SPACA7: Sperm Acrosome Associated 7
A testis-specific gene encoding a protein involved in acrosome biogenesis and sperm function
Gene Information Card
| Symbol | SPACA7 |
|---|---|
| Full Name | Sperm Acrosome Associated 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 100130211 ncbi.nlm.nih.gov/gene/100130211 |
| Ensembl ID | ENSG00000205670 |
| UniProt ID | A6NKD9 |
| OMIM ID | 616726 |
| HGNC ID | 37257 |
| Aliases | C19orf36, SPACA7L |
Description
SPACA7 (Sperm Acrosome Associated 7) is a protein-coding gene located on chromosome 19q13.42. It is predominantly expressed in the testis and encodes a protein localized to the acrosome of spermatozoa. SPACA7 is involved in acrosome biogenesis and sperm-egg fusion, playing a critical role in male fertility. Mutations in SPACA7 have been associated with spermatogenic failure and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 79 (SPGF79) | Loss-of-function mutations impair acrosome formation, leading to defective sperm-egg fusion | OMIM #616726; ClinVar |
| Male infertility with acrosomal defects | Disruption of SPACA7 protein results in abnormal acrosome morphology and reduced fertilization capacity | PubMed; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
| Prostate | 0.1 | Not detected |
| Skin | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa (ejaculated) | N/A | High expression confirmed by immunohistochemistry |
| Testicular germ cells | N/A | Enriched in spermatids and spermatocytes |
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, likely loss of function |
| c.152C>T (p.Pro51Leu) | Missense | 0.0004 (gnomAD) | Reduced protein stability, associated with infertility |
| c.238_239del (p.Leu80fs) | Frameshift | Very rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent protein, causing acrosome defects and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • acrosomal vesicle (GO:0001669) | • binding of sperm to zona pellucida (GO:0007339) |
| • sperm-egg fusion (GO:0035039) | • sperm capacitation (GO:0048240) |
Pathways
• Sperm-egg fusion pathway
• Acrosome biogenesis
Protein Summary
The SPACA7 protein (UniProt A6NKD9) is a 103-amino acid polypeptide with a signal peptide and a conserved domain of unknown function (DUF). It is localized to the acrosomal membrane and is essential for acrosome integrity and sperm-egg fusion. The protein undergoes post-translational modifications including glycosylation. Its expression is testis-specific, and loss of function leads to male infertility due to acrosomal defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPACA7 Knockout HEK293 Cell Line | EDJ-KQ8147 | Human | 122258 | Details Get a Quote |
| SPACA7 Knockout HeLa Cell Line | EDJ-KQ58096 | Human | 122258 | Details Get a Quote |
| SPACA7 Knockout A-549 Cell Line | EDJ-KQ66584 | Human | 122258 | Details Get a Quote |
| SPACA7 Knockout HCT 116 Cell Line | EDJ-KQ75000 | Human | 122258 | Details Get a Quote |
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