{ "uniprot_canonical_ac": "Q61572-1", "uniprot_ac": "Q61572", "uniprot_id": "FOXC1_MOUSE", "mass": { "chemical_mass": 56940.0, "monoisotopic_mass": 56940.0 }, "refseq": { "ac": "NP_032618", "name": "forkhead box protein C1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032618" }, "gene_names": [ { "name": "Foxc1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q61572", "id": "Q61572" }, { "name": "Fkh1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q61572", "id": "Q61572" }, { "name": "Fkhl7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q61572", "id": "Q61572" }, { "name": "Foxc1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032618", "id": "NP_032618" }, { "name": "Freac3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q61572", "id": "Q61572" }, { "name": "Mf1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q61572", "id": "Q61572" }, { "name": "ch; fkh-1; Fkh1; FREAC3; frkhda; Mf1; Mf4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032618", "id": "NP_032618" } ], "protein_names": [ { "name": "Forkhead box protein C1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q61572" }, { "name": "FREAC-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q61572" }, { "name": "Forkhead-related protein FKHL7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q61572" }, { "name": "Forkhead-related transcription factor 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q61572" }, { "name": "MF-1; FREAC-3; transcription factor FKH-1; forkhead-related protein FKHL7; forkhead-related transcription factor 3; congenital hydrocephalus; mesoderm/mesenchyme forkhead 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032618", "id": "NP_032618" }, { "name": "MF-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q61572" }, { "name": "Mesoderm/mesenchyme forkhead 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q61572" }, { "name": "Transcription factor FKH-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q61572" }, { "name": "forkhead box protein C1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032618", "id": "NP_032618" } ], "function": [ { "annotation": "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:9635428, PubMed:9106663, PubMed:10479458, PubMed:10395790, PubMed:11562355, PubMed:18187037, PubMed:19668217, PubMed:22493429, PubMed:24590069, PubMed:25808752, PubMed:28223138). Acts either as a transcriptional activator or repressor (PubMed:28223138). Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes (PubMed:25808752). Upon DNA-binding, promotes DNA bending. Acts as a transcriptional coactivator (PubMed:25808752). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (PubMed:25808752). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells. 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 (By similarity). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (PubMed:28223138). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals. Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (By similarity). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (PubMed:18187037). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (By similarity). Essential developmental transcriptional factor required for mesoderm-derived tissues formation, such as the somites, skin, bone and cartilage (PubMed:9106663, PubMed:10479458, PubMed:10395790, PubMed:10704385, PubMed:11562355, PubMed:15196959). 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) (PubMed:24590069). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner (PubMed:22171010). May function as a tumor suppressor (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572#function" }, { "database": "UniProtKB", "id": "Q12948", "url": "https://www.uniprot.org/uniprot/Q12948#function" }, { "database": "PubMed", "id": "25808752", "url": "https://glygen.org/publication/PubMed/25808752" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" }, { "database": "PubMed", "id": "9106663", "url": "https://glygen.org/publication/PubMed/9106663" }, { "database": "PubMed", "id": "9635428", "url": "https://glygen.org/publication/PubMed/9635428" }, { "database": "PubMed", "id": "28223138", "url": "https://glygen.org/publication/PubMed/28223138" }, { "database": "PubMed", "id": "24590069", "url": "https://glygen.org/publication/PubMed/24590069" }, { "database": "PubMed", "id": "10704385", "url": "https://glygen.org/publication/PubMed/10704385" }, { "database": "PubMed", "id": "18187037", "url": "https://glygen.org/publication/PubMed/18187037" }, { "database": "PubMed", "id": "10479458", "url": "https://glygen.org/publication/PubMed/10479458" }, { "database": "PubMed", "id": "15196959", "url": "https://glygen.org/publication/PubMed/15196959" }, { "database": "PubMed", "id": "10395790", "url": "https://glygen.org/publication/PubMed/10395790" }, { "database": "PubMed", "id": "22171010", "url": "https://glygen.org/publication/PubMed/22171010" }, { "database": "PubMed", "id": "19668217", "url": "https://glygen.org/publication/PubMed/19668217" }, { "database": "PubMed", "id": "11562355", "url": "https://glygen.org/publication/PubMed/11562355" } ] }, { "annotation": "Endothelial