SPACA9: Sperm Acrosome Associated 9
A testis-specific gene encoding a protein involved in acrosome biogenesis and sperm function.
Gene Information Card
| Symbol | SPACA9 |
|---|---|
| Full Name | Sperm Acrosome Associated 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 100287879 ncbi.nlm.nih.gov/gene/100287879 |
| Ensembl ID | ENSG00000205707 |
| UniProt ID | Q6ZQN5 |
| OMIM ID | 615565 |
| HGNC ID | 37241 |
| Aliases | C9orf9, SPACA9, bA203J24.7 |
Description
SPACA9 (Sperm Acrosome Associated 9) is a protein-coding gene located on chromosome 9q34.3. It is predominantly expressed in the testis and encodes a protein localized to the sperm acrosome. The protein is involved in acrosome biogenesis and is essential for normal sperm function. Mutations or dysregulation of SPACA9 may contribute to male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Disruption of acrosome formation or function due to SPACA9 deficiency | Limited evidence from animal models; human studies needed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | Expressed in mature sperm |
| Testicular germ cells | N/A | Expressed in spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; predicted to affect protein expression |
Mutation functional classification
Loss of Function (LOF)
Predicted loss-of-function variants (e.g., start codon loss) may impair acrosome formation.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • acrosomal vesicle (GO:0001669) | • spermatogenesis (GO:0007283) |
| • single fertilization (GO:0007338) | • sperm-egg recognition (GO:0035036) |
Pathways
• Spermatogenesis
• Fertilization
Protein Summary
The SPACA9 protein is a 267-amino acid polypeptide with a signal peptide and a conserved domain of unknown function (DUF). It is localized to the acrosome of spermatozoa and is thought to play a role in acrosome biogenesis and sperm-egg fusion. The protein is testis-specific and essential for male fertility in mice.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPACA9 Knockout HEK293 Cell Line | EDJ-KQ7279 | Human | 11092 | Details Get a Quote |
| SPACA9 Knockout A-549 Cell Line | EDJ-KQ32304 | Human | 11092 | Details Get a Quote |
| SPACA9 Knockout HCT 116 Cell Line | EDJ-KQ32305 | Human | 11092 | Details Get a Quote |
| SPACA9 Knockout HeLa Cell Line | EDJ-KQ32306 | Human | 11092 | Details Get a Quote |
