ID:HSF4_HUMAN DESCRIPTION: RecName: Full=Heat shock factor protein 4; Short=HSF 4; Short=hHSF4; AltName: Full=Heat shock transcription factor 4; Short=HSTF 4; FUNCTION: DNA-binding protein that specifically binds heat shock promoter elements (HSE). Isoform HSF4A represses transcription while the isoform HSF4B activates transcription. SUBUNIT: Homotrimer. Exhibits constitutive DNA binding and forms trimers even in the absence of stress. Interacts with DUSP26, MAPK1, MAPK2 and MAP kinase p38. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, eye and brain, and at much lower levels in some other tissues. PTM: Phosphorylated mainly on serine residues. Phosphorylation on Ser-298 promotes sumoylation on Lys-293. PTM: Isoform HSF4B is constitutively sumoylated. Sumoylation represses the transcriptional activity and is promoted by phosphorylation on Ser-298. HSFA is not sumoylated. DISEASE: Defects in HSF4 are the cause of cataract, zonular (CZ) [MIM:116800]. A form of zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. DISEASE: Defects in HSF4 are the cause of cataract Marner type (CAM) [MIM:116800]. A form of cataract with variable and progressive opacities. Affected individuals present with zonular cataract, although some have nuclear, anterior polar, or stellate cataract. Finger malformation is observed in some kindreds. SIMILARITY: Belongs to the HSF family.
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 Q9ULV5
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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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003714 transcription corepressor activity GO:0019903 protein phosphatase binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001654 eye development GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007601 visual perception GO:0008284 positive regulation of cell proliferation GO:0033169 histone H3-K9 demethylation GO:0043010 camera-type eye development GO:0045597 positive regulation of cell differentiation GO:0045892 negative regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048468 cell development GO:0051260 protein homooligomerization GO:0070207 protein homotrimerization