DegronMD - Q12948(FOXC1)

FUNCTION: 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}. View more >>

GO - Biological processes (BP): anatomical structure morphogenesis [GO:0009653]; angiogenesis [GO:0001525]; 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]; collagen fibril organization [GO:0030199]; 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]; 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]; 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 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, DNA-templated [GO:0045893]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of organ growth [GO:0046620]; regulation of transcription, DNA-templated [GO:0006355]; regulation of transcription by RNA polymerase II [GO:0006357]; somitogenesis [GO:0001756]; 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] View more >>

GO - Molecular function (MF): View more >>

GO - Cellular component (CC): View more >>

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Open in full screen with detailed sequence annotations

Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.S441L	DO222834	BTCA	ICGC	PVTSS	DEG_SPOP_SBC_1	435:439	Mutation rewiring degron network	0.2778
p.S441L	DO222834	BTCA	ICGC	DDPLPDYSLPP	CBL_PTK	425:435	Mutation rewiring degron network	0.1667
p.S262N	DO222842	COCA	ICGC	PDSSS	DEG_SPOP_SBC_1	260:264	Mutation altering degron motif	0.7069
p.A251T	DO233109	GACA	ICGC	PDSSS	DEG_SPOP_SBC_1	260:264	Mutation rewiring degron network	0.0833
p.S272N	DO233882	GACA	ICGC	PDSSS	DEG_SPOP_SBC_1	260:264	Mutation blocking phosphorylation signal	0.5556
p.G421V	DO50875	LICA	ICGC	DDPLPDYSLPP	CBL_PTK	425:435	Mutation rewiring degron network	0.2222
p.G417A	DO229227	THCA	ICGC	DDPLPDYSLPP	CBL_PTK	425:435	Mutation rewiring degron network	0.1111
p.G417R	DO229227	THCA	ICGC	DDPLPDYSLPP	CBL_PTK	425:435	Mutation rewiring degron network	0.1111
p.A253V	SIDM01307	Colorectal Carcinoma	GDSC	PDSSS	DEG_SPOP_SBC_1	260:264	Mutation rewiring degron network	0.1389
p.A415T	ACH-001341	Cervical Cancer	CCLE	DDPLPDYSLPP	CBL_PTK	425:435	Mutation rewiring degron network	0.0556

DegronMD: protein-targeted degradation, mutation and drug response to degrons

FOXC1

UniProt ID: Q12948

Entrez ID: 2296

Protein name: Forkhead box protein C1 (Forkhead-related protein FKHL7) (Forkhead-related transcription factor 3) (FREAC-3)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for FOXC1 in