SPACA1: Sperm Acrosome Associated 1
A key gene in sperm acrosome biogenesis and male fertility
Gene Information Card
| Symbol | SPACA1 |
|---|---|
| Full Name | Sperm Acrosome Associated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q15 |
| NCBI Gene ID | 81833 ncbi.nlm.nih.gov/gene/81833 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9HBV2 |
| OMIM ID | 612738 |
| HGNC ID | 24019 |
| Aliases | SPACA, SPACA1a, SPACA1b |
Description
SPACA1 (Sperm Acrosome Associated 1) encodes a protein localized to the sperm acrosome, essential for acrosome biogenesis and sperm-egg fusion. Mutations in SPACA1 cause male infertility due to globozoospermia or acrosomal defects. The protein is testis-specific and highly conserved in mammals.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with globozoospermia | Loss-of-function mutations disrupt acrosome formation, leading to round-headed sperm unable to fertilize oocytes | OMIM #612738; PMID: 22698640 |
| Spermatogenic failure | Defective SPACA1 impairs acrosome biogenesis and sperm motility | ClinVar; PMID: 31056563 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa (mature) | N/A | High expression in acrosome |
| 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 | Loss of start codon, no protein produced |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, truncated protein |
| c.344_345del (p.Gln115Argfs*2) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations cause complete loss of SPACA1 protein, leading to acrosome defects and male 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) | • acrosomal membrane (GO:0002080) |
| • binding of sperm to zona pellucida (GO:0007339) | • sperm-egg fusion (GO:0035036) |
| • sperm capacitation (GO:0048240) |
Pathways
• Spermatogenesis
• Acrosome biogenesis
• Fertilization
Protein Summary
SPACA1 is a 267-amino acid protein with a signal peptide and a transmembrane domain, localized to the acrosomal membrane. It is involved in acrosome formation and sperm-egg fusion. The protein is testis-specific and essential for male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPACA1 Knockout HEK293 Cell Line | EDJ-KQ9752 | Human | 81833 | Details Get a Quote |
| SPACA1 Knockout HeLa Cell Line | EDJ-KQ57417 | Human | 81833 | Details Get a Quote |
| SPACA1 Knockout A-549 Cell Line | EDJ-KQ65923 | Human | 81833 | Details Get a Quote |
| SPACA1 Knockout HCT 116 Cell Line | EDJ-KQ74350 | Human | 81833 | Details Get a Quote |
