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Q9UJU5

- FOXD3_HUMAN

UniProt

Q9UJU5 - FOXD3_HUMAN

Protein

Forkhead box protein D3

Gene

FOXD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor. Also acts as a transcriptional activator. Promotes development of neural crest cells from neural tube progenitors. Restricts neural progenitor cells to the neural crest lineage while suppressing interneuron differentiation. Required for maintenance of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi141 – 23595Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. double-stranded DNA binding Source: Ensembl
    2. protein binding Source: IntAct
    3. RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
    4. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
    5. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. embryonic placenta development Source: Ensembl
    2. in utero embryonic development Source: UniProtKB
    3. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    4. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    5. trophectodermal cell differentiation Source: Ensembl

    Keywords - Molecular functioni

    Activator, Developmental protein, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
    SignaLinkiQ9UJU5.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein D3
    Alternative name(s):
    HNF3/FH transcription factor genesis
    Gene namesi
    Name:FOXD3
    Synonyms:HFH2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:3804. FOXD3.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nuclear chromatin Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Autoimmune disease 1 (AIS1) [MIM:607836]: An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis).1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi607836. phenotype.
    Orphaneti247871. Vitiligo-associated autoimmune disease.
    PharmGKBiPA28221.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 478478Forkhead box protein D3PRO_0000091817Add
    BLAST

    Proteomic databases

    PRIDEiQ9UJU5.

    PTM databases

    PhosphoSiteiQ9UJU5.

    Expressioni

    Tissue specificityi

    Expressed in chronic myeloid leukemia, Jurkat T-cell leukemia and teratocarcinoma cell lines, but not in any other cell lines or normal tissues examined.1 Publication

    Gene expression databases

    BgeeiQ9UJU5.
    CleanExiHS_FOXD3.
    GenevestigatoriQ9UJU5.

    Organism-specific databases

    HPAiCAB022455.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    POU5F1Q018602EBI-475674,EBI-475687

    Protein-protein interaction databases

    BioGridi117959. 1 interaction.
    IntActiQ9UJU5. 1 interaction.
    STRINGi9606.ENSP00000360157.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UJU5.
    SMRiQ9UJU5. Positions 140-236.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi262 – 2687Poly-Ala
    Compositional biasi280 – 2856Poly-Ala
    Compositional biasi290 – 30011Poly-AlaAdd
    BLAST
    Compositional biasi350 – 3556Poly-Ala
    Compositional biasi460 – 47314Poly-AlaAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    HOGENOMiHOG000231285.
    HOVERGENiHBG051641.
    InParanoidiQ9UJU5.
    KOiK09397.
    OMAiALQYPYA.
    OrthoDBiEOG7C8GHD.
    PhylomeDBiQ9UJU5.
    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.

    Q9UJU5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTLSGGGSAS DMSGQTVLTA EDVDIDVVGE GDDGLEEKDS DAGCDSPAGP    50
    PELRLDEADE VPPAAPHHGQ PQPPHQQPLT LPKEAAGAGA GPGGDVGAPE 100
    ADGCKGGVGG EEGGASGGGP GAGSGSAGGL APSKPKNSLV KPPYSYIALI 150
    TMAILQSPQK KLTLSGICEF ISNRFPYYRE KFPAWQNSIR HNLSLNDCFV 200
    KIPREPGNPG KGNYWTLDPQ SEDMFDNGSF LRRRKRFKRH QQEHLREQTA 250
    LMMQSFGAYS LAAAAGAAGP YGRPYGLHPA AAAGAYSHPA AAAAAAAAAA 300
    LQYPYALPPV APVLPPAVPL LPSGELGRKA AAFGSQLGPG LQLQLNSLGA 350
    AAAAAGTAGA AGTTASLIKS EPSARPSFSI ENIIGGGPAA PGGSAVGAGV 400
    AGGTGGSGGG STAQSFLRPP GTVQSAALMA THQPLSLSRT TATIAPILSV 450
    PLSGQFLQPA ASAAAAAAAA AQAKWPAQ 478
    Length:478
    Mass (Da):47,630
    Last modified:May 1, 2000 - v1
    Checksum:i06163F6318FB13CB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti200 – 2001V → D in AAK13574. (PubMed:8499623)Curated
    Sequence conflicti207 – 2104GNPG → ATRP in AAK13574. (PubMed:8499623)Curated
    Sequence conflicti239 – 2391R → A in AAK13574. (PubMed:8499623)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF197560 Genomic DNA. Translation: AAF05844.1.
    AL049636 Genomic DNA. Translation: CAC19431.1.
    L12142 mRNA. Translation: AAK13574.1.
    CCDSiCCDS624.1.
    RefSeqiNP_036315.1. NM_012183.2.
    UniGeneiHs.546573.

