HSF4 heat shock transcription factor 4 [Homo sapiens] - Gene

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Summary

Official Symbol: HSF4provided by HGNC
Official Full Name: heat shock transcription factor 4provided by HGNC
Primary source: HGNC:5227
See related: Ensembl:ENSG00000102878; HPRD:03896; MIM:602438; Vega:OTTHUMG00000163737
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTM
Summary: Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 16q21

Sequence :: Chromosome: 16; NC_000016.9 (67197288..67203848)

See HSF4 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, mental retardation and microcephaly.
Title: Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
our findings suggest novel mechanisms of HSF2 regulation controlled by HSF4a.
Title: Heat shock factor 4a (HSF4a) represses HSF2 expression and HSF2-mediated transcriptional activity.
HSF2 and HSF4 regulate transcription of HIF-1a and that a critical balance between these HSF is required to maintain HIF-a expression in a repressed state.
Title: Regulation of transcription of hypoxia-inducible factor-1α (HIF-1α) by heat shock factors HSF2 and HSF4.
two missense mutations that have been associated with age-related cataract did not or only slightly alter HSF4 activity, implying that other genetic and environmental factors affect the functions of these mutant proteins.
Title: DNA-binding and transcriptional activities of human HSF4 containing mutations that associate with congenital and age-related cataracts.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Hsf4b could interact with and phosphorylated by MAP kinase P38.
Title: [Construction of eukaryotic plasmid expression Hsf4b and phosphorylation of Hsf4b by MAP kinase P38].
we have shown the first nonsense mutation in HSF4 causing autosomal recessive cataracts in a large consanguineous family from Pakistan
Title: A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
This result indicates that HSF4 mutations account for only a small fraction of age-related cataracts.
Title: Mutation screening of HSF4 in 150 age-related cataract patients.
The results indicate that in the absence of Hsf1 and Hsf2, Hsf4b expression in cells leads to increased ability of Hsf4b to bind HSE during G1, leading to enhanced synthesis of inducible Hsp70.
Title: Heat shock transcription factor (Hsf)-4b recruits Brg1 during the G1 phase of the cell cycle and regulates the expression of heat shock proteins.

Submit: New GeneRIF Correction See all (15)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q9ULV5	Dual specificity phosphatase 26	DUSP26	HPRD	PubMed
Q9ULV5	Q9ULV5	HSF4	HPRD	PubMed
Q9ULV5	P28482	MAPK1	HPRD	PubMed
Q9ULV5	Q16539	MAPK14	HPRD	PubMed
Q9ULV5	P27361	MAPK3	HPRD	PubMed
Q9ULV5	P45983	MAPK8	HPRD	PubMed
Q9ULV5	Q9Y2P5	SLC27A5	HPRD	PubMed
BioGRID:109532	BioGRID:107076	BCL6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109532	BioGRID:121989	C5orf54	BioGRID	PubMed	Two-hybrid
BioGRID:109532	BioGRID:115555	CDK2AP2	BioGRID	PubMed	Two-hybrid
BioGRID:109532	BioGRID:116237	NUDT21	BioGRID	PubMed	Two-hybrid
BioGRID:109532	BioGRID:112481	SMARCA4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
transcription corepressor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
camera-type eye development	IEA Inferred from Electronic Annotation more info
cell development	IEA Inferred from Electronic Annotation more info
histone H3-K9 demethylation	IEA Inferred from Electronic Annotation more info
negative regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
positive regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
protein homotrimerization	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
response to stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: heat shock factor protein 4

Names: heat shock factor protein 4; HSF 4; hHSF4; HSTF 4

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009294.1 RefSeqGene

Range

5001..11561

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040667.2 → NP_001035757.1 heat shock factor protein 4 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a longer protein (isoform b). This variant, alternatively referred to as HSF4b, functions as a transcriptional activator of the constitutive expression of heat shock genes.

Source sequence(s)

AC074143, AK307211, BC130383, BX348481, CA412687, DA111974

Consensus CDS

CCDS42175.1

UniProtKB/Swiss-Prot

Q9ULV5

Related

ENSP00000264009, ENST00000264009

Conserved Domains (1) summary

cl12113
Location:16 – 120
Blast Score: 459

HSF_DNA-bind; HSF-type DNA-binding
NM_001538.3 → NP_001529.2 heat shock factor protein 4 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the shorter protein (isoform a). This variant, alternatively referred to as HSF4a, functions as an inhibitor of the constitutive expression of heat shock genes.

Source sequence(s)

AK307211, BX348481, CA412687, D87673, DA111974

Consensus CDS

CCDS45510.1

UniProtKB/Swiss-Prot

Q9ULV5

Related

ENSP00000408815, OTTHUMP00000224686, ENST00000421453, OTTHUMT00000375068

Conserved Domains (1) summary

cl12113
Location:16 – 120
Blast Score: 457

HSF_DNA-bind; HSF-type DNA-binding

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

67197288..67203848

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

53070801..53077037

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB029347.1	BAA84581.1
genomic	AC074143.5 (133447..138577)	None
genomic	CH471092.1	EAW83083.1
		EAW83084.1
		EAW83085.1
		EAW83086.1
mRNA	AB029348.1	BAA84582.1
mRNA	AK225152.1	None
mRNA	AK293631.1	BAG57087.1
mRNA	AK296210.1	BAG58936.1
mRNA	AK307211.1	None
mRNA	AK308638.1	None
mRNA	BC130383.1	None
mRNA	BG980713.1	None
mRNA	BI001524.1	None
mRNA	BM768246.1	None
mRNA	BM805441.1	None
mRNA	BX348481.2	None
mRNA	CA412687.1	None
mRNA	D87673.1	BAA13433.1
mRNA	DA111974.1	None
mRNA	DA372008.1	None
other-genetic	BC146446.1	AAI46447.1
other-genetic	BC153061.1	AAI53062.1