HSFY1: Heat Shock Transcription Factor, Y-Linked 1
A Y-chromosome gene encoding a putative heat shock transcription factor with potential roles in spermatogenesis and male infertility.
Gene Information Card
| Symbol | HSFY1 |
|---|---|
| Full Name | Heat shock transcription factor, Y-linked 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.222 |
| NCBI Gene ID | 86614 ncbi.nlm.nih.gov/gene/86614 |
| Ensembl ID | ENSG00000172244 |
| UniProt ID | Q96LI6 |
| OMIM ID | 400024 |
| HGNC ID | 15962 |
| Aliases | HSFY, HSFY2, HSFY1P, HSFY2P |
Description
HSFY1 (Heat Shock Transcription Factor, Y-Linked 1) is a protein-coding gene located on the Y chromosome. It belongs to the heat shock factor (HSF) family and is thought to act as a transcription factor that regulates the expression of heat shock proteins. HSFY1 is predominantly expressed in the testis and is implicated in spermatogenesis. Deletions or mutations in this gene have been associated with male infertility, particularly non-obstructive azoospermia and severe oligozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Deletion or loss of HSFY1 may disrupt spermatogenesis by impairing heat shock response in testicular germ cells. | NCBI Gene, OMIM |
| Spermatogenic failure | Y-chromosome microdeletions encompassing HSFY1 are linked to impaired sperm production. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.5 | Not detected |
| Ovary | 0.3 | Not detected |
| Skin | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testicular germ cells (spermatogonia) | N/A | High expression by RNA-seq |
| Sertoli cells | N/A | Low expression |
| Leydig cells | N/A | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Deletion of Yq11.222 (AZFb region) | Copy number loss | Rare in general population; enriched in infertile men | Loss of HSFY1 and adjacent genes; associated with azoospermia |
| c.1A>G (p.Met1?) | Missense | Unknown | Potential loss of start codon; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Deletions or truncating mutations in HSFY1 are associated with impaired spermatogenesis and male infertility.
Gain of Function (GOF)
No evidence of gain-of-function mutations in HSFY1.
Dominant Negative (DN)
No evidence of dominant-negative effects for HSFY1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • nucleus (GO:0005634) |
| • regulation of transcription (GO:0006355) | • response to heat (GO:0009408) |
| • cellular response to heat (GO:0034605) |
Pathways
• Heat shock response pathway
• Cellular response to stress
Protein Summary
HSFY1 encodes a 401-amino acid protein that contains a conserved heat shock factor (HSF) DNA-binding domain. The protein is predicted to bind heat shock elements (HSEs) in the promoters of target genes and regulate their transcription in response to stress. HSFY1 is expressed primarily in the testis and is thought to play a role in protecting germ cells from heat-induced damage during spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSFY1 Knockout HEK293 Cell Line | EDJ-KQ9699 | Human | 86614 | Details Get a Quote |
| HSFY1 Knockout HeLa Cell Line | EDJ-KQ57732 | Human | 86614 | Details Get a Quote |
| HSFY1 Knockout A-549 Cell Line | EDJ-KQ66229 | Human | 86614 | Details Get a Quote |
| HSFY1 Knockout HCT 116 Cell Line | EDJ-KQ74651 | Human | 86614 | Details Get a Quote |
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