Human Gene FOXD3 (ENST00000371116.4) from GENCODE V44
Description: Homo sapiens forkhead box D3 (FOXD3), mRNA. (from RefSeq NM_012183) RefSeq Summary (NM_012183): This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000371116.4/ ENSP00000360157.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gencode Transcript: ENST00000371116.4 Gencode Gene: ENSG00000187140.6 Transcript (Including UTRs) Position: hg38 chr1:63,322,567-63,325,128 Size: 2,562 Total Exon Count: 1 Strand: + Coding Region Position: hg38 chr1:63,323,059-63,324,495 Size: 1,437 Coding Exon Count: 1
ID:FOXD3_HUMAN DESCRIPTION: RecName: Full=Forkhead box protein D3; AltName: Full=HNF3/FH transcription factor genesis; 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. INTERACTION: Q01860:POU5F1; NbExp=2; IntAct=EBI-475674, EBI-475687; 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. DISEASE: Defects in FOXD3 are associated with susceptibility to autoimmune disease type 1 (AIS1) [MIM:607836]. AIS1 is a disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis). SIMILARITY: Contains 1 fork-head DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UJU5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001701 in utero embryonic development GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007275 multicellular organism development GO:0009653 anatomical structure morphogenesis GO:0030154 cell differentiation GO:0035019 somatic stem cell population maintenance GO:0045944 positive regulation of transcription from RNA polymerase II promoter