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O00358

- FOXE1_HUMAN

UniProt

O00358 - FOXE1_HUMAN

Protein

Forkhead box protein E1

Gene

FOXE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 3 (23 Sep 2008)
      Previous versions | rss
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    Functioni

    Probable transcription factor. Could be involved in thyroid gland organogenesis.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi53 – 14795Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. double-stranded DNA binding Source: Ensembl
    3. sequence-specific DNA binding Source: Ensembl
    4. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: Ensembl
    5. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. anatomical structure morphogenesis Source: UniProtKB
    2. cell migration Source: UniProtKB
    3. embryonic organ morphogenesis Source: UniProtKB
    4. hair follicle morphogenesis Source: UniProtKB
    5. hard palate development Source: UniProtKB
    6. negative regulation of transcription, DNA-templated Source: UniProtKB
    7. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    8. pharynx development Source: UniProtKB
    9. positive regulation of transcription, DNA-templated Source: UniProtKB
    10. soft palate development Source: UniProtKB
    11. thymus development Source: UniProtKB
    12. thyroid gland development Source: UniProtKB
    13. thyroid hormone generation Source: UniProtKB

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein E1
    Alternative name(s):
    Forkhead box protein E2
    Forkhead-related protein FKHL15
    HFKH4
    HNF-3/fork head-like protein 5
    Short name:
    HFKL5
    Thyroid transcription factor 2
    Short name:
    TTF-2
    Gene namesi
    Name:FOXE1
    Synonyms:FKHL15, FOXE2, TITF2, TTF2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:3806. FOXE1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Bamforth-Lazarus syndrome (BLS) [MIM:241850]: A disease characterized by thyroid agenesis, cleft palate and choanal atresia.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti57 – 571S → N in BLS; without choanal atresia. 1 Publication
    Corresponds to variant rs28937575 [ dbSNP | Ensembl ].
    VAR_016882
    Natural varianti65 – 651A → V in BLS. 1 Publication
    VAR_008857

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi241850. phenotype.
    Orphaneti95713. Athyreosis.
    1226. Bamforth syndrome.
    146. Papillary or follicular thyroid carcinoma.
    95720. Thyroid hypoplasia.
    PharmGKBiPA28223.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 373373Forkhead box protein E1PRO_0000091826Add
    BLAST

    Post-translational modificationi

    Phosphorylated.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO00358.
    PRIDEiO00358.

    PTM databases

    PhosphoSiteiO00358.

    Expressioni

    Tissue specificityi

    Detected in adult brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, heart, colon, small intestine testis and thymus. Expression was strongest in heart and pancreas.

    Gene expression databases

    BgeeiO00358.
    CleanExiHS_FOXE1.
    HS_TTF2.
    GenevestigatoriO00358.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000364265.

    Structurei

    3D structure databases

    ProteinModelPortaliO00358.
    SMRiO00358. Positions 53-148.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi164 – 309146Ala-richAdd
    BLAST
    Compositional biasi164 – 17714Poly-AlaAdd
    BLAST
    Compositional biasi180 – 24162Pro-richAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiCOG5025.
    HOGENOMiHOG000231286.
    HOVERGENiHBG051642.
    InParanoidiO00358.
    KOiK09398.
    OMAiMTAESGP.
    OrthoDBiEOG7C8GHD.
    PhylomeDBiO00358.
    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.

    O00358-1 [UniParc]FASTAAdd to Basket

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    MTAESGPPPP QPEVLATVKE ERGETAAGAG VPGEATGRGA GGRRRKRPLQ    50
    RGKPPYSYIA LIAMAIAHAP ERRLTLGGIY KFITERFPFY RDNPKKWQNS 100
    IRHNLTLNDC FLKIPREAGR PGKGNYWALD PNAEDMFESG SFLRRRKRFK 150
    RSDLSTYPAY MHDAAAAAAA AAAAAAAAAI FPGAVPAARP PYPGAVYAGY 200
    APPSLAAPPP VYYPAASPGP CRVFGLVPER PLSPELGPAP SGPGGSCAFA 250
    SAGAPATTTG YQPAGCTGAR PANPSAYAAA YAGPDGAYPQ GAGSAIFAAA 300
    GRLAGPASPP AGGSSGGVET TVDFYGRTSP GQFGALGACY NPGGQLGGAS 350
    AGAYHARHAA AYPGGIDRFV SAM 373
    Length:373
    Mass (Da):38,076
    Last modified:September 23, 2008 - v3
    Checksum:iD201EAF05572FCF0
    GO

    Sequence cautioni

    The sequence CAA64246.1 differs from that shown. Reason: Several conflicts.

    Polymorphismi

    An alanine stretch that varies from 12 to 19 residues is present. This polymorphisms can be used as a marker to study the role of FOXE1 in other cases of thyroid dysgenesis, especially in familial cases.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti57 – 571S → N in BLS; without choanal atresia. 1 Publication
    Corresponds to variant rs28937575 [ dbSNP | Ensembl ].
    VAR_016882
    Natural varianti65 – 651A → V in BLS. 1 Publication
    VAR_008857
    Natural varianti102 – 1021R → C in congenital hypothyroidism; with absence of thyroid agenesis; complete loss of DNA binding and transcriptionally inactive. 1 Publication
    VAR_027508
    Natural varianti179 – 1791A → AAA.
    VAR_037643

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X94553 mRNA. Translation: CAA64246.1. Sequence problems.
    U89995 mRNA. Translation: AAC51294.1.
    Y13386 Genomic DNA. Translation: CAA73816.1.
    AL499604 Genomic DNA. Translation: CAI12803.1.
    CH471105 Genomic DNA. Translation: EAW58856.1.
    CCDSiCCDS35078.1.
    RefSeqiNP_004464.2. NM_004473.3.
    UniGeneiHs.159234.

    Genome annotation databases

    EnsembliENST00000375123; ENSP00000364265; ENSG00000178919.
    GeneIDi2304.
    KEGGihsa:2304.
    UCSCiuc004axu.3. human.

    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
    X94553 mRNA. Translation: CAA64246.1 . Sequence problems.
    U89995 mRNA. Translation: AAC51294.1 .
    Y13386 Genomic DNA. Translation: CAA73816.1 .
    AL499604 Genomic DNA. Translation: CAI12803.1 .
    CH471105 Genomic DNA. Translation: EAW58856.1 .
    CCDSi CCDS35078.1.
    RefSeqi NP_004464.2. NM_004473.3.
    UniGenei Hs.159234.

    3D structure databases

    ProteinModelPortali O00358.
    SMRi O00358. Positions 53-148.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000364265.

    PTM databases

    PhosphoSitei O00358.

    Proteomic databases

    PaxDbi O00358.
    PRIDEi O00358.

    Protocols and materials databases

    DNASUi 2304.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375123 ; ENSP00000364265 ; ENSG00000178919 .
    GeneIDi 2304.
    KEGGi hsa:2304.
    UCSCi uc004axu.3. human.

    Organism-specific databases

    CTDi 2304.
    GeneCardsi GC09P100615.
    H-InvDB HIX0034929.
    HGNCi HGNC:3806. FOXE1.
    MIMi 241850. phenotype.
    602617. gene.
    neXtProti NX_O00358.
    Orphaneti 95713. Athyreosis.
    1226. Bamforth syndrome.
    146. Papillary or follicular thyroid carcinoma.
    95720. Thyroid hypoplasia.
    PharmGKBi PA28223.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOGENOMi HOG000231286.
    HOVERGENi HBG051642.
    InParanoidi O00358.
    KOi K09398.
    OMAi MTAESGP.
    OrthoDBi EOG7C8GHD.
    PhylomeDBi O00358.
    TreeFami TF316127.

    Miscellaneous databases

    GeneWikii FOXE1.
    GenomeRNAii 2304.
    NextBioi 9355.
    PROi O00358.
    SOURCEi Search...

    Gene expression databases

    Bgeei O00358.
    CleanExi HS_FOXE1.
    HS_TTF2.
    Genevestigatori O00358.

    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 novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern."
      Wiese S., Emmerich D., Schroeder B., Murphy D.B., Grzeschik K.H., Van Kessel A.G., Thies U.
      DNA Cell Biol. 16:165-171(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fetal brain.
    2. "FKHL15, a new human member of the forkhead gene family located on chromosome 9q22."
      Chadwick B.P., Obermayr F., Frischauf A.-M.
      Genomics 41:390-396(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], POLYMORPHISM OF POLY-ALA REGION.
      Tissue: Keratinocyte.
    3. "Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2)."
      Macchia P.E., Mattei M.-G., Lapi P., Fenzi G., Di Lauro R.
      Biochimie 81:433-440(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], POLYMORPHISM.
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia."
      Clifton-Bligh R.J., Wentworth J.M., Heinz P., Crisp M.S., John R., Lazarus J.H., Ludgate M., Chatterjee V.K.
      Nat. Genet. 19:399-401(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BLS VAL-65.
    7. "A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate."
      Castanet M., Park S.M., Smith A., Bost M., Leger J., Lyonnet S., Pelet A., Czernichow P., Chatterjee K., Polak M.
      Hum. Mol. Genet. 11:2051-2059(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BLS ASN-57.
    8. "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis."
      Baris I., Arisoy A.E., Smith A., Agostini M., Mitchell C.S., Park S.M., Halefoglu A.M., Zengin E., Chatterjee V.K., Battaloglu E.
      J. Clin. Endocrinol. Metab. 91:4183-4187(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CONGENITAL HYPOTHYROIDISM CYS-102, CHARACTERIZATION OF VARIANT CONGENITAL HYPOTHYROIDISM CYS-102.

    Entry informationi

    Entry nameiFOXE1_HUMAN
    AccessioniPrimary (citable) accession number: O00358
    Secondary accession number(s): O75765, Q5T109, Q99526
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: September 23, 2008
    Last modified: October 1, 2014
    This is version 137 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 9
      Human chromosome 9: 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