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Q12948

- FOXC1_HUMAN

UniProt

Q12948 - FOXC1_HUMAN

Protein

Forkhead box protein C1

Gene

FOXC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 3 (27 Apr 2001)
      Previous versions | rss
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    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-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. DNA binding, bending Source: UniProtKB
    3. protein binding Source: UniProtKB
    4. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
    5. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
    6. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
    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 involved in outflow tract morphogenesis Source: Ensembl
    17. negative regulation of mitotic cell cycle Source: UniProtKB
    18. neural crest cell development Source: Ensembl
    19. Notch signaling pathway Source: Ensembl
    20. odontogenesis of dentin-containing tooth Source: UniProtKB
    21. ossification Source: Ensembl
    22. ovarian follicle development Source: Ensembl
    23. paraxial mesoderm formation Source: Ensembl
    24. positive regulation of transcription, DNA-templated Source: UniProtKB
    25. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    26. regulation of blood vessel size Source: Ensembl
    27. regulation of organ growth Source: Ensembl
    28. regulation of transcription, DNA-templated Source: UniProtKB
    29. skeletal system development Source: Ensembl
    30. somitogenesis Source: Ensembl
    31. ureteric bud development Source: Ensembl
    32. vascular endothelial growth factor receptor signaling pathway Source: Ensembl
    33. ventricular cardiac muscle tissue morphogenesis Source: Ensembl

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    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

    Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti70 – 778QPQPKDMV → RSRSPRHG in AAK13575. (PubMed:8499623)Curated
    Sequence conflicti101 – 1011L → Q in AAK13575. (PubMed:8499623)Curated
    Sequence conflicti180 – 1801V → L in AAC72915. (PubMed:9792859)Curated
    Sequence conflicti199 – 2024RQPP → ASPR in AAC72915. (PubMed:9792859)Curated
    Sequence conflicti426 – 4261D → N in AAC18081. (PubMed:9620769)Curated
    Sequence conflicti426 – 4261D → N in AAP15181. (PubMed:12592227)Curated

    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. 2 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 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

    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: October 1, 2014
    This is version 147 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