    Genome annotation databases

    EnsembliENST00000371116; ENSP00000360157; ENSG00000187140.
    GeneIDi27022.
    KEGGihsa:27022.
    UCSCiuc001dax.2. human.

    Polymorphism databases

    DMDMi8134475.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF197560 Genomic DNA. Translation: AAF05844.1 .
    AL049636 Genomic DNA. Translation: CAC19431.1 .
    L12142 mRNA. Translation: AAK13574.1 .
    CCDSi CCDS624.1.
    RefSeqi NP_036315.1. NM_012183.2.
    UniGenei Hs.546573.

    3D structure databases

    ProteinModelPortali Q9UJU5.
    SMRi Q9UJU5. Positions 140-236.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117959. 1 interaction.
    IntActi Q9UJU5. 1 interaction.
    STRINGi 9606.ENSP00000360157.

    PTM databases

    PhosphoSitei Q9UJU5.

    Polymorphism databases

    DMDMi 8134475.

    Proteomic databases

    PRIDEi Q9UJU5.

    Protocols and materials databases

    DNASUi 27022.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371116 ; ENSP00000360157 ; ENSG00000187140 .
    GeneIDi 27022.
    KEGGi hsa:27022.
    UCSCi uc001dax.2. human.

    Organism-specific databases

    CTDi 27022.
    GeneCardsi GC01P063788.
    HGNCi HGNC:3804. FOXD3.
    HPAi CAB022455.
    MIMi 607836. phenotype.
    611539. gene.
    neXtProti NX_Q9UJU5.
    Orphaneti 247871. Vitiligo-associated autoimmune disease.
    PharmGKBi PA28221.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000231285.
    HOVERGENi HBG051641.
    InParanoidi Q9UJU5.
    KOi K09397.
    OMAi ALQYPYA.
    OrthoDBi EOG7C8GHD.
    PhylomeDBi Q9UJU5.
    TreeFami TF316127.

    Enzyme and pathway databases

    Reactomei REACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
    SignaLinki Q9UJU5.

    Miscellaneous databases

    GeneWikii FOXD3.
    GenomeRNAii 27022.
    NextBioi 49550.
    PROi Q9UJU5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UJU5.
    CleanExi HS_FOXD3.
    Genevestigatori Q9UJU5.

    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 winged helix transcriptional regulator Genesis/HFH2/FoxD3 is located at human chromosome 1p31-32 in PAC dj792g4 as a single exon."
      Ramsey H.C., Hromas R.
      Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "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].
    3. "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 133-244, TISSUE SPECIFICITY.
      Tissue: Chronic myeloid leukemia cell.
    4. "The embryonic stem cell transcription factors Oct-4 and FoxD3 interact to regulate endodermal-specific promoter expression."
      Guo Y., Costa R., Ramsey H., Starnes T., Vance G., Robertson K., Kelley M., Reinbold R., Scholer H., Hromas R.
      Proc. Natl. Acad. Sci. U.S.A. 99:3663-3667(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH POU5F1.
    5. "Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo."
      Alkhateeb A., Fain P.R., Spritz R.A.
      J. Invest. Dermatol. 125:388-391(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN AIS1.

    Entry informationi

    Entry nameiFOXD3_HUMAN
    AccessioniPrimary (citable) accession number: Q9UJU5
    Secondary accession number(s): Q9BYM2, Q9UDD1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 122 of the entry and version 1 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3