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Q9UJU5 (FOXD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Forkhead box protein D3
Alternative name(s):
HNF3/FH transcription factor genesis
Gene names
Name:FOXD3
Synonyms:HFH2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length478 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.4

Subcellular location

Nucleus Probable.

Tissue specificity

Expressed in chronic myeloid leukemia, Jurkat T-cell leukemia and teratocarcinoma cell lines, but not in any other cell lines or normal tissues examined. Ref.3

Involvement in disease

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. Ref.5

Sequence similarities

Contains 1 fork-head DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
Repressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon extension involved in axon guidance

Inferred from Biological aspect of Ancestor. Source: RefGenome

branching involved in ureteric bud morphogenesis

Inferred from Biological aspect of Ancestor. Source: RefGenome

cartilage development

Inferred from Biological aspect of Ancestor. Source: RefGenome

embryonic placenta development

Inferred from Biological aspect of Ancestor. Source: RefGenome

enteric nervous system development

Inferred from Biological aspect of Ancestor. Source: RefGenome

in utero embryonic development

Inferred from sequence or structural similarity. Source: UniProtKB

iridophore differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

kidney development

Inferred from Biological aspect of Ancestor. Source: RefGenome

lateral line nerve glial cell development

Inferred from Biological aspect of Ancestor. Source: RefGenome

melanocyte differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

negative regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: UniProtKB

neural crest cell migration

Inferred from Biological aspect of Ancestor. Source: RefGenome

pattern specification process

Inferred from Biological aspect of Ancestor. Source: RefGenome

peripheral nervous system development

Inferred from Biological aspect of Ancestor. Source: RefGenome

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.4. Source: UniProtKB

regulation of sequence-specific DNA binding transcription factor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

sympathetic nervous system development

Inferred from Biological aspect of Ancestor. Source: RefGenome

transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: GOC

trophectodermal cell differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

   Cellular_componentnuclear chromatin

Inferred from direct assay PubMed 22306510. Source: BHF-UCL

transcription factor complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

   Molecular_functionDNA binding, bending

Inferred from Biological aspect of Ancestor. Source: RefGenome

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

RNA polymerase II regulatory region sequence-specific DNA binding

Inferred from direct assay PubMed 22306510. Source: BHF-UCL

RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription

Inferred from direct assay PubMed 22306510. Source: BHF-UCL

double-stranded DNA binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

protein binding

Inferred from physical interaction Ref.4. Source: IntAct

sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

transcription factor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

POU5F1Q018602EBI-475674,EBI-475687

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 478478Forkhead box protein D3
PRO_0000091817

Regions

DNA binding141 – 23595Fork-head
Compositional bias262 – 2687Poly-Ala
Compositional bias280 – 2856Poly-Ala
Compositional bias290 – 30011Poly-Ala
Compositional bias350 – 3556Poly-Ala
Compositional bias460 – 47314Poly-Ala

Experimental info

Sequence conflict2001V → D in AAK13574. Ref.3
Sequence conflict207 – 2104GNPG → ATRP in AAK13574. Ref.3
Sequence conflict2391R → A in AAK13574. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q9UJU5 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 06163F6318FB13CB

FASTA47847,630
        10         20         30         40         50         60 
MTLSGGGSAS DMSGQTVLTA EDVDIDVVGE GDDGLEEKDS DAGCDSPAGP PELRLDEADE 

        70         80         90        100        110        120 
VPPAAPHHGQ PQPPHQQPLT LPKEAAGAGA GPGGDVGAPE ADGCKGGVGG EEGGASGGGP 

       130        140        150        160        170        180 
GAGSGSAGGL APSKPKNSLV KPPYSYIALI TMAILQSPQK KLTLSGICEF ISNRFPYYRE 

       190        200        210        220        230        240 
KFPAWQNSIR HNLSLNDCFV KIPREPGNPG KGNYWTLDPQ SEDMFDNGSF LRRRKRFKRH 

       250        260        270        280        290        300 
QQEHLREQTA LMMQSFGAYS LAAAAGAAGP YGRPYGLHPA AAAGAYSHPA AAAAAAAAAA 

       310        320        330        340        350        360 
LQYPYALPPV APVLPPAVPL LPSGELGRKA AAFGSQLGPG LQLQLNSLGA AAAAAGTAGA 

       370        380        390        400        410        420 
AGTTASLIKS EPSARPSFSI ENIIGGGPAA PGGSAVGAGV AGGTGGSGGG STAQSFLRPP 

       430        440        450        460        470 
GTVQSAALMA THQPLSLSRT TATIAPILSV PLSGQFLQPA ASAAAAAAAA AQAKWPAQ 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF197560 Genomic DNA. Translation: AAF05844.1.
AL049636 Genomic DNA. Translation: CAC19431.1.
L12142 mRNA. Translation: AAK13574.1.
CCDSCCDS624.1.
RefSeqNP_036315.1. NM_012183.2.
UniGeneHs.546573.

3D structure databases

ProteinModelPortalQ9UJU5.
SMRQ9UJU5. Positions 140-236.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117959. 1 interaction.
IntActQ9UJU5. 1 interaction.
STRING9606.ENSP00000360157.

PTM databases

PhosphoSiteQ9UJU5.

Polymorphism databases

DMDM8134475.

Proteomic databases

PRIDEQ9UJU5.

Protocols and materials databases

DNASU27022.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371116; ENSP00000360157; ENSG00000187140.
GeneID27022.
KEGGhsa:27022.
UCSCuc001dax.2. human.

Organism-specific databases

CTD27022.
GeneCardsGC01P063788.
HGNCHGNC:3804. FOXD3.
HPACAB022455.
MIM607836. phenotype.
611539. gene.
neXtProtNX_Q9UJU5.
Orphanet247871. Vitiligo-associated autoimmune disease.
PharmGKBPA28221.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000231285.
HOVERGENHBG051641.
InParanoidQ9UJU5.
KOK09397.
OMAALQYPYA.
OrthoDBEOG7C8GHD.
PhylomeDBQ9UJU5.
TreeFamTF316127.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
SignaLinkQ9UJU5.

Gene expression databases

BgeeQ9UJU5.
CleanExHS_FOXD3.
GenevestigatorQ9UJU5.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSPR00053. FORKHEAD.
SMARTSM00339. FH. 1 hit.
[Graphical view]
PROSITEPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFOXD3.
GenomeRNAi27022.
NextBio49550.
PROQ9UJU5.
SOURCESearch...

Entry information

Entry nameFOXD3_HUMAN
AccessionPrimary (citable) accession number: Q9UJU5
Secondary accession number(s): Q9BYM2, Q9UDD1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 120 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM