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Q13461

- FOXE3_HUMAN

UniProt

Q13461 - FOXE3_HUMAN

Protein

Forkhead box protein E3

Gene

FOXE3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 2 (11 Jan 2001)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi70 – 16192Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. camera-type eye development Source: Ensembl
    2. cell development Source: Ensembl
    3. positive regulation of epithelial cell proliferation Source: Ensembl
    4. transcription from RNA polymerase II promoter Source: MGI

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein E3
    Alternative name(s):
    Forkhead-related protein FKHL12
    Forkhead-related transcription factor 8
    Short name:
    FREAC-8
    Gene namesi
    Name:FOXE3
    Synonyms:FKHL12, FREAC8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:3808. FOXE3.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. transcription factor complex Source: MGI

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]: A range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Different mature anterior segment anomalies may exist alone or in combination, and are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum of anterior segment anomalies include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901R → L in ASMD; a patient with Peters anomaly. 1 Publication
    VAR_062584
    Congenital primary aphakia (CPA) [MIM:610256]: Aphakia is a rare congenital eye disorder in which the lens is missing. It has been histologically subdivided into primary and secondary forms, in accordance with the severity of defects of the ocular tissues, whose development requires the initial presence of a lens. CPA results from an early developmental arrest, around the 4th-5th week of gestation in humans, that prevents the formation of any lens structure and leads to severe secondary ocular defects, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less-severe ocular defects.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Peters anomaly

    Organism-specific databases

    MIMi107250. phenotype.
    610256. phenotype.
    Orphaneti83461. Congenital primary aphakia.
    88632. Familial ocular anterior segment mesenchymal dysgenesis.
    PharmGKBiPA28225.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 319319Forkhead box protein E3PRO_0000091829Add
    BLAST

    Proteomic databases

    PRIDEiQ13461.

    PTM databases

    PhosphoSiteiQ13461.

    Expressioni

    Developmental stagei

    Expressed in the lens during embryonic development. Predominantly expressed in the anterior lens epithelium but with some expression posteriorly. Not expressed in brain in embryos.1 Publication

    Gene expression databases

    BgeeiQ13461.
    CleanExiHS_FOXE3.
    GenevestigatoriQ13461.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000334472.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13461.
    SMRiQ13461. Positions 71-166.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi61 – 655Poly-Arg
    Compositional biasi174 – 1796Poly-Ala
    Compositional biasi245 – 2495Poly-Ala
    Compositional biasi254 – 2574Poly-Ala

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiCOG5025.
    HOGENOMiHOG000231286.
    HOVERGENiHBG051642.
    InParanoidiQ13461.
    KOiK09398.
    OMAiYRDNPRK.
    OrthoDBiEOG7KWSK8.
    PhylomeDBiQ13461.
    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.

    Q13461-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAGRSDMDPP AAFSGFPALP AVAPSGPPPS PLAGAEPGRE PEEAAAGRGE    50
    AAPTPAPGPG RRRRRPLQRG KPPYSYIALI AMALAHAPGR RLTLAAIYRF 100
    ITERFAFYRD SPRKWQNSIR HNLTLNDCFV KVPREPGNPG KGNYWTLDPA 150
    AADMFDNGSF LRRRKRFKRA ELPAHAAAAP GPPLPFPYAP YAPAPGPALL 200
    VPPPSAGPGP SPPARLFSVD SLVNLQPELA GLGAPEPPCC AAPDAAAAAF 250
    PPCAAAASPP LYSQVPDRLV LPATRPGPGP LPAEPLLALA GPAAALGPLS 300
    PGEAYLRQPG FASGLERYL 319
    Length:319
    Mass (Da):33,234
    Last modified:January 11, 2001 - v2
    Checksum:iE25A64457B7ECDF8
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti162 – 1621R → P in AAB48856. (PubMed:8825632)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491G → A in a family with eye development anomalies. 1 Publication
    VAR_062582
    Natural varianti82 – 821M → V in a family with eye development anomalies. 1 Publication
    VAR_062583
    Natural varianti90 – 901R → L in ASMD; a patient with Peters anomaly. 1 Publication
    VAR_062584
    Natural varianti196 – 1961G → A.1 Publication
    VAR_026234
    Natural varianti300 – 3001S → G.1 Publication
    VAR_026235

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF275722 mRNA. Translation: AAF82793.1.
    AL607122 Genomic DNA. Translation: CAI14973.1.
    U42990 Genomic DNA. Translation: AAB48856.1.
    CCDSiCCDS550.1.
    PIRiG02311.
    RefSeqiNP_036318.1. NM_012186.2.
    UniGeneiHs.112968.

    Genome annotation databases

    EnsembliENST00000335071; ENSP00000334472; ENSG00000186790.
    GeneIDi2301.
    KEGGihsa:2301.
    UCSCiuc001crk.3. human.

    Polymorphism databases

    DMDMi12644406.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF275722 mRNA. Translation: AAF82793.1 .
    AL607122 Genomic DNA. Translation: CAI14973.1 .
    U42990 Genomic DNA. Translation: AAB48856.1 .
    CCDSi CCDS550.1.
    PIRi G02311.
    RefSeqi NP_036318.1. NM_012186.2.
    UniGenei Hs.112968.

    3D structure databases

    ProteinModelPortali Q13461.
    SMRi Q13461. Positions 71-166.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000334472.

    PTM databases

    PhosphoSitei Q13461.

    Polymorphism databases

    DMDMi 12644406.

    Proteomic databases

    PRIDEi Q13461.

    Protocols and materials databases

    DNASUi 2301.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000335071 ; ENSP00000334472 ; ENSG00000186790 .
    GeneIDi 2301.
    KEGGi hsa:2301.
    UCSCi uc001crk.3. human.

    Organism-specific databases

    CTDi 2301.
    GeneCardsi GC01P047881.
    HGNCi HGNC:3808. FOXE3.
    MIMi 107250. phenotype.
    601094. gene.
    610256. phenotype.
    neXtProti NX_Q13461.
    Orphaneti 83461. Congenital primary aphakia.
    88632. Familial ocular anterior segment mesenchymal dysgenesis.
    PharmGKBi PA28225.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOGENOMi HOG000231286.
    HOVERGENi HBG051642.
    InParanoidi Q13461.
    KOi K09398.
    OMAi YRDNPRK.
    OrthoDBi EOG7KWSK8.
    PhylomeDBi Q13461.
    TreeFami TF316127.

    Miscellaneous databases

    GeneWikii FOXE3.
    GenomeRNAii 2301.
    NextBioi 9341.
    PROi Q13461.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q13461.
    CleanExi HS_FOXE3.
    Genevestigatori Q13461.

    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. "Forkhead transcription factor FOXE3 is expressed in lens epithelium."
      Carlsson P.
      Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts."
      Semina E.V., Brownell I., Mintz-Hittner H.A., Murray J.C., Jamrich M.
      Hum. Mol. Genet. 10:231-236(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-196 AND GLY-300, INVOLVEMENT IN ASMD.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)."
      Larsson C., Hellqvist M., Pierrou S., White I., Enerbaeck S., Carlsson P.
      Genomics 30:464-469(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 66-171.
    5. "Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans."
      Valleix S., Niel F., Nedelec B., Algros M.-P., Schwartz C., Delbosc B., Delpech M., Kantelip B.
      Am. J. Hum. Genet. 79:358-364(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CPA.
    6. "Foxe3 haploinsufficiency in mice: a model for Peters' anomaly."
      Ormestad M., Blixt A., Churchill A., Martinsson T., Enerback S., Carlsson P.
      Invest. Ophthalmol. Vis. Sci. 43:1350-1357(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASMD LEU-90.
    7. Cited for: VARIANTS ALA-49 AND VAL-82, DEVELOPMENTAL STAGE.

    Entry informationi

    Entry nameiFOXE3_HUMAN
    AccessioniPrimary (citable) accession number: Q13461
    Secondary accession number(s): Q5SVY9, Q9NQV9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: January 11, 2001
    Last modified: October 1, 2014
    This is version 124 of the entry and version 2 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 1
      Human chromosome 1: 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