SPACA3: Sperm Acrosome Associated 3
A key protein in sperm-egg fusion and male fertility
Gene Information Card
| Symbol | SPACA3 |
|---|---|
| Full Name | Sperm Acrosome Associated 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 124912 ncbi.nlm.nih.gov/gene/124912 |
| Ensembl ID | ENSG00000141316 |
| UniProt ID | Q8IXR5 |
| OMIM ID | 609511 |
| HGNC ID | 24018 |
| Aliases | SAMP32, SPACA3, SPACA3_HUMAN |
Description
SPACA3 (Sperm Acrosome Associated 3) encodes a protein localized to the sperm acrosome membrane. It is involved in sperm-egg fusion during fertilization. The protein contains a transmembrane domain and is expressed specifically in testis. SPACA3 is essential for male fertility, as demonstrated by knockout mouse models showing impaired sperm-egg fusion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (sperm-egg fusion defect) | Loss of SPACA3 function disrupts acrosome reaction and fusion with oocyte | Mouse knockout studies (NCBI Gene, OMIM 609511) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression 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 | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42Cys) | Missense | Rare | Potential structural change, unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations causing premature stop or start loss likely abolish protein function, leading to infertility.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • single fertilization (GO:0007339) | • acrosome reaction (GO:0007340) |
| • integral component of membrane (GO:0016021) | • acrosomal vesicle (GO:0030141) |
| • identical protein binding (GO:0042802) |
Pathways
• Sperm-egg fusion pathway (Reactome: R-HSA-1187000)
Protein Summary
SPACA3 is a 32 kDa transmembrane protein (SAMP32) localized to the inner acrosomal membrane of sperm. It is essential for sperm-egg fusion; knockout mice are infertile. The protein interacts with other acrosomal proteins and may mediate membrane fusion events. UniProt ID: Q8IXR5.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPACA3 Knockout HEK293 Cell Line | EDJ-KQ8655 | Human | 124912 | Details Get a Quote |
| SPACA3 Knockout HeLa Cell Line | EDJ-KQ58144 | Human | 124912 | Details Get a Quote |
| SPACA3 Knockout A-549 Cell Line | EDJ-KQ66629 | Human | 124912 | Details Get a Quote |
| SPACA3 Knockout HCT 116 Cell Line | EDJ-KQ75047 | Human | 124912 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
