• Gene id: 3297

Gene Summary

• Gene Symbol: HSF1   Gene   UCSC   Ensembl
• Aliases: HSTF1
• Gene name: heat shock transcription factor 1
• Alternate names: heat shock factor protein 1,
• Gene location: 8q24.3 (144291568: 144314725)     Exons: 14     NC_000008.11
• Gene summary(Entrez): The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phosphorylat
• OMIM: 140580

Protein Summary

• Protein general information: Q00613  
  • Name: Heat shock factor protein 1 (HSF 1) (Heat shock transcription factor 1) (HSTF 1)
  • Length: 529  
  • Mass: 57,260
• Sequence:

  MDLPVGPGAAGPSNVPAFLTKLWTLVSDPDTDALICWSPSGNSFHVFDQGQFAKEVLPKYFKHNNMASFVRQLNM
  YGFRKVVHIEQGGLVKPERDDTEFQHPCFLRGQEQLLENIKRKVTSVSTLKSEDIKIRQDSVTKLLTDVQLMKGK
  QECMDSKLLAMKHENEALWREVASLRQKHAQQQKVVNKLIQFLISLVQSNRILGVKRKIPLMLNDSGSAHSMPKY
  SRQFSLEHVHGSGPYSAPSPAYSSSSLYAPDAVASSGPIISDITELAPASPMASPGGSIDERPLSSSPLVRVKEE
  PPSPPQSPRVEEASPGRPSSVDTLLSPTALIDSILRESEPAPASVTALTDARGHTDTEGRPPSPPPTSTPEKCLS
  VACLDKNELSDHLDAMDSNLDNLQTMLSSHGFSVDTSALLDLFSPSVTVPDMSLPDLDSSLASIQELLSPQEPPR
  PPEAENSSPDSGKQLVHYTAQPLFLLDPGSVDTGSNDLPVLFELGEGSYFSEGDGFAEDPTISLLTGSEPPKAKD
  PTVS

• Structural information:
  • Interpro: IPR000232  IPR027725  IPR010542  IPR036388  IPR036390  
  • Prosite: PS00434
  • PDB: 2LDU 5D5U 5D5V 5HDG 5HDN
  • PDBsum: 2LDU 5D5U 5D5V 5HDG 5HDN
  • DIP: 35670
  • STRING: ENSP00000431512
• Other Databases: GeneCards:  HSF1  Malacards:  HSF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IEA	molecular function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0001162	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001892	embryonic placenta development	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006952	defense response	IEA	biological process
GO:0007143	female meiotic division	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0009299	mRNA transcription	IDA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IEA	biological process
GO:0034605	cellular response to heat	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0043234	protein complex	IEA	cellular component
GO:0045120	pronucleus	IEA	cellular component
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0060136	embryonic process involved in female pregnancy	IEA	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IEA	molecular function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0001162	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001892	embryonic placenta development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006952	defense response	IEA	biological process
GO:0007143	female meiotic division	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0009299	mRNA transcription	IDA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IEA	biological process
GO:0034605	cellular response to heat	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0043234	protein complex	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045120	pronucleus	IEA	cellular component
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0060136	embryonic process involved in female pregnancy	IEA	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0001162	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009299	mRNA transcription	IDA	biological process
GO:0034605	cellular response to heat	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05134	Legionellosis

Diseases

Associated diseases	References
Cancer	GAD: 10702402
Cancer (prostate adenocarcinoma)	GAD: 10702402
Female infertility	INFBASE: 20199104
Endometriosis	INFBASE: 20199104
Varicocele	MIK: 20096881
Oligozoospermia	MIK: 20096881
Cryptorchidism	MIK: 28606200
Involved in germ cell removal in cryptorchid testis	MIK: 21480429
Oligozoospermia	MIK: 20096881
Varicocele	MIK: 20096881
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20096881	Oligozoospermia, varicocele			185 (117 patients with varicocele and 68 controls without varicocele)	Male infertility	HSPA4 HSF1 HSP90 and HSF2
20096881	Oligozoospermia, varicocele			185 (117 consecutive patients with varicocele, 68 controls without varicocele)	Male infertility	HSP90 HSPA4 HSF1 HSF2 and HSFY
21480429	Involved in germ cell removal in cryptorchid testis				Male infertility
24599545	Regulates the process of spermatogenesis				Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R