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Q9UJU5

- FOXD3_HUMAN

UniProt

Q9UJU5 - FOXD3_HUMAN

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Protein
Forkhead box protein D3
Gene
FOXD3, HFH2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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-head
Add
BLAST

GO - Molecular functioni

  1. DNA binding, bending Source: RefGenome
  2. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: RefGenome
  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. double-stranded DNA binding Source: RefGenome
  6. protein binding Source: IntAct
  7. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  8. transcription factor binding Source: RefGenome

GO - Biological processi

  1. axon extension involved in axon guidance Source: RefGenome
  2. branching involved in ureteric bud morphogenesis Source: RefGenome
  3. cartilage development Source: RefGenome
  4. embryonic placenta development Source: RefGenome
  5. enteric nervous system development Source: RefGenome
  6. in utero embryonic development Source: UniProtKB
  7. iridophore differentiation Source: RefGenome
  8. kidney development Source: RefGenome
  9. lateral line nerve glial cell development Source: RefGenome
  10. melanocyte differentiation Source: RefGenome
  11. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  12. neural crest cell migration Source: RefGenome
  13. pattern specification process Source: RefGenome
  14. peripheral nervous system development Source: RefGenome
  15. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  16. regulation of sequence-specific DNA binding transcription factor activity Source: RefGenome
  17. sympathetic nervous system development Source: RefGenome
  18. transcription from RNA polymerase II promoter Source: GOC
  19. trophectodermal cell differentiation Source: RefGenome
Complete GO annotation...

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 Inferred

GO - Cellular componenti

  1. nuclear chromatin Source: BHF-UCL
  2. transcription factor complex Source: RefGenome
Complete GO annotation...

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).
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication

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 D3
PRO_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.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti200 – 2001V → D in AAK13574. 1 Publication
Sequence conflicti207 – 2104GNPG → ATRP in AAK13574. 1 Publication
Sequence conflicti239 – 2391R → A in AAK13574. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 121 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

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