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Protein

Forkhead box protein D3

Gene

FOXD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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-headPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

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_264617. 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 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:3804. FOXD3.

Subcellular locationi

GO - Cellular componenti

  • nuclear chromatin Source: BHF-UCL
  • nucleoplasm Source: Reactome
  • nucleus Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Autoimmune disease 1 (AIS1)1 Publication

Disease susceptibility is associated with variations affecting the gene represented in this entry.

Disease descriptionAn autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis).

See also OMIM:607836

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiFOXD3.
DMDMi8134475.

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.
GenevisibleiQ9UJU5. HS.

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

GeneTreeiENSGT00760000118904.
HOGENOMiHOG000231285.
HOVERGENiHBG051641.
InParanoidiQ9UJU5.
KOiK09397.
OMAiQYPYALP.
OrthoDBiEOG7C8GHD.
PhylomeDBiQ9UJU5.
TreeFamiTF316127.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS_1.
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

        10         20         30         40         50
MTLSGGGSAS DMSGQTVLTA EDVDIDVVGE GDDGLEEKDS DAGCDSPAGP
60 70 80 90 100
PELRLDEADE VPPAAPHHGQ PQPPHQQPLT LPKEAAGAGA GPGGDVGAPE
110 120 130 140 150
ADGCKGGVGG EEGGASGGGP GAGSGSAGGL APSKPKNSLV KPPYSYIALI
160 170 180 190 200
TMAILQSPQK KLTLSGICEF ISNRFPYYRE KFPAWQNSIR HNLSLNDCFV
210 220 230 240 250
KIPREPGNPG KGNYWTLDPQ SEDMFDNGSF LRRRKRFKRH QQEHLREQTA
260 270 280 290 300
LMMQSFGAYS LAAAAGAAGP YGRPYGLHPA AAAGAYSHPA AAAAAAAAAA
310 320 330 340 350
LQYPYALPPV APVLPPAVPL LPSGELGRKA AAFGSQLGPG LQLQLNSLGA
360 370 380 390 400
AAAAAGTAGA AGTTASLIKS EPSARPSFSI ENIIGGGPAA PGGSAVGAGV
410 420 430 440 450
AGGTGGSGGG STAQSFLRPP GTVQSAALMA THQPLSLSRT TATIAPILSV
460 470
PLSGQFLQPA ASAAAAAAAA AQAKWPAQ
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:
EMBLi
GenBanki
DDBJi
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ9UJU5.

Polymorphism and mutation databases

BioMutaiFOXD3.
DMDMi8134475.

Proteomic databases

PRIDEiQ9UJU5.

Protocols and materials databases

DNASUi27022.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi27022.
GeneCardsiGC01P063788.
HGNCiHGNC:3804. FOXD3.
HPAiCAB022455.
MIMi607836. phenotype.
611539. gene.
neXtProtiNX_Q9UJU5.
Orphaneti247871. Vitiligo-associated autoimmune disease.
PharmGKBiPA28221.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00760000118904.
HOGENOMiHOG000231285.
HOVERGENiHBG051641.
InParanoidiQ9UJU5.
KOiK09397.
OMAiQYPYALP.
OrthoDBiEOG7C8GHD.
PhylomeDBiQ9UJU5.
TreeFamiTF316127.

Enzyme and pathway databases

ReactomeiREACT_264617. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
SignaLinkiQ9UJU5.

Miscellaneous databases

GeneWikiiFOXD3.
GenomeRNAii27022.
NextBioi49550.
PROiQ9UJU5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UJU5.
CleanExiHS_FOXD3.
GenevisibleiQ9UJU5. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS_1.
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]
ProtoNetiSearch...

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: July 22, 2015
This is version 129 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.