FOXC1 and FOXC2 promote intestinal regeneration after ischemia-reperfusion injury.", "evidence": [ { "database": "RefSeq", "id": "NP_032618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032618" }, { "database": "PubMed", "id": "37154714", "url": "https://glygen.org/publication/PubMed/37154714" } ] } ], "disease": [ { "disease_id": "DOID:0080608", "recommended_name": { "id": "DOID:0080608", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080608", "name": "anterior segment dysgenesis 3", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25." }, "synonyms": [ { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "anterior segment dysgenesis 3", "description": "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "ASGD3", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "FOXC1 iridogoniodysgenesis", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "IGDA", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "IGDA syndrome", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "IRID1", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "anterior segment dysgenesis 3", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "anterior segment dysgenesis 3, multiple subtypes", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "iridogoniodysgenesis anomaly, autosomal dominant", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "iridogoniodysgenesis caused by mutation in FOXC1", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "iridogoniodysgenesis type 1", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "iridogoniodysgenesis, type 1", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "glaucoma iridogoniodysgenesia", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "glaucoma iridogoniodysplasia, familial", "description": "" }, { "id": "MONDO:0024456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024456", "name": "iris hypoplasia with glaucoma", "description": "" }, { "id": "MIM:601631", "resource": "MIM", "url": "https://www.omim.org/entry/601631", "name": "Anterior segment dysgenesis 3", "description": "Anterior segment dysgenesis 3" } ], "evidence": [ { "id": "0080608", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080608" } ] }, { "disease_id": "DOID:0110122", "recommended_name": { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110122", "name": "Axenfeld-Rieger syndrome type 3", "description": "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25." }, "synonyms": [ { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110122", "name": "RIEG3", "description": "" }, { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110122", "name": "Rieger syndrome type 3", "description": "" }, { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110122", "name": "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss", "description": "" }, { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110122", "name": "anterior chamber cleavage syndrome", "description": "" }, { "id": "DOID:0110122", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110122", "name": "anterior segment mesenchymal dysgenesis", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger syndrome type 3", "description": "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene." }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger syndrome caused by mutation in FOXC1", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger syndrome type 3", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "FOXC1 Axenfeld-Rieger syndrome", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "RIEG3", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Rieger syndrome type 3", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "anterior chamber cleavage syndrome", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld anomaly", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger anomaly", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Axenfeld-Rieger syndrome, type 3", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Rieger anomaly", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "Rieger syndrome, type 3", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "anterior chamber Cleavage syndrome", "description": "" }, { "id": "MONDO:0011233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011233", "name": "anterior segment mesenchymal dysgenesis", "description": "" }, { "id": "MIM:602482", "resource": "MIM", "url": "https://www.omim.org/entry/602482", "name": "Axenfeld-Rieger syndrome 3", "description": "Axenfeld-Rieger syndrome 3" } ], "evidence": [ { "id": "0110122", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110122" } ] }, { "disease_id": "DOID:11211", "recommended_name": { "id": "DOID:11211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11211", "name": "buphthalmos", "description": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss." }, "synonyms": [ { "id": "DOID:11211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11211", "name": "simple buphthalmos", "description": "" }, { "id": "DOID:11211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11211", "name": "primary congenital glaucoma 3A", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "glaucoma 3A", "description": "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1." }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "buphthalmos", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "Primary Congenital glaucoma 3A", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "glaucoma 3, primary congenital, type a", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "glaucoma 3A, primary open angle, congenital, juvenile, or adult onset", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "simple buphthalmos", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "GLC3A", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "glaucoma 3, primary congenital, A", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "glaucoma, congenital", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MONDO:0009277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009277", "name": "glaucoma, primary open angle, juvenile-onset", "description": "" }, { "id": "MIM:231300", "resource": "MIM", "url": "https://www.omim.org/entry/231300", "name": "Glaucoma 3, primary congenital, A", "description": "Glaucoma 3, primary congenital, A" } ], "evidence": [ { "id": "11211", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11211" } ] }, { "disease_id": "DOID:14686", "recommended_name": { "id": "DOID:14686", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14686", "name": "Axenfeld-Rieger syndrome", "description": "An eye disease characterized by abnormalities of the front part of the eye, the anterior segment." }, "synonyms": [ { "id": "DOID:14686", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14686", "name": "Anomaly, Rieger's", "description": "" }, { "id": "DOID:14686", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14686", "name": "Axenfeld syndrome", "description": "" }, { "id": "DOID:14686", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14686", "name": "RGS - Rieger syndrome", "description": "" }, { "id": "DOID:14686", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14686", "name": "Rieger's anomaly", "description": "" } ], "evidence": [ { "id": "14686", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14686" } ] }, { "disease_id": "DOID:1686", "recommended_name": { "id": "DOID:1686", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function." }, "synonyms": [], "evidence": [ { "id": "1686", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ] }, { "disease_id": "DOID:3008", "recommended_name": { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated." }, "synonyms": [ { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "Infiltrating ductal carcinoma of breast", "description": "" }, { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "Invasive ductal carcinoma, NST", "description": "" }, { "id": "DOID:3008", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3008", "name": "ductal adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3008", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ] }, { "disease_id": "DOID:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 112, "end_pos": 112, "sequence_org": "F", "sequence_mut": "S", "comment": "Inhibits interaction with GLI2. Decreased nuclear colocalization with GLI2. No effect on DNA-binding. Decreased Ihh-induced transcriptional activity and transcription coactivator activity with GLI2.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "25808752", "url": "https://glygen.org/publication/PubMed/25808752" } ] }, { "start_pos": 229, "end_pos": 229, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on protein stability, inhibited sumoylation, increased transcriptional activity; when associated with R-258.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" } ] }, { "start_pos": 237, "end_pos": 237, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation; when associated with 6-A--A-9; A-243; A-320 and A-521.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" } ] }, { "start_pos": 243, "end_pos": 243, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation; when associated with 6-A--A-9; A-237; A-320 and A-521.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" } ] }, { "start_pos": 258, "end_pos": 258, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on protein stability, inhibited sumoylation, increased transcriptional activity; when associated with R-229.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" } ] }, { "start_pos": 320, "end_pos": 320, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation; when associated with 6-A--A-9; A-237; A-243 and A-521.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" } ] }, { "start_pos": 521, "end_pos": 521, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation; when associated with 6-A--A-9; A-237; A-243 and A-320.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" } ] }, { "start_pos": 6, "end_pos": 9, "sequence_org": "SVSS", "sequence_mut": "AVAA", "comment": "No effect on sumoylation; when associated with A-237; A-243; A-320 and A-521.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Foxc1", "url": "https://www.uniprot.org/uniprot/Q61572", "locus": { "chromosome": "13", "start_pos": 31996459, "end_pos": 31990616, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000050295", "url": "https://www.ensembl.org/id/ENSMUSG00000050295" } ] } } ], "crossref": [ { "id": "ENSMUSG00000050295", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000050295", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd20044", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20044", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "17300", "url": "https://www.ncbi.nlm.nih.gov/gene/17300", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q61572", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q61572*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001766", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001766", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018122", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018122", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030456", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030456", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036390", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047391", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047391", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:17300", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:17300", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "1347466", "url": "http://www.informatics.jax.org/marker/MGI:1347466", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "Q61572", "url": "https://oglcnac.org/atlas/detail/Q61572", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q61572", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61572", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "TSWYLNQ", "url": "https://omabrowser.org/oma/group/TSWYLNQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5385885at2759", "url": "http://www.orthodb.org/?query=5385885at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11829", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11829", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11829:SF68", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11829:SF68", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00250", "url": "http://pfam.xfam.org/family/PF00250", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q61572", "url": "http://purl.obolibrary.org/obo/PR_Q61572", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_032618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032618", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q61572-1", "url": "https://www.uniprot.org/uniprot/Q61572-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGSMARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAVKDKEEKGRLHLQEPPPPQAGRQPAPAPPEQAEGSAPGPQPPPVRIQDIKTENGTCPSPPQPLSPAAALGSGSAATVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDAAEPAPPPQPAPPPHHSQGFSVDNIMTSLRGSPQGSAAELGSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQSSSAGSSGGGGGGGGGGGGSSSAAGTGGAATYHCNLQAMSLYAAGERGGHLQGPAGGAGSAAVDDPLPDYSLPPATSSSSSSLSHGGGGQEASHHPASHQGRLTSWYLNQAGGDLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPASQSLYRTSGAFVYDCSKF", "length": 553, "header": "sp|Q61572-1|FOXC1_MOUSE Isoform 1 of Forkhead box protein C1 OS=Mus musculus OX=10090 GN=Foxc1 PE=1 SV=3 CANONICAL=Q61572-1" }, "isoforms": [ { "isoform_ac": "Q61572-1", "url": "", "sequence": { "sequence": "MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGSMARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAVKDKEEKGRLHLQEPPPPQAGRQPAPAPPEQAEGSAPGPQPPPVRIQDIKTENGTCPSPPQPLSPAAALGSGSAATVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDAAEPAPPPQPAPPPHHSQGFSVDNIMTSLRGSPQGSAAELGSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQSSSAGSSGGGGGGGGGGGGSSSAAGTGGAATYHCNLQAMSLYAAGERGGHLQGPAGGAGSAAVDDPLPDYSLPPATSSSSSSLSHGGGGQEASHHPASHQGRLTSWYLNQAGGDLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPASQSLYRTSGAFVYDCSKF", "length": 553, "header": "sp|Q61572-1|FOXC1_MOUSE Isoform 1 of Forkhead box protein C1 OS=Mus musculus OX=10090 GN=Foxc1 PE=1 SV=3 CANONICAL=Q61572-1" }, "locus": { "chromosome": "13", "start_pos": 31992849, "end_pos": 31991191, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000062292", "url": "https://www.ensembl.org/id/ENSMUST00000062292" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000052196", "url": "https://www.ensembl.org/id/ENSMUSP00000052196" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 340, "start_aa": "Ser", "end_pos": 340, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser340", "evidence": [ { "id": "Q61572", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61572" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q61572", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61572" }, { "id": "20665223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20665223" } ] } ], "phosphorylation": [ { "start_pos": 237, "end_pos": 237, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61572" } ], "site_lbl": "Ser237" }, { "start_pos": 243, "end_pos": 243, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61572" } ], "site_lbl": "Ser243" }, { "start_pos": 274, "end_pos": 274, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "site_lbl": "Ser274" }, { "start_pos": 320, "end_pos": 320, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" }, { "database": "iPTMnet", "id": "Q61572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61572" } ], "site_lbl": "Ser320" }, { "start_pos": 521, "end_pos": 521, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" }, { "database": "iPTMnet", "id": "Q61572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61572" } ], "site_lbl": "Ser521" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye.", "journal": "Dev. Biol.", "date": "1999", "authors": "Deng K., Kume T., Hogan B.L., Winfrey V., Kidson S.H.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "10395790", "url": "https://glygen.org/publication/PubMed/10395790" } ] }, { "title": "Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles.", "journal": "Dev. Biol.", "date": "1999", "authors": "Deng K., Kume T., Walter M.A., Conway S.J., Rogers R., Hogan B.L., Winnier G.E., Bundy J., Raines C.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "10479458", "url": "https://glygen.org/publication/PubMed/10479458" } ] }, { "title": "Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract.", "journal": "Development", "date": "2000", "authors": "Deng K., Kume T., Hogan B.L.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "10704385", "url": "https://glygen.org/publication/PubMed/10704385" } ] }, { "title": "The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis.", "journal": "Genes Dev.", "date": "2001", "authors": "Kume T, Jiang H, Topczewska JM, Hogan BL", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "11562355", "url": "https://glygen.org/publication/PubMed/11562355" } ] }, { "title": "The forkhead genes, Foxc1 and Foxc2, regulate paraxial versus intermediate mesoderm cell fate.", "journal": "Dev. Biol.", "date": "2004", "authors": "Wilm B, James RG, Schultheiss TM, Hogan BL", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "15196959", "url": "https://glygen.org/publication/PubMed/15196959" } ] }, { "title": "Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.", "journal": "Hum. Mol. Genet.", "date": "2006", "authors": "Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ, Walter MA", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "16449236", "url": "https://glygen.org/publication/PubMed/16449236" } ] }, { "title": "Forkhead transcription factors regulate expression of the chemokine receptor CXCR4 in endothelial cells and CXCL12-induced cell migration.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2008", "authors": "Hayashi H., Kume T.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "18187037", "url": "https://glygen.org/publication/PubMed/18187037" } ] }, { "title": "FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.", "journal": "Nat. Genet.", "date": "2009", "authors": "Dobyns W.B., Ades L.C., Krantz I.D., Hudgins L., Bassuk A.G., Chizhikov V.V., Lehmann O.J., Aldinger K.A., Millen K.J.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "19668217", "url": "https://glygen.org/publication/PubMed/19668217" } ] }, { "title": "O-GlcNAcylation of tubulin inhibits its polymerization.", "journal": "Amino acids", "date": "2011", "authors": "Ji S, Kang JG, Park SY, Lee J, Oh YJ, Cho JW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q61572", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61572" } ], "reference": [ { "type": "PubMed", "id": "20665223", "url": "https://glygen.org/publication/PubMed/20665223" } ] }, { "title": "A tissue-specific atlas of mouse protein phosphorylation and expression.", "journal": "Cell", "date": "2010", "authors": "Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "iPTMnet", "id": "Q61572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61572" } ], "reference": [ { "type": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] }, { "title": "Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2012", "authors": "Liu T., Kume T., Seo S., Fatima A., Lehmann O.J., Singh H.P., Lacal P.M., Losordo D.W., Sasman A., Schultz K.M.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "22171010", "url": "https://glygen.org/publication/PubMed/22171010" } ] }, { "title": "Small ubiquitin-like modifier (SUMO) modification mediates function of the inhibitory domains of developmental regulators FOXC1 and FOXC2.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Danciu TE, Chupreta S, Cruz O, Fox JE, Whitman M, Iniguez-Lluhi JA", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" }, { "database": "iPTMnet", "id": "Q61572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61572" } ], "reference": [ { "type": "PubMed", "id": "22493429", "url": "https://glygen.org/publication/PubMed/22493429" } ] }, { "title": "Foxc1 is a critical regulator of haematopoietic stem/progenitor cell niche formation.", "journal": "Nature", "date": "2014", "authors": "Sugiyama T., Kume T., Seike M., Nagasawa T., Omatsu Y.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "24590069", "url": "https://glygen.org/publication/PubMed/24590069" } ] }, { "title": "The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification.", "journal": "Nat. Commun.", "date": "2015", "authors": "Yoshida M, Hata K, Takashima R, Ono K, Nakamura E, Takahata Y, Murakami T, Iseki S, Takano-Yamamoto T, Nishimura R, Yoneda T", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "25808752", "url": "https://glygen.org/publication/PubMed/25808752" } ] }, { "title": "FOXC1 activates smoothened-independent Hedgehog signaling in basal-like breast cancer.", "journal": "Cell Rep.", "date": "2015", "authors": "Han B, Qu Y, Jin Y, Yu Y, Deng N, Wawrowsky K, Zhang X, Li N, Bose S, Wang Q, Sakkiah S, Abrol R, Jensen TW, Berman BP, Tanaka H, Johnson J, Gao B, Hao J, Liu Z, Buttyan R, Ray PS, Hung MC, Giuliano AE, Cui X", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "26565916", "url": "https://glygen.org/publication/PubMed/26565916" } ] }, { "title": "Foxc1 and Foxc2 are necessary to maintain glomerular podocytes.", "journal": "Exp. Cell Res.", "date": "2017", "authors": "Motojima M, Kume T, Matsusaka T", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "28223138", "url": "https://glygen.org/publication/PubMed/28223138" } ] }, { "title": "Cytosolic N-GlcNAc proteins are formed by the action of endo-beta-N-acetylglucosaminidase.", "journal": "Biochemical and biophysical research communications", "date": "2020", "authors": "Maynard JC, Fujihira H, Dolgonos GE, Suzuki T, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q61572", "url": "https://oglcnac.org/atlas/detail/Q61572" } ], "reference": [ { "type": "PubMed", "id": "32782141", "url": "https://glygen.org/publication/PubMed/32782141" } ] }, { "title": "Endothelial FOXC1 and FOXC2 promote intestinal regeneration after ischemia-reperfusion injury.", "journal": "EMBO reports", "date": "2023-07-05", "authors": "Tan Can, Norden Pieter R, Yu Wei, Liu Ting, Ujiie Naoto, Lee Sun Kyong, Yan Xiaocai, Dyakiv Yaryna, Aoto Kazushi, Ortega Sagrario, De Plaen Isabelle G, Sampath Venkatesh, Kume Tsutomu", "evidence": [ { "database": "RefSeq", "id": "NP_032618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032618" } ], "reference": [ { "type": "PubMed", "id": "37154714", "url": "https://glygen.org/publication/PubMed/37154714" } ] }, { "title": "Six members of the mouse forkhead gene family are developmentally regulated.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1993", "authors": "Hiemisch H., Kaestner K.H., Lee K.H., Schuetz G., Monaghan A.P., Schloendorff J.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "7689224", "url": "https://glygen.org/publication/PubMed/7689224" } ] }, { "title": "Differential expression of multiple fork head related genes during gastrulation and axial pattern formation in the mouse embryo.", "journal": "Development", "date": "1993", "authors": "Sasaki H, Hogan BL", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "8375339", "url": "https://glygen.org/publication/PubMed/8375339" } ] }, { "title": "The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo.", "journal": "Genes Dev.", "date": "1997", "authors": "Hogan B.L., Winnier G.E., Hargett L.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "9106663", "url": "https://glygen.org/publication/PubMed/9106663" } ] }, { "title": "The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.", "journal": "Cell", "date": "1998", "authors": "Kume T., Gould D.B., Walter M.A., Hogan B.L.M., Deng K.Y., Winfrey V.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "9635428", "url": "https://glygen.org/publication/PubMed/9635428" } ] }, { "title": "The mouse Fkh1/Mf1 gene: cDNA sequence, chromosomal localization and expression in adult tissues.", "journal": "Gene", "date": "1998", "authors": "Hiemisch H., Kaestner K.H., Schutz G.", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "reference": [ { "type": "PubMed", "id": "9767123", "url": "https://glygen.org/publication/PubMed/9767123" } ] } ], "pathway": [ { "id": "mmu:17300", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:17300", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6GKJ4-1", "protein_name": "Forkhead box C1", "gene_name": "Foxc1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "neural crest cell development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle", "id": "GO:0045930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045930", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "glycosaminoglycan metabolic process", "id": "GO:0030203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030203", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "regulation of organ growth", "id": "GO:0046620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046620", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "positive regulation of DNA binding", "id": "GO:0043388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043388", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": "https://www.uniprot.org/uniprot/Q61572" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q61572", "url": 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