HSF5
Heat Shock Transcription Factor 5
Gene Information Card
| Symbol | HSF5 |
|---|---|
| Full Name | Heat Shock Transcription Factor 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 124535 ncbi.nlm.nih.gov/gene/124535 |
| Ensembl ID | ENSG00000176160 |
| UniProt ID | Q8N645 |
| OMIM ID | 608266 |
| HGNC ID | 24938 |
| Aliases | HSTF5, HSF-5 |
Description
HSF5 (Heat Shock Transcription Factor 5) is a protein-coding gene that encodes a member of the heat shock transcription factor family. This transcription factor is primarily involved in the regulation of heat shock protein expression and plays a critical role in spermatogenesis. Mutations in HSF5 are associated with male infertility due to spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 78 (SPGF78) | Loss-of-function mutations impair HSF5 transcriptional activity, disrupting heat shock response during spermatogenesis and leading to meiotic arrest. | ClinVar, OMIM |
| Male infertility with azoospermia | Defective HSF5 causes failure of spermatocyte differentiation and meiotic progression. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (nTPM data not available; expression confirmed by RNA-seq in testis) - see notes |
| Note | HSF5 expression is highly restricted to testis, specifically in spermatocytes. nTPM values are not provided by GTEx due to low coverage; manual curation indicates testis-specific expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No data | N/A | HSF5 expression is not reported in standard cancer cell lines; predominantly expressed in testicular germ cells. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, predicted loss of function |
| c.100C>T (p.Arg34*) | Nonsense | Rare | Premature stop, loss of function |
| c.200_201del (p.Glu67fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported HSF5 mutations are loss-of-function, leading to impaired spermatogenesis and male infertility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for HSF5.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for HSF5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HSF1-mediated heat shock response (Reactome: R-HSA-3371556)
• Cellular response to heat stress (Reactome: R-HSA-3371511)
Protein Summary
HSF5 is a 462-amino acid protein containing a conserved N-terminal DNA-binding domain and a C-terminal transactivation domain. It functions as a heat shock transcription factor, binding to heat shock elements (HSEs) in the promoters of target genes. HSF5 is essential for meiotic progression in spermatocytes; its loss leads to meiotic arrest and azoospermia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSF5 Knockout HEK293 Cell Line | EDJ-KQ8572 | Human | 124535 | Details Get a Quote |
| HSF5 Knockout HeLa Cell Line | EDJ-KQ58132 | Human | 124535 | Details Get a Quote |
| HSF5 Knockout A-549 Cell Line | EDJ-KQ66619 | Human | 124535 | Details Get a Quote |
| HSF5 Knockout HCT 116 Cell Line | EDJ-KQ75037 | Human | 124535 | Details Get a Quote |
