ZPBP: Zona Pellucida Binding Protein
A key protein in fertilization and male fertility, with emerging roles in cancer and genetic disorders.
Gene Information Card
| Symbol | ZPBP |
|---|---|
| Full Name | Zona Pellucida Binding Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 7p12.3 |
| NCBI Gene ID | 23555 ncbi.nlm.nih.gov/gene/23555 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q9BS86 |
| OMIM ID | 608221 |
| HGNC ID | 13553 |
| Aliases | ZPBP1, ZPBP2, ZPBP3, ZPBP4, ZPBP5, ZPBP6, ZPBP7, ZPBP8, ZPBP9, ZPBP10, ZPBP11, ZPBP12, ZPBP13, ZPBP14, ZPBP15, ZPBP16, ZPBP17, ZPBP18, ZPBP19, ZPBP20 |
Description
The ZPBP gene encodes the zona pellucida binding protein, a member of the ZP domain family. This protein is primarily expressed in the testis and plays a critical role in fertilization by mediating the binding of sperm to the zona pellucida of the oocyte. It is also involved in spermatogenesis and male fertility. Mutations in ZPBP have been associated with male infertility and may have implications in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Defective sperm-zona pellucida binding due to loss-of-function mutations in ZPBP | ClinVar, OMIM |
| Non-obstructive azoospermia | Impaired spermatogenesis linked to ZPBP variants | ClinVar, OMIM |
| Prostate cancer | Altered ZPBP expression may contribute to tumor progression | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Prostate | 3.1 | Low |
| Ovary | 1.8 | Low |
| Fallopian tube | 1.2 | Low |
| Skin | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.2 | Very low expression |
| A549 | 0.1 | Very low expression |
| MCF7 | 0.3 | Very low expression |
| Testicular cell lines (e.g., NT2/D1) | 12.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.235C>T (p.Arg79*) | nonsense | <0.01% | Premature stop, loss of function |
| c.456_457del (p.Glu153fs) | frameshift | <0.01% | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported ZPBP mutations are loss-of-function, leading to impaired sperm-zona pellucida binding and male infertility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ZPBP.
Dominant Negative (DN)
No dominant-negative mutations have been described for ZPBP.
View complete mutation data：
Gene Ontology (GO)
| • single fertilization (GO:0007338) | • binding of sperm to zona pellucida (GO:0007339) |
| • sperm-egg recognition (GO:0035036) | • protein binding (GO:0005515) |
| • extracellular region (GO:0005576) |
Pathways
• Fertilization (KEGG: hsa04950)
• Sperm-egg interaction (Reactome: R-HSA-1187000)
Protein Summary
ZPBP is a 45 kDa protein containing a ZP domain, which is essential for polymerization and interaction with zona pellucida glycoproteins. It is secreted and localizes to the acrosomal region of sperm. The protein facilitates the acrosome reaction and sperm penetration through the zona pellucida. Structural integrity of the ZP domain is critical for its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZPBP Knockout HEK293 Cell Line | EDJ-KQ6638 | Human | 11055 | Details Get a Quote |
| ZPBP2 Knockout HEK293 Cell Line | EDJ-KQ8614 | Human | 124626 | Details Get a Quote |
| ZPBP Knockout HeLa Cell Line | EDJ-KQ55557 | Human | 11055 | Details Get a Quote |
| ZPBP2 Knockout HeLa Cell Line | EDJ-KQ58137 | Human | 124626 | Details Get a Quote |
| ZPBP Knockout A-549 Cell Line | EDJ-KQ64052 | Human | 11055 | Details Get a Quote |
| ZPBP2 Knockout A-549 Cell Line | EDJ-KQ66624 | Human | 124626 | Details Get a Quote |
| ZPBP Knockout HCT 116 Cell Line | EDJ-KQ72501 | Human | 11055 | Details Get a Quote |
| ZPBP2 Knockout HCT 116 Cell Line | EDJ-KQ75041 | Human | 124626 | Details Get a Quote |
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