FOXD3
entrez
27022
canonical
uniprot
Q9UJU5
canonical
ensembl
ENSG00000187140
resolver
ensp
ENSP00000360157
resolver
enst
ENST00000371116
resolver
genesymbol
FOXD3
resolver
genesymbol_syn
HFH2
resolver
hgnc
HGNC:3804
resolver
uniprot
Q9BYM2
resolver
uniprot
Q9UDD1
resolver
uniprot_entry
FOXD3_HUMAN
resolver
uniprot_sec
Q9BYM2
resolver
uniprot_sec
Q9UDD1
resolver
amino_acid_sequence
MTLSGGGSASDMSGQTVLTAEDVDIDVVGEGDDGLEEKDSDAGCDSPAGPPELRLDEADEVPPAAPHHGQPQPPHQQPLTLPKEAAGAGAGPGGDVGAPEADGCKGGVGGEEGGASGGGPGAGSGSAGGLAPSKPKNSLVKPPYSYIALITMAILQSPQKKLTLSGICEFISNRFPYYREKFPAWQNSIRHNLSLNDCFVKIPREPGNPGKGNYWTLDPQSEDMFDNGSFLRRRKRFKRHQQEHLREQTALMMQSFGAYSLAAAAGAAGPYGRPYGLHPAAAAGAYSHPAAAAAAAAAAALQYPYALPPVAPVLPPAVPLLPSGELGRKAAAFGSQLGPGLQLQLNSLGAAAAAAGTAGAAGTTASLIKSEPSARPSFSIENIIGGGPAAPGGSAVGAGVAGGTGGSGGGSTAQSFLRPPGTVQSAALMATHQPLSLSRTTATIAPILSVPLSGQFLQPAASAAAAAAAAAQAKWPAQ
uniprot
proteins
disease_involvement
DISEASE: Autoimmune disease 1 (AIS1) [MIM:607836]: An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis). {ECO:0000269|PubMed:16098053}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor (PubMed:11891324). Also acts as a transcriptional activator (PubMed:11891324). Negatively regulates transcription of transcriptional repressor RHIT/ZNF205 (PubMed:22306510). Promotes development of neural crest cells from neural tube progenitors (PubMed:11891324). Restricts neural progenitor cells to the neural crest lineage while suppressing interneuron differentiation (PubMed:11891324). Required for maintenance of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis (PubMed:11891324). {ECO:0000269|PubMed:11891324, ECO:0000269|PubMed:22306510}.
uniprot
proteins
mass_dalton
47630
uniprot
proteins
pubmed
11891324
uniprot
proteins
pubmed
16098053
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
22306510
uniprot
proteins
pubmed
8499623
uniprot
proteins
sequence_length
478
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins