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Protein

Forkhead box protein D3

Gene

FOXD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi141 – 235Fork-headPROSITE-ProRule annotationAdd BLAST95

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2892247 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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000187140.5
HGNCiHGNC:3804 FOXD3
MIMi611539 gene
neXtProtiNX_Q9UJU5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

DisGeNETi27022
MalaCardsiFOXD3
MIMi607836 phenotype
OpenTargetsiENSG00000187140
Orphaneti247871 Vitiligo-associated autoimmune disease
PharmGKBiPA28221

Polymorphism and mutation databases

BioMutaiFOXD3
DMDMi8134475

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000918171 – 478Forkhead box protein D3Add BLAST478

Proteomic databases

EPDiQ9UJU5
PaxDbiQ9UJU5
PeptideAtlasiQ9UJU5
PRIDEiQ9UJU5
ProteomicsDBi84658

PTM databases

iPTMnetiQ9UJU5
PhosphoSitePlusiQ9UJU5

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

BgeeiENSG00000187140
CleanExiHS_FOXD3
GenevisibleiQ9UJU5 HS

Organism-specific databases

HPAiCAB022455

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi117959, 17 interactors
IntActiQ9UJU5, 16 interactors
MINTiQ9UJU5
STRINGi9606.ENSP00000360157

Structurei

3D structure databases

ProteinModelPortaliQ9UJU5
SMRiQ9UJU5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi262 – 268Poly-Ala7
Compositional biasi280 – 285Poly-Ala6
Compositional biasi290 – 300Poly-AlaAdd BLAST11
Compositional biasi350 – 355Poly-Ala6
Compositional biasi460 – 473Poly-AlaAdd BLAST14

Phylogenomic databases

eggNOGiKOG2294 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00920000148947
HOGENOMiHOG000231285
HOVERGENiHBG051641
InParanoidiQ9UJU5
KOiK09397
OMAiTALMMQS
OrthoDBiEOG091G0HW9
PhylomeDBiQ9UJU5
TreeFamiTF316127

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00250 Forkhead, 1 hit
PRINTSiPR00053 FORKHEAD
SMARTiView protein in SMART
SM00339 FH, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti200V → D in AAK13574 (PubMed:8499623).Curated1
Sequence conflicti207 – 210GNPG → ATRP in AAK13574 (PubMed:8499623).Curated4
Sequence conflicti239R → A in AAK13574 (PubMed:8499623).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF197560 Genomic DNA Translation: AAF05844.1
AL049636 Genomic DNA No translation available.
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.3 human

Similar proteinsi

Entry informationi

Entry nameiFOXD3_HUMAN
AccessioniPrimary (citable) accession number: Q9UJU5
Secondary accession number(s): Q9BYM2, Q9UDD1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 2000
Last modified: June 20, 2018
This is version 154 of the entry and version 1 of the sequence. See 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

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