• Gene id: 2296

Gene Summary

• Gene Symbol: FOXC1   Gene   UCSC   Ensembl
• Aliases: ARA, ASGD3, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1, RIEG3
• Gene name: forkhead box C1
• Alternate names: forkhead box protein C1, forkhead box C1 protein, forkhead, drosophila, homolog-like 7, forkhead-related activator 3, forkhead-related protein FKHL7, forkhead-related transcription factor 3, forkhead/winged helix-like transcription factor 7, myeloid factor-delta,
• Gene location: 6p25.3 (1609914: 1613896)     Exons: 1     NC_000006.12
• Gene summary(Entrez): This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulatio
• OMIM: 604810

Protein Summary

• Protein general information: Q12948  
  • Name: Forkhead box protein C1 (Forkhead related protein FKHL7) (Forkhead related transcription factor 3) (FREAC 3)
  • Length: 553  
  • Mass: 56789
  • Tissue specificity: Expressed in keratinocytes of epidermis and hair follicle (PubMed
• Sequence:

  MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAYGPYTPQPQPKD
  MVKPPYSYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGS
  YWTLDPDSYNMFENGSFLRRRRRFKKKDAVKDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQD
  IKTENGTCPSPPQPLSPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP
  PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSG
  GGGGGAGAAGGAGGAGTYHCNLQAMSLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGGGG
  GGGGGGQEAGHHPAAHQGRLTSWYLNQAGGDLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNG
  NSSCQMAFPSSQSLYRTSGAFVYDCSKF

• Structural information:
  • Interpro: IPR001766  IPR018122  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • STRING: ENSP00000370256
• Other Databases: GeneCards:  FOXC1  Malacards:  FOXC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0005720	nuclear heterochromatin	IDA	cellular component
GO:0008301	DNA binding, bending	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IC	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045930	negative regulation of mitotic cell cycle	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	NAS	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0042475	odontogenesis of dentin-containing tooth	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0008301	DNA binding, bending	IDA	molecular function
GO:0007507	heart development	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0001654	eye development	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990869	cellular response to chemokine	IEA	biological process
GO:1904798	positive regulation of core promoter binding	IEA	biological process
GO:0060038	cardiac muscle cell proliferation	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0032808	lacrimal gland development	IEA	biological process
GO:0030203	glycosaminoglycan metabolic process	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0014031	mesenchymal cell development	IEA	biological process
GO:0008354	germ cell migration	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007507	heart development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003007	heart morphogenesis	IEA	biological process
GO:0001945	lymph vessel development	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001654	eye development	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0001223	transcription coactivator binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:1902257	negative regulation of apoptotic process involved in outflow tract morphogenesis	IEA	biological process
GO:1902038	positive regulation of hematopoietic stem cell differentiation	IEA	biological process
GO:1901534	positive regulation of hematopoietic progenitor cell differentiation	IEA	biological process
GO:1901491	negative regulation of lymphangiogenesis	IEA	biological process
GO:0097746	regulation of blood vessel diameter	IEA	biological process
GO:0072010	glomerular epithelium development	IEA	biological process
GO:0070098	chemokine-mediated signaling pathway	IEA	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IEA	biological process
GO:0048762	mesenchymal cell differentiation	IEA	biological process
GO:0048341	paraxial mesoderm formation	IEA	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	IEA	biological process
GO:0046620	regulation of organ growth	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043010	camera-type eye development	IEA	biological process
GO:0038084	vascular endothelial growth factor signaling pathway	IEA	biological process
GO:0036438	maintenance of lens transparency	IEA	biological process
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008301	DNA binding, bending	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0016477	cell migration	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008283	cell population proliferation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:1902038	positive regulation of hematopoietic stem cell differentiation	ISS	biological process
GO:1901534	positive regulation of hematopoietic progenitor cell differentiation	ISS	biological process
GO:1901491	negative regulation of lymphangiogenesis	ISS	biological process
GO:0038084	vascular endothelial growth factor signaling pathway	ISS	biological process
GO:0036438	maintenance of lens transparency	ISS	biological process
GO:0016525	negative regulation of angiogenesis	ISS	biological process
GO:0016477	cell migration	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0070098	chemokine-mediated signaling pathway	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0045618	positive regulation of keratinocyte differentiation	IMP	biological process
GO:1990841	promoter-specific chromatin binding	ISS	molecular function
GO:0001958	endochondral ossification	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0021549	cerebellum development	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:0001657	ureteric bud development	ISS	biological process
GO:0001657	ureteric bud development	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0072010	glomerular epithelium development	ISS	biological process
GO:0043388	positive regulation of DNA binding	IMP	biological process
GO:0014031	mesenchymal cell development	ISS	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0008283	cell population proliferation	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0071364	cellular response to epidermal growth factor stimulus	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:1990869	cellular response to chemokine	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:1904798	positive regulation of core promoter binding	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function

Diseases

Associated diseases	References
Anterior segment dysgenesis	KEGG:H01159
Axenfeld-Rieger syndrome	KEGG:H00620
Anterior segment dysgenesis	KEGG:H01159
Axenfeld-Rieger syndrome	KEGG:H00620
Axenfeld-Rieger syndrome	PMID:18498376
Glaucoma	PMID:18498376
invasive ductal carcinoma	PMID:21424368
congestive heart failure	PMID:16952980
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R