Gene Gene information from NCBI Gene database.
Entrez ID 3297
Gene name Heat shock transcription factor 1
Gene symbol HSF1
Synonyms (NCBI Gene)
HSTF1
Chromosome 8
Chromosome location 8q24.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
43
miRTarBase ID miRNA Experiments Reference
MIRT029982 hsa-miR-26b-5p Microarray 19088304
MIRT439159 hsa-let-7c-5p 3'LIFE 25074381
MIRT439159 hsa-let-7c-5p 3'LIFE 25074381
MIRT1055712 hsa-miR-1197 CLIP-seq
MIRT1055713 hsa-miR-1275 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
CEBPB Unknown 11801594
NCOA6 Activation 14960326
SIRT1 Activation 23349863
SIRT1 Unknown 19229036
TP53 Unknown 20180806
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
127
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8926278, 9341107
GO:0000165 Process MAPK cascade IDA 12917326
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 18794143
GO:0000776 Component Kinetochore IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
140580 5224 ENSG00000185122
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00613
Protein name Heat shock factor protein 1 (HSF 1) (Heat shock transcription factor 1) (HSTF 1)
Protein function Functions as a stress-inducible and DNA-binding transcription factor that plays a central role in the transcriptional activation of the heat shock response (HSR), leading to the expression of a large class of molecular chaperones, heat shock pro
PDB 2LDU , 5D5U , 5D5V , 5HDG , 5HDN , 7DCJ , 7DCS , 7DCT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00447 HSF_DNA-bind 18 118 HSF-type DNA-binding Domain
PF06546 Vert_HS_TF 247 529 Vertebrate heat shock transcription factor Family
Sequence
Sequence length 529
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Legionellosis   Regulation of HSF1-mediated heat shock response
HSF1 activation
Attenuation phase
HSF1-dependent transactivation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia LHGDN 17213196
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29194340
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 10702402
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 26320184
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 31744878
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 27457810
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 23829269
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 24256636, 25167838, 26936937, 29973287
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis CTD_human_DG 24256636
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 16950627
★☆☆☆☆
Found in Text Mining only