Gene FOXC1 - ENSG00000054598 | NCBI Gene ID: 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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: endocardial cell (CL0002350)
Fold Change: 4.77
Marker Score: 2695
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 2.75
Marker Score: 6272
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 1.94
Marker Score: 7187
Cell Name: duct epithelial cell (CL0000068)
Fold Change: 1.74
Marker Score: 812.5
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 1.63
Marker Score: 1742
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.59
Marker Score: 1155
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 1.54
Marker Score: 920
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 1.53
Marker Score: 757
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.5
Marker Score: 1581
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 1.45
Marker Score: 1669
Cell Name: keratocyte (CL0002363)
Fold Change: 1.4
Marker Score: 322
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 1.38
Marker Score: 1179
Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: 1.34
Marker Score: 323
Cell Name: lung microvascular endothelial cell (CL2000016)
Fold Change: 1.31
Marker Score: 279
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1.3
Marker Score: 1920
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 1.25
Marker Score: 843
Cell Name: squamous epithelial cell (CL0000076)
Fold Change: 1.23
Marker Score: 835
Cell Name: kidney cell (CL1000497)
Fold Change: 1.22
Marker Score: 811
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 1.18
Marker Score: 2457
Cell Name: epithelial cell of glomerular capsule (CL1000450)
Fold Change: 1.09
Marker Score: 278.5
Cell Name: preosteoblast (CL0007010)
Fold Change: 1.08
Marker Score: 305
Cell Name: glandular cell of esophagus (CL0002657)
Fold Change: 1.06
Marker Score: 335
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 1.05
Marker Score: 2315
Cell Name: osteoblast (CL0000062)
Fold Change: 1.03
Marker Score: 555
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71798
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48024
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30407
Cell Name: respiratory goblet cell (CL0002370)
Fold Change: 0.98
Marker Score: 282
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.97
Marker Score: 500
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.96
Marker Score: 454
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2410
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.91
Marker Score: 366
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2731
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.91
Marker Score: 2432
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.89
Marker Score: 320
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.89
Marker Score: 5055
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5277
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 0.85
Marker Score: 668
Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 0.85
Marker Score: 1689
Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: 0.83
Marker Score: 347
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 0.81
Marker Score: 1324
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.8
Marker Score: 1878
Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 0.79
Marker Score: 1151
Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 0.78
Marker Score: 1324
Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 0.77
Marker Score: 6712
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.77
Marker Score: 1247
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 699
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.75
Marker Score: 389
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.74
Marker Score: 568
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.71
Marker Score: 722
Cell Name: bronchial goblet cell (CL1000312)
Fold Change: 0.69
Marker Score: 340
Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
Fold Change: 0.69
Marker Score: 166
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 176
Cell Name: vein endothelial cell (CL0002543)
Fold Change: 0.67
Marker Score: 604
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.66
Marker Score: 2762.5
Cell Name: ciliated cell (CL0000064)
Fold Change: 0.66
Marker Score: 2264
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 0.65
Marker Score: 377
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.64
Marker Score: 233
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.64
Marker Score: 201
Cell Name: podocyte (CL0000653)
Fold Change: 0.63
Marker Score: 234
Cell Name: multi-ciliated epithelial cell (CL0005012)
Fold Change: 0.63
Marker Score: 1197
Cell Name: tracheobronchial serous cell (CL0019001)
Fold Change: 0.6
Marker Score: 218
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.58
Marker Score: 19665
Cell Name: endothelial cell (CL0000115)
Fold Change: 0.57
Marker Score: 514
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.57
Marker Score: 366
Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 0.57
Marker Score: 380
Cell Name: lung secretory cell (CL1000272)
Fold Change: 0.57
Marker Score: 506
Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 0.56
Marker Score: 988
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 444
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.55
Marker Score: 147
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.54
Marker Score: 360
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 0.54
Marker Score: 138
Cell Name: serous secreting cell (CL0000313)
Fold Change: 0.54
Marker Score: 216
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.54
Marker Score: 171
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.54
Marker Score: 257
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.54
Marker Score: 222
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.53
Marker Score: 568
Cell Name: fibroblast of breast (CL4006000)
Fold Change: 0.52
Marker Score: 296
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 0.52
Marker Score: 571
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 0.51
Marker Score: 542
Cell Name: Unknown (CL0002371)
Fold Change: 0.51
Marker Score: 537
Cell Name: basal cell (CL0000646)
Fold Change: 0.5
Marker Score: 651
Cell Name: vascular associated smooth muscle cell (CL0000359)
Fold Change: 0.5
Marker Score: 228
Cell Name: vasa recta ascending limb cell (CL1001131)
Fold Change: 0.49
Marker Score: 130
Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 0.49
Marker Score: 422
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.49
Marker Score: 995
Cell Name: endothelial cell of artery (CL1000413)
Fold Change: 0.49
Marker Score: 202
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.49
Marker Score: 1727
Cell Name: precursor cell (CL0011115)
Fold Change: 0.49
Marker Score: 118
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.47
Marker Score: 7375
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 0.47
Marker Score: 151
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 0.46
Marker Score: 290
Cell Name: vasa recta descending limb cell (CL1001285)
Fold Change: 0.44
Marker Score: 122
Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 0.44
Marker Score: 97
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.44
Marker Score: 2656.5
Cell Name: fibroblast (CL0000057)
Fold Change: 0.44
Marker Score: 425
Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 0.44
Marker Score: 169
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 0.42
Marker Score: 194
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.42
Marker Score: 1036
Cell Name: nephron tubule epithelial cell (CL1000494)
Fold Change: 0.42
Marker Score: 99

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**Key characteristics:** - The FOXC1 gene is located on chromosome 17q21. - It is a member of the forkhead family of transcription factors. - It is expressed in a variety of cell types, including endocardial cells, acinar cells of the salivary gland, and renal cells. **Pathways and functions:** - FOXC1 is a key regulator of mesoderm formation. It is required for the development of the cardiovascular, renal, and gastrointestinal systems. - It is also involved in the development of the neural tube and the formation of the urogenital ridge. - In the cardiovascular system, FOXC1 is important for the specification of the heart field and the development of the heart tube. - In the renal system, FOXC1 is essential for the formation of the kidney and the development of the renal tubule. - In the gastrointestinal system, FOXC1 is involved in the development of the stomach, small intestine, and colon. **Clinical significance:** - Mutations in the FOXC1 gene have been linked to a number of human diseases, including cardiovascular disease, kidney disease, and cancer. - The FOXC1 gene is a promising target for the treatment of these diseases. **Additional notes:** - FOXC1 is a highly conserved gene, with a similar gene found in mice and zebrafish. - The expression of FOXC1 is regulated by a number of factors, including the transcription factor Gata6. - FOXC1 is a potent transcriptional activator, and its activity is regulated by a number of factors, including the microRNAs miR-124 and miR-29.

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. 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