ID: 20406990

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. PubMed ID: 20068231

FOXC1 contributes to microvascular invasion in primary hepatocellular carcinoma via regulating epithelial-mesenchymal transition. PubMed ID: 22991501

Small ubiquitin-like modifier (SUMO) modification mediates function of the inhibitory domains of developmental regulators FOXC1 and FOXC2. PubMed ID: 22493429

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

FOXC1 activates smoothened-independent Hedgehog signaling in basal-like breast cancer. PubMed ID: 26565916

Forkhead Box C1 regulates human primary keratinocyte terminal differentiation. PubMed ID: 27907090

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. PubMed ID: 11170889

Analyses of the effects that disease-causing missense mutations have and function of the winged-helix protein FOXC1. PubMed ID: 11179011

A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome. PubMed ID: 11589884

Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. PubMed ID: 11740218

Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly. PubMed ID: 12454026

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. PubMed ID: 12614756

Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1. PubMed ID: 14506133

Identification and analysis of a novel mutation in the FOXC1 forkhead domain. PubMed ID: 14578375

Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family. PubMed ID: 15477465

The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions. PubMed ID: 15277473

Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. PubMed ID: 16449236

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. PubMed ID: 16936096

Analyses of a novel L130F missense mutation in FOXC1. PubMed ID: 17210863

Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. PubMed ID: 17653043

Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. PubMed ID: 18484311

Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. PubMed ID: 19793056

Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. PubMed ID: 19279310

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. PubMed ID: 20881294

Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. PubMed ID: 23239455

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. PubMed ID: 25786029

A novel mutation of FOXC1 (R127L) in an Axenfeld-Rieger syndrome family with glaucoma and multiple congenital heart diseases. PubMed ID: 24914578

Comparison of bioinformatics prediction, molecular modeling, and functional analyses of FOXC1 mutations in patients with Axenfeld-Rieger syndrome. PubMed ID: 27804176