SPAM1 Gene - Sperm Adhesion Molecule 1
A key hyaluronidase involved in sperm-egg interaction and fertilization.
Gene Information Card
| Symbol | SPAM1 |
|---|---|
| Full Name | Sperm Adhesion Molecule 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.32 |
| NCBI Gene ID | 6677 ncbi.nlm.nih.gov/gene/6677 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | P38567 |
| OMIM ID | 600644 |
| HGNC ID | 11218 |
| Aliases | PH-20, HYAL3, SPAG15 |
Description
SPAM1 (Sperm Adhesion Molecule 1) encodes a hyaluronidase enzyme that is expressed on the sperm surface and in the acrosome. It plays a critical role in sperm-egg adhesion and penetration by degrading hyaluronic acid in the cumulus oophorus and zona pellucida. The protein is also involved in cell signaling and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Loss of SPAM1 function impairs sperm penetration through the cumulus matrix, reducing fertilization capacity. | ClinVar, OMIM |
| Asthenozoospermia | Reduced SPAM1 expression or activity correlates with decreased sperm motility. | NCBI Gene, PubMed |
| Endometriosis | Altered SPAM1 expression in endometrial tissue may affect implantation. | UniProt, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Epididymis | 12.8 | Medium |
| Prostate | 3.1 | Low |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | 120.0 | High expression on sperm surface |
| HeLa | 0.2 | Very low expression |
| HEK293 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.422G>A (p.Arg141His) | Missense | Rare | Reduced hyaluronidase activity |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function, truncated protein |
| c.1576_1577del (p.Leu526Valfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that truncate or disrupt the catalytic domain (e.g., p.Arg349*, p.Leu526Valfs*2) impair hyaluronidase activity and sperm-egg penetration.
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)
Pathways
• Hyaluronan degradation (Reactome: R-HSA-2160916)
• Sperm-egg interaction (Reactome: R-HSA-1187000)
Protein Summary
SPAM1 is a 509-amino acid glycosylphosphatidylinositol (GPI)-anchored hyaluronidase. It consists of an N-terminal catalytic domain and a C-terminal domain involved in membrane anchoring. The protein is essential for sperm penetration through the cumulus oophorus and is also implicated in cell adhesion and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPAM1 Knockout HEK293 Cell Line | EDJ-KQ15429 | Human | 6677 | Details Get a Quote |
| SPAM1 Knockout HeLa Cell Line | EDJ-KQ54543 | Human | 6677 | Details Get a Quote |
| SPAM1 Knockout A-549 Cell Line | EDJ-KQ63027 | Human | 6677 | Details Get a Quote |
| SPAM1 Knockout HCT 116 Cell Line | EDJ-KQ71503 | Human | 6677 | Details Get a Quote |
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