HSF4
entrez
3299
canonical
uniprot
Q9ULV5
canonical
ensembl
ENSG00000102878
resolver
ensp
ENSP00000430947
resolver
ensp
ENSP00000463706
resolver
genesymbol
HSF4
resolver
hgnc
HGNC:5227
resolver
uniprot
Q99472
resolver
uniprot
Q9ULV6
resolver
uniprot_entry
HSF4_HUMAN
resolver
uniprot_sec
Q99472
resolver
uniprot_sec
Q9ULV6
resolver
amino_acid_sequence
MQEAPAALPTEPGPSPVPAFLGKLWALVGDPGTDHLIRWSPSGTSFLVSDQSRFAKEVLPQYFKHSNMASFVRQLNMYGFRKVVSIEQGGLLRPERDHVEFQHPSFVRGREQLLERVRRKVPALRGDDGRWRPEDLGRLLGEVQALRGVQESTEARLRELRQQNEILWREVVTLRQSHGQQHRVIGKLIQCLFGPLQAGPSNAGGKRKLSLMLDEGSSCPTPAKFNTCPLPGALLQDPYFIQSPLPETNLGLSPHRARGPIISDIPEDSPSPEGTRLSPSSDGRREKGLALLKEEPASPGGDGEAGLALAPNECDFCVTAPPPLPVAVVQAILEGKGSFSPEGPRNAQQPEPGDPREIPDRGPLGLESGDRSPESLLPPMLLQPPQESVEPAGPLDVLGPSLQGREWTLMDLDMELSLMQPLVPERGEPELAVKGLNSPSPGKDPTLGAPLLLDVQAALGGPALGLPGALTIYSTPESRTASYLGPEASPSP
uniprot
proteins
disease_involvement
DISEASE: Cataract 5, multiple types (CTRCT5) [MIM:116800]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT5 includes infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type cataracts, among others. Finger malformation is observed in some kindreds. {ECO:0000269|PubMed:12089525, ECO:0000269|PubMed:16876512, ECO:0000269|PubMed:19182255, ECO:0000269|PubMed:22587838, ECO:0000269|PubMed:23507146}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Heat-shock transcription factor that specifically binds heat shock promoter elements (HSE) (PubMed:22587838, PubMed:23507146). Required for denucleation and organelle rupture and degradation that occur during eye lens terminal differentiation, when fiber cells that compose the lens degrade all membrane-bound organelles in order to provide lens with transparency to allow the passage of light (By similarity). In this process, may regulate denucleation of lens fiber cells in part by activating DNASE2B transcription (By similarity). May be involved in DNA repair through the transcriptional regulation of RAD51 (PubMed:22587838). May up-regulate p53/TP53 protein in eye lens fiber cells, possibly through protein stabilization (PubMed:28981088). In the eye lens, controls the expression of alpha-crystallin B chain/CRYAB and consequently may be involved in the regulation of lysosomal acidification (By similarity). {ECO:0000250|UniProtKB:Q5CZP2, ECO:0000250|UniProtKB:Q9R0L1, ECO:0000269|PubMed:22587838, ECO:0000269|PubMed:23507146, ECO:0000269|PubMed:28981088}.; FUNCTION: [Isoform HSF4A]: Transcriptional repressor. {ECO:0000269|PubMed:10488131}.; FUNCTION: [Isoform HSF4B]: Transcriptional activator. {ECO:0000269|PubMed:10488131, ECO:0000269|PubMed:16371476}.
uniprot
proteins
mass_dalton
53011
uniprot
proteins
mutagenesis
MUTAGEN 293; /note="K->R: Abolishes sumoylation. 10-fold increased in transactivational activity."; /evidence="ECO:0000269|PubMed:16371476"; MUTAGEN 298; /note="S->A: Abolishes phosphorylation. Greatly reduced sumoylation. Greatly increased transactivational activity."; /evidence="ECO:0000269|PubMed:16371476
uniprot
proteins
post_translational_modification
PTM: Phosphorylated mainly on serine residues. Phosphorylation on Ser-298 promotes sumoylation on Lys-293. {ECO:0000269|PubMed:16371476}.; PTM: Isoform HSF4B is constitutively sumoylated. Sumoylation represses the transcriptional activity and is promoted by phosphorylation on Ser-298. HSFA is not sumoylated. {ECO:0000269|PubMed:16371476}.
uniprot
proteins
protein_family
HSF family
uniprot
proteins
pubmed
10488131
uniprot
proteins
pubmed
12089525
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16371476
uniprot
proteins
pubmed
16581800
uniprot
proteins
pubmed
16876512
uniprot
proteins
pubmed
19182255
uniprot
proteins
pubmed
22587838
uniprot
proteins
pubmed
23145062
uniprot
proteins
pubmed
23507146
uniprot
proteins
pubmed
28981088
uniprot
proteins
pubmed
8972228
uniprot
proteins
sequence_length
492
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10488131}.
uniprot
proteins