SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q12948

- FOXC1_HUMAN

UniProt

Q12948 - FOXC1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Forkhead box protein C1

Gene
FOXC1, FKHL7, FREAC3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Binding of FREAC-3 and FREAC-4 to their cognate sites results in bending of the DNA at an angle of 80-90 degrees. 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.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi77 – 16892Fork-head1 PublicationAdd
BLAST

GO - Molecular functioni

  1. chromatin DNA binding Source: RefGenome
  2. DNA binding Source: UniProtKB
  3. DNA binding, bending Source: UniProtKB
  4. double-stranded DNA binding Source: RefGenome
  5. protein binding Source: UniProtKB
  6. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: RefGenome
  7. sequence-specific DNA binding Source: UniProtKB
  8. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  9. transcription factor binding Source: UniProtKB
  10. transcription regulatory region DNA binding Source: BHF-UCL

GO - Biological processi

  1. artery morphogenesis Source: Ensembl
  2. blood vessel remodeling Source: Ensembl
  3. brain development Source: Ensembl
  4. camera-type eye development Source: Ensembl
  5. cardiac muscle cell proliferation Source: Ensembl
  6. collagen fibril organization Source: Ensembl
  7. embryonic heart tube development Source: Ensembl
  8. eye development Source: MGI
  9. germ cell migration Source: Ensembl
  10. glycosaminoglycan metabolic process Source: Ensembl
  11. heart development Source: MGI
  12. in utero embryonic development Source: Ensembl
  13. kidney development Source: Ensembl
  14. lacrimal gland development Source: Ensembl
  15. lymph vessel development Source: Ensembl
  16. negative regulation of apoptotic process Source: RefGenome
  17. negative regulation of apoptotic process involved in outflow tract morphogenesis Source: Ensembl
  18. negative regulation of mitotic cell cycle Source: UniProtKB
  19. negative regulation of transcription from RNA polymerase II promoter Source: RefGenome
  20. neural crest cell development Source: Ensembl
  21. Notch signaling pathway Source: RefGenome
  22. odontogenesis of dentin-containing tooth Source: UniProtKB
  23. ossification Source: Ensembl
  24. ovarian follicle development Source: Ensembl
  25. paraxial mesoderm formation Source: Ensembl
  26. pattern specification process Source: RefGenome
  27. positive regulation of transcription, DNA-templated Source: UniProtKB
  28. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  29. regulation of blood vessel size Source: Ensembl
  30. regulation of organ growth Source: RefGenome
  31. regulation of sequence-specific DNA binding transcription factor activity Source: RefGenome
  32. regulation of transcription, DNA-templated Source: UniProtKB
  33. skeletal system development Source: Ensembl
  34. somitogenesis Source: Ensembl
  35. tissue development Source: RefGenome
  36. transcription from RNA polymerase II promoter Source: GOC
  37. ureteric bud development Source: Ensembl
  38. vascular endothelial growth factor receptor signaling pathway Source: RefGenome
  39. ventricular cardiac muscle tissue morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ12948.

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein C1
Alternative name(s):
Forkhead-related protein FKHL7
Forkhead-related transcription factor 3
Short name:
FREAC-3
Gene namesi
Name:FOXC1
Synonyms:FKHL7, FREAC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:3800. FOXC1.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nuclear heterochromatin Source: UniProtKB
  3. nucleus Source: UniProtKB
  4. transcription factor complex Source: RefGenome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti130 – 1301L → F in RIEG3; expressed at levels similar to those of wild-type protein; migrates at an apparent reduced molecular weight compared with wild-type; has significantly impaired capacity to localize to the nucleus, binds DNA and transactivates reporter genes. 1 Publication
VAR_058730
Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]: Autosomal dominant phenotype characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti112 – 1121F → S in IGDA and PETAN. 2 Publications
VAR_007815
Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti112 – 1121F → S in IGDA and PETAN. 2 Publications
VAR_007815

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi86 – 861L → P: Severely disrupts the protein function. 1 Publication

Keywords - Diseasei

Deafness, Disease mutation, Peters anomaly

Organism-specific databases

MIMi601631. phenotype.
602482. phenotype.
604229. phenotype.
Orphaneti98978. Axenfeld anomaly.
782. Axenfeld-Rieger syndrome.
708. Peters anomaly.
91483. Rieger anomaly.
PharmGKBiPA28217.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 553553Forkhead box protein C1PRO_0000091806Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei235 – 2351Phosphoserine2 Publications
Modified residuei241 – 2411Phosphoserine1 Publication
Modified residuei320 – 3201Phosphoserine2 Publications
Modified residuei521 – 5211Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ12948.
PaxDbiQ12948.
PRIDEiQ12948.

PTM databases

PhosphoSiteiQ12948.

Expressioni

Tissue specificityi

Expressed in all tissues and cell lines examined.1 Publication

Gene expression databases

ArrayExpressiQ12948.
BgeeiQ12948.
CleanExiHS_FOXC1.
GenevestigatoriQ12948.

Organism-specific databases

HPAiHPA040670.

Interactioni

Subunit structurei

Monomer. Interacts with C1QBP.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
C1QBPQ070216EBI-1175253,EBI-347528
FLNAP213338EBI-1175253,EBI-350432
ORFQ9Q2G43EBI-1175253,EBI-6248094From a different organism.
PBX1P404244EBI-1175253,EBI-301611
PITX2Q99697-36EBI-1175253,EBI-1175243

Protein-protein interaction databases

BioGridi108585. 5 interactions.
IntActiQ12948. 5 interactions.
STRINGi9606.ENSP00000370256.

Structurei

3D structure databases

ProteinModelPortaliQ12948.
SMRiQ12948. Positions 76-168.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi28 – 336Poly-Ala
Compositional biasi169 – 1735Poly-Arg
Compositional biasi194 – 1974Poly-Pro
Compositional biasi262 – 27211Poly-SerAdd
BLAST
Compositional biasi292 – 2976Poly-Pro
Compositional biasi375 – 3828Poly-Gly
Compositional biasi438 – 4458Poly-Ser
Compositional biasi447 – 45610Poly-Gly
Compositional biasi486 – 49510Poly-Ala

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5025.
HOVERGENiHBG051640.
InParanoidiQ12948.
KOiK09396.
OMAiYSSPCSQ.
OrthoDBiEOG7C8GHD.
PhylomeDBiQ12948.
TreeFamiTF316127.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
PROSITEiPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q12948-1 [UniParc]FASTAAdd to Basket

« Hide

MQARYSVSSP NSLGVVPYLG GEQSYYRAAA AAAGGGYTAM PAPMSVYSHP    50
AHAEQYPGGM ARAYGPYTPQ PQPKDMVKPP YSYIALITMA IQNAPDKKIT 100
LNGIYQFIMD RFPFYRDNKQ GWQNSIRHNL SLNECFVKVP RDDKKPGKGS 150
YWTLDPDSYN MFENGSFLRR RRRFKKKDAV KDKEEKDRLH LKEPPPPGRQ 200
PPPAPPEQAD GNAPGPQPPP VRIQDIKTEN GTCPSPPQPL SPAAALGSGS 250
AAAVPKIESP DSSSSSLSSG SSPPGSLPSA RPLSLDGADS APPPPAPSAP 300
PPHHSQGFSV DNIMTSLRGS PQSAAAELSS GLLASAAASS RAGIAPPLAL 350
GAYSPGQSSL YSSPCSQTSS AGSSGGGGGG AGAAGGAGGA GTYHCNLQAM 400
SLYAAGERGG HLQGAPGGAG GSAVDDPLPD YSLPPVTSSS SSSLSHGGGG 450
GGGGGGQEAG HHPAAHQGRL TSWYLNQAGG DLGHLASAAA AAAAAGYPGQ 500
QQNFHSVREM FESQRIGLNN SPVNGNSSCQ MAFPSSQSLY RTSGAFVYDC 550
SKF 553
Length:553
Mass (Da):56,789
Last modified:April 27, 2001 - v3
Checksum:i59C6FB94303ED59A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791P → L in Rieger syndrome. 1 Publication
VAR_058722
Natural varianti79 – 791P → R in ARS. 1 Publication
VAR_058723
Natural varianti79 – 791P → T in ARS. 1 Publication
VAR_058724
Natural varianti82 – 821S → T in ARS. 1 Publication
VAR_007944
Natural varianti86 – 861L → F in ARS; does not affect nuclear localization of the protein; reduces DNA binding and significantly reduces transactivation. 1 Publication
VAR_058725
Natural varianti87 – 871I → M in ARS. 1 Publication
VAR_007945
Natural varianti91 – 911I → S in ARS. 1 Publication
VAR_058726
Natural varianti91 – 911I → T in ARS. 1 Publication
VAR_058727
Natural varianti112 – 1121F → S in IGDA and PETAN. 2 Publications
VAR_007815
Natural varianti115 – 1151Y → S in ARS. 1 Publication
VAR_058728
Natural varianti126 – 1261I → M in ARS; with glaucoma. 1 Publication
VAR_007816
Natural varianti127 – 1271R → H in ARS. 1 Publication
VAR_058729
Natural varianti130 – 1301L → F in RIEG3; expressed at levels similar to those of wild-type protein; migrates at an apparent reduced molecular weight compared with wild-type; has significantly impaired capacity to localize to the nucleus, binds DNA and transactivates reporter genes. 1 Publication
VAR_058730
Natural varianti131 – 1311S → L in ARS; with glaucoma. 2 Publications
VAR_007817
Natural varianti149 – 1491G → D in ARS. 1 Publication
VAR_058731
Natural varianti161 – 1611M → K in ARS; localized correctly to the nucleus; displays reduced DNA binding ability; disrupts FOXC1's transactivation ability. 3 Publications
VAR_018150
Natural varianti161 – 1611M → V in ARS. 1 Publication
VAR_058732
Natural varianti165 – 1651G → R in ARS; localized correctly to the nucleus; maintains wild-type levels of DNA binding; disrupts FOXC1's transactivation ability. 1 Publication
VAR_058733
Natural varianti169 – 1691R → P in ARS; localized correctly to the nucleus; displays reduced DNA binding ability; disrupts FOXC1's transactivation ability. 1 Publication
VAR_058734

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 778QPQPKDMV → RSRSPRHG in AAK13575. 1 Publication
Sequence conflicti101 – 1011L → Q in AAK13575. 1 Publication
Sequence conflicti180 – 1801V → L in AAC72915. 1 Publication
Sequence conflicti199 – 2024RQPP → ASPR in AAC72915. 1 Publication
Sequence conflicti426 – 4261D → N in AAC18081. 1 Publication
Sequence conflicti426 – 4261D → N in AAP15181. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF048693 Genomic DNA. Translation: AAC18081.1.
AF078096 Genomic DNA. Translation: AAC72915.1.
AY228704 Genomic DNA. Translation: AAP15181.1.
AL034344 Genomic DNA. Translation: CAB81658.1.
L12143 mRNA. Translation: AAK13575.1.
U13221 mRNA. Translation: AAA92038.1.
CCDSiCCDS4473.1.
PIRiS51626.
RefSeqiNP_001444.2. NM_001453.2.
UniGeneiHs.348883.

Genome annotation databases

EnsembliENST00000380874; ENSP00000370256; ENSG00000054598.
GeneIDi2296.
KEGGihsa:2296.
UCSCiuc003mtp.3. human.

Polymorphism databases

DMDMi13638267.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF048693 Genomic DNA. Translation: AAC18081.1 .
AF078096 Genomic DNA. Translation: AAC72915.1 .
AY228704 Genomic DNA. Translation: AAP15181.1 .
AL034344 Genomic DNA. Translation: CAB81658.1 .
L12143 mRNA. Translation: AAK13575.1 .
U13221 mRNA. Translation: AAA92038.1 .
CCDSi CCDS4473.1.
PIRi S51626.
RefSeqi NP_001444.2. NM_001453.2.
UniGenei Hs.348883.

3D structure databases

ProteinModelPortali Q12948.
SMRi Q12948. Positions 76-168.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108585. 5 interactions.
IntActi Q12948. 5 interactions.
STRINGi 9606.ENSP00000370256.

PTM databases

PhosphoSitei Q12948.

Polymorphism databases

DMDMi 13638267.

Proteomic databases

MaxQBi Q12948.
PaxDbi Q12948.
PRIDEi Q12948.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000380874 ; ENSP00000370256 ; ENSG00000054598 .
GeneIDi 2296.
KEGGi hsa:2296.
UCSCi uc003mtp.3. human.

Organism-specific databases

CTDi 2296.
GeneCardsi GC06P001610.
H-InvDB HIX0032962.
HGNCi HGNC:3800. FOXC1.
HPAi HPA040670.
MIMi 601090. gene.
601631. phenotype.
602482. phenotype.
604229. phenotype.
neXtProti NX_Q12948.
Orphaneti 98978. Axenfeld anomaly.
782. Axenfeld-Rieger syndrome.
708. Peters anomaly.
91483. Rieger anomaly.
PharmGKBi PA28217.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
HOVERGENi HBG051640.
InParanoidi Q12948.
KOi K09396.
OMAi YSSPCSQ.
OrthoDBi EOG7C8GHD.
PhylomeDBi Q12948.
TreeFami TF316127.

Enzyme and pathway databases

SignaLinki Q12948.

