Human Gene FOXA1 (ENST00000250448.3) Description and Page Index
Description: Homo sapiens forkhead box A1 (FOXA1), mRNA. (from RefSeq NM_004496) RefSeq Summary (NM_004496): This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC033890.1, SRR7346977.1217667.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Gencode Transcript: ENST00000250448.3 Gencode Gene: ENSG00000129514.6 Transcript (Including UTRs) Position: hg38 chr14:37,589,552-37,595,113 Size: 5,562 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr14:37,591,365-37,594,972 Size: 3,608 Coding Exon Count: 2
ID:FOXA1_HUMAN DESCRIPTION: RecName: Full=Hepatocyte nuclear factor 3-alpha; Short=HNF-3-alpha; Short=HNF-3A; AltName: Full=Forkhead box protein A1; AltName: Full=Transcription factor 3A; Short=TCF-3A; FUNCTION: Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). Proposed to play a role in translating the epigenetic signatures into cell type-specific enhancer-driven transcriptional programs. Its differential recruitment to chromatin is dependent on distribution of histone H3 methylated at 'Lys-5' (H3K4me2) in estrogen-regulated genes. Involved in the development of multiple endoderm-derived organ systems such as liver, pancreas, lung and prostate; FOXA1 and FOXA2 seem to have at least in part redundant roles (By similarity). Modulates the transcriptional activity of nuclear hormone receptors. Is involved in ESR1-mediated transcription; required for ESR1 binding to the NKX2-1 promoter in breast cancer cells; binds to the RPRM promter and is required for the estrogen-induced repression of RPRM. Involved in regulation of apoptosis by inhibiting the expression of BCL2. Involved in cell cycle regulation by activating expression of CDKN1B, alone or in conjunction with BRCA1. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis- acting regulatory regions of these genes. Involved in glucose homeostasis. SUBUNIT: Binds DNA as a monomer (By similarity). Interacts with FOXA2. Interacts with NKX2-1. Interacts with HDAC7. Interacts with the histone H3-H4 heterodimer. Associates with nucleosomes containing histone H2A. Interacts with AR. Interacts with NR0B2 (By similarity). SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Highly expressed in prostate and ESR1-positive breast tumors. Overexpressed in esophageal and lung adenocarcinomas. SIMILARITY: Contains 1 fork-head DNA-binding domain. WEB RESOURCE: Name=Wikipedia; Note=Hepatocyte nuclear factors entry; URL="http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors";
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 P55317
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001228 transcriptional activator 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:0008134 transcription factor binding GO:0019904 protein domain specific binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006325 chromatin organization GO:0006338 chromatin remodeling GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0007219 Notch signaling pathway GO:0007275 multicellular organism development GO:0009653 anatomical structure morphogenesis GO:0010468 regulation of gene expression GO:0010719 negative regulation of epithelial to mesenchymal transition GO:0021904 dorsal/ventral neural tube patterning GO:0030324 lung development GO:0032355 response to estradiol GO:0033148 positive regulation of intracellular estrogen receptor signaling pathway GO:0035239 tube morphogenesis GO:0042445 hormone metabolic process GO:0042593 glucose homeostasis GO:0043065 positive regulation of apoptotic process GO:0045666 positive regulation of neuron differentiation GO:0045880 positive regulation of smoothened signaling pathway GO:0045931 positive regulation of mitotic cell cycle GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048646 anatomical structure formation involved in morphogenesis GO:0048665 neuron fate specification GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051726 regulation of cell cycle GO:0060425 lung morphogenesis GO:0060441 epithelial tube branching involved in lung morphogenesis GO:0060487 lung epithelial cell differentiation GO:0060528 secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development GO:0060738 epithelial-mesenchymal signaling involved in prostate gland development GO:0060740 prostate gland epithelium morphogenesis GO:0060741 prostate gland stromal morphogenesis GO:0060743 epithelial cell maturation involved in prostate gland development GO:0061144 alveolar secondary septum development GO:0061448 connective tissue development GO:0071542 dopaminergic neuron differentiation GO:1902691 respiratory basal cell differentiation GO:2000049 positive regulation of cell-cell adhesion mediated by cadherin