SPACA6: Sperm Acrosome Associated 6
A key player in sperm-egg fusion and male fertility
Gene Information Card
| Symbol | SPACA6 |
|---|---|
| Full Name | Sperm Acrosome Associated 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104973 |
| UniProt ID | Q9BXN1 |
| OMIM ID | 609912 |
| HGNC ID | 11223 |
| Aliases | SPACA6, FLJ20489, MGC138290 |
Description
SPACA6 (Sperm Acrosome Associated 6) is a protein-coding gene located on chromosome 19q13.42. It encodes a sperm-specific protein localized to the acrosome, essential for sperm-egg fusion during fertilization. The protein is a single-pass type I membrane protein with a conserved domain of unknown function (DUF). SPACA6 is critical for male fertility, as knockout models show complete infertility due to failure in sperm-egg fusion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (sperm-egg fusion defect) | Loss of SPACA6 function prevents sperm-egg fusion | Mouse knockout models (NCBI Gene, OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not expressed (nTPM data not available for SPACA6 in GTEx; testis-specific expression confirmed by RNA-seq) |
| Other tissues | 0.0 | Not expressed |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | Expressed in acrosome; no nTPM data available |
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 function; associated with male infertility (ClinVar) |
| c.202C>T (p.Arg68*) | Nonsense | Rare | Loss of function; predicted to cause premature truncation (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (nonsense, frameshift) cause infertility due to failure in sperm-egg fusion.
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) | • integral component of membrane (GO:0016021) |
Pathways
• Fertilization pathway (Reactome: R-HSA-1187000)
Protein Summary
SPACA6 is a 248-amino acid single-pass type I membrane protein with a signal peptide (1-22) and a conserved DUF domain. It is expressed exclusively in the sperm acrosome and is essential for sperm-egg fusion. The protein undergoes post-translational modifications including glycosylation. Its precise molecular mechanism involves interaction with egg membrane proteins to facilitate fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPACA6 Knockout HEK293 Cell Line | EDJ-KQ10635 | Human | 147650 | Details Get a Quote |
| SPACA6 Knockout A-549 Cell Line | EDJ-KQ38139 | Human | 147650 | Details Get a Quote |
| SPACA6 Knockout HCT 116 Cell Line | EDJ-KQ38140 | Human | 147650 | Details Get a Quote |
| SPACA6 Knockout HeLa Cell Line | EDJ-KQ38141 | Human | 147650 | Details Get a Quote |
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