SPACA4: Sperm Acrosome Associated 4
A testis-specific gene encoding a protein involved in sperm-egg fusion and acrosome reaction.
Gene Information Card
| Symbol | SPACA4 |
|---|---|
| Full Name | Sperm Acrosome Associated 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 171169 ncbi.nlm.nih.gov/gene/171169 |
| Ensembl ID | ENSG00000167552 |
| UniProt ID | Q9BXS6 |
| OMIM ID | 608352 |
| HGNC ID | 24023 |
| Aliases | SAMP14, SPACA4A |
Description
SPACA4 (Sperm Acrosome Associated 4) is a protein-coding gene located on chromosome 19q13.33. It encodes a testis-specific protein that is localized to the sperm acrosome and is implicated in the acrosome reaction and sperm-egg fusion. The protein contains a Ly-6/uPAR domain and is anchored to the membrane via a glycosylphosphatidylinositol (GPI) anchor. SPACA4 is essential for male fertility, as knockout models show impaired fertilization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss of SPACA4 function disrupts acrosome reaction and sperm-egg fusion, leading to fertilization defects. | Mouse knockout models (NCBI Gene, OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | 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 (ejaculated) | N/A | High expression; localized to acrosome (UniProt) |
| Testicular germ cells | N/A | Expressed in spermatids (NCBI Gene) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon; predicted loss of function (ClinVar) |
| c.124C>T (p.Arg42Cys) | Missense | Rare | May affect protein folding; uncertain significance (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss) are associated with impaired acrosome reaction and male infertility in model organisms.
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)
| • single fertilization (GO:0007339) | • acrosome reaction (GO:0007340) |
| • plasma membrane (GO:0005886) | • anchored component of plasma membrane (GO:0046658) |
| • protein binding (GO:0005515) |
Pathways
• Fertilization (Reactome: R-HSA-1187000)
Protein Summary
SPACA4 is a 14.5 kDa GPI-anchored protein expressed exclusively in the testis, specifically on the sperm acrosomal membrane. It contains a Ly-6/uPAR domain and is involved in the acrosome reaction and sperm-egg fusion. The protein is essential for male fertility; disruption leads to fertilization failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPACA4 Knockout HEK293 Cell Line | EDJ-KQ7441 | Human | 171169 | Details Get a Quote |
| SPACA4 Knockout HeLa Cell Line | EDJ-KQ58952 | Human | 171169 | Details Get a Quote |
| SPACA4 Knockout A-549 Cell Line | EDJ-KQ67439 | Human | 171169 | Details Get a Quote |
| SPACA4 Knockout HCT 116 Cell Line | EDJ-KQ75835 | Human | 171169 | Details Get a Quote |
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