Miscellaneous databases

GeneWikii Forkhead_box_C1.
GenomeRNAii 2296.
NextBioi 9319.
PROi Q12948.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q12948.
Bgeei Q12948.
CleanExi HS_FOXC1.
Genevestigatori Q12948.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
InterProi IPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00250. Fork_head. 1 hit.
[Graphical view ]
PRINTSi PR00053. FORKHEAD.
SMARTi SM00339. FH. 1 hit.
[Graphical view ]
PROSITEi PS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25."
    Nishimura D.Y., Swiderski R.E., Alward W.L.M., Searby C.C., Patil S.R., Bennet S.R., Kanis A.B., Gastier J.M., Stone E.M., Sheffield V.C.
    Nat. Genet. 19:140-147(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-112; MET-126 AND LEU-131.
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARS THR-82 AND MET-87.
  3. "Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India."
    Komatireddy S., Chakrabarti S., Mandal A.K., Reddy A.B.M., Sampath S., Panicker S.G., Balasubramanian D.
    Mol. Vis. 9:43-48(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ARS LYS-161.
  4. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells."
    Hromas R., Moore J., Johnston T., Socha C., Klemsz M.
    Blood 81:2854-2859(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 68-177, TISSUE SPECIFICITY.
    Tissue: Erythroleukemia.
  6. "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending."
    Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.
    EMBO J. 13:5002-5012(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 73-178.
  7. "FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A."
    Berry F.B., Skarie J.M., Mirzayans F., Fortin Y., Hudson T.J., Raymond V., Link B.A., Walter M.A.
    Hum. Mol. Genet. 17:490-505(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, DNA-BINDING.
  8. "Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells."
    Huang L., Chi J., Berry F.B., Footz T.K., Sharp M.W., Walter M.A.
    Invest. Ophthalmol. Vis. Sci. 49:5243-5249(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH C1QBP.
  9. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-235; SER-241 AND SER-320, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-235, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  13. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-320 AND SER-521, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  14. "A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye."
    Nishimura D.Y., Searby C.C., Alward W.L., Walton D., Craig J.E., Mackey D.A., Kawase K., Kanis A.B., Patil S.R., Stone E.M., Sheffield V.C.
    Am. J. Hum. Genet. 68:364-372(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RIEGER SYNDROME LEU-79 AND LEU-131.
  15. "A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome."
    Suzuki T., Takahashi K., Kuwahara S., Wada Y., Abe T., Tamai M.
    Am. J. Ophthalmol. 132:572-575(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARS THR-79.
  16. "Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients."
    Kawase C., Kawase K., Taniguchi T., Sugiyama K., Yamamoto T., Kitazawa Y., Alward W.L., Stone E.M., Nishimura D.Y., Sheffield V.C.
    J. Glaucoma 10:477-482(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARS SER-91 AND HIS-127.
  17. "Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly."
    Panicker S.G., Sampath S., Mandal A.K., Reddy A.B.M., Ahmed N., Hasnain S.E.
    Invest. Ophthalmol. Vis. Sci. 43:3613-3616(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARS LYS-161.
  18. "A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene."
    Honkanen R.A., Nishimura D.Y., Swiderski R.E., Bennett S.R., Hong S., Kwon Y.H., Stone E.M., Sheffield V.C., Alward W.L.M.
    Am. J. Ophthalmol. 135:368-375(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PETAN SER-112.
  19. "Identification and analysis of a novel mutation in the FOXC1 forkhead domain."
    Saleem R.A., Murphy T.C., Liebmann J.M., Walter M.A.
    Invest. Ophthalmol. Vis. Sci. 44:4608-4612(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARS PHE-86, MUTAGENESIS OF LEU-86, CHARACTERIZATION OF VARIANT ARS PHE-86.
  20. "Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family."
    Mortemousque B., Amati-Bonneau P., Couture F., Graffan R., Dubois S., Colin J., Bonneau D., Morissette J., Lacombe D., Raymond V.
    Arch. Ophthalmol. 122:1527-1533(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARS THR-91.
  21. "The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions."
    Murphy T.C., Saleem R.A., Footz T., Ritch R., McGillivray B., Walter M.A.
    Invest. Ophthalmol. Vis. Sci. 45:2531-2538(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARS ARG-165 AND PRO-169, CHARACTERIZATION OF VARIANTS ARS LYS-161; ARG-165 AND PRO-169.
  22. "Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations."
    Weisschuh N., Dressler P., Schuettauf F., Wolf C., Wissinger B., Gramer E.
    Invest. Ophthalmol. Vis. Sci. 47:3846-3852(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARS ARG-79; SER-115; ASP-149 AND VAL-161.
  23. Erratum
    Weisschuh N., Dressler P., Schuettauf F., Wolf C., Wissinger B., Gramer E.
    Invest. Ophthalmol. Vis. Sci. 47:5162-5162(2006)
  24. Cited for: VARIANT RIEG3 PHE-130, CHARACTERIZATION OF VARIANT RIEG3 PHE-130.

Entry informationi

Entry nameiFOXC1_HUMAN
AccessioniPrimary (citable) accession number: Q12948
Secondary accession number(s): Q86UP7
, Q9BYM1, Q9NUE5, Q9UDD0, Q9UP06
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 27, 2001
Last modified: July 9, 2014
This is version 146 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi