Human Gene HSF4 (ENST00000521374.6_6) from GENCODE V47lift37
  Description: heat shock transcription factor 4, transcript variant 4 (from RefSeq NM_001374675.1)
Gencode Transcript: ENST00000521374.6_6
Gencode Gene: ENSG00000102878.18_14
Transcript (Including UTRs)
   Position: hg19 chr16:67,198,648-67,203,844 Size: 5,197 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr16:67,198,715-67,203,688 Size: 4,974 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:67,198,648-67,203,844)mRNA (may differ from genome)Protein (492 aa)
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-  Comments and Description Text from UniProtKB
  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.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HSF4
Diseases sorted by gene-association score: cataract 5, multiple types* (1330), cataract 44* (247), cataract 16, multiple types* (157), cataract (18), acute tympanitis (17), cauda equina neoplasm (16), chronic purulent otitis media (11), parotid disease (11), intracranial hypotension (9), suppurative lymphadenitis (8), lung abscess (8), vulvitis (7), vulvar disease (7), tympanic membrane disease (7), suppurative otitis media (7), ritter's disease (7), cervical adenitis (7), thoracic outlet syndrome (7), bronchopneumonia (6), polyradiculopathy (6), meningocele (6), scarlet fever (6), pleural empyema (5), impetigo (5), syringomyelia (5), spinal cord disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.69 RPKM in Pituitary
Total median expression: 1046.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.7067-0.473 Picture PostScript Text
3' UTR -39.00156-0.250 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000232 - HSF_DNA-bd
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00447 - HSF-type DNA-binding

SCOP Domains:
46785 - "Winged helix" DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q9ULV5
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  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

Cellular Component:
GO:0005634 nucleus
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  LF213562 - JP 2014500723-A/21065: Polycomb-Associated Non-Coding RNAs.
AK307211 - Homo sapiens cDNA, FLJ97159.
AK308638 - Homo sapiens cDNA, FLJ98679.
AK293631 - Homo sapiens cDNA FLJ57873 complete cds, moderately similar to Heat shock factor protein 4.
BC130383 - Homo sapiens cDNA clone IMAGE:40146414.
AK296210 - Homo sapiens cDNA FLJ60115 complete cds, highly similar to Heat shock factor protein 4.
AK225152 - Homo sapiens mRNA for Heat shock factor protein 4 variant, clone: CBL05977.
BC146446 - Synthetic construct Homo sapiens clone IMAGE:100015118, MGC:180210 heat shock transcription factor 4 (HSF4) mRNA, encodes complete protein.
BC153061 - Synthetic construct Homo sapiens clone IMAGE:100016327, MGC:184284 heat shock transcription factor 4 (HSF4) mRNA, encodes complete protein.
AB463724 - Synthetic construct DNA, clone: pF1KB7381, Homo sapiens HSF4 gene for heat shock transcription factor 4, without stop codon, in Flexi system.
AB029348 - Homo sapiens mRNA for transcription factor HSF4b isoform, complete cds.
D87673 - Homo sapiens mRNA for heat shock transcription factor 4, complete cds.
JD191958 - Sequence 172982 from Patent EP1572962.
JD125122 - Sequence 106146 from Patent EP1572962.
JD390317 - Sequence 371341 from Patent EP1572962.
JD419067 - Sequence 400091 from Patent EP1572962.
MA449139 - JP 2018138019-A/21065: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000521374.1, ENST00000521374.2, ENST00000521374.3, ENST00000521374.4, ENST00000521374.5, HSF4_HUMAN, NM_001374675, Q99472, Q9ULV5, Q9ULV6, uc323uyv.1, uc323uyv.2
UCSC ID: ENST00000521374.6_6
RefSeq Accession: NM_001374675.1
Protein: Q9ULV5 (aka HSF4_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.