ZP1 Gene - Zona Pellucida Glycoprotein 1
Essential for oocyte extracellular matrix formation and female fertility
Gene Information Card
| Symbol | ZP1 |
|---|---|
| Full Name | Zona Pellucida Glycoprotein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 22917 ncbi.nlm.nih.gov/gene/22917 |
| Ensembl ID | ENSG00000149506 |
| UniProt ID | P60852 |
| OMIM ID | 195000 |
| HGNC ID | 13187 |
| Aliases | ZP-1, ZPB, OOMD1 |
Description
ZP1 encodes a glycoprotein that is a major component of the zona pellucida, the extracellular matrix surrounding the oocyte. This protein is essential for oocyte growth, fertilization, and early embryonic development. It forms a filamentous matrix with ZP2, ZP3, and ZP4, providing structural integrity and species-specific sperm binding. Mutations in ZP1 are associated with female infertility due to abnormal zona pellucida formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility due to zona pellucida defect | Loss-of-function mutations in ZP1 disrupt zona pellucida assembly, leading to empty follicle syndrome or abnormal oocyte morphology | ClinVar, OMIM |
| Oocyte maturation defect | ZP1 deficiency impairs oocyte-cumulus cell interaction and meiotic progression | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | High |
| Testis | 0.8 | Low |
| Fallopian tube | 0.5 | Low |
| Uterus | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| KGN (ovarian granulosa-like) | 8.2 | Ovarian cell line |
| HeLa | 0.1 | Cervical carcinoma |
| HEK293 | 0.0 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130C>T (p.Arg44Ter) | Nonsense | Rare | Premature stop, loss of protein function |
| c.223G>A (p.Gly75Arg) | Missense | Rare | Impaired secretion and matrix assembly |
| c.1066C>T (p.Arg356Ter) | Nonsense | Rare | Truncated protein, no functional zona pellucida |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent ZP1 protein, causing defective zona pellucida and infertility.
Gain of Function (GOF)
Not reported for ZP1.
Dominant Negative (DN)
Heterozygous missense mutations may interfere with wild-type ZP1 incorporation into the zona pellucida matrix.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • zona pellucida |
| • oocyte development | • fertilization |
| • sperm-egg recognition | • extracellular region |
Pathways
• Zona pellucida formation
• Oocyte maturation
• Fertilization
Protein Summary
ZP1 is a 638-amino-acid glycoprotein with a signal peptide, a zona pellucida domain (ZP domain), and a C-terminal transmembrane domain. It is synthesized in oocytes and secreted to form the outer layer of the zona pellucida. The protein polymerizes with ZP2, ZP3, and ZP4 to create a porous matrix that supports oocyte integrity and mediates sperm binding. Post-translational glycosylation is critical for its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LUZP1 Knockout HEK293 Cell Line | EDJ-KQ5418 | Human | 7798 | Details Get a Quote |
| ZP1 Knockout HEK293 Cell Line | EDJ-KQ7747 | Human | 22917 | Details Get a Quote |
| LUZP1 Knockout A-549 Cell Line | EDJ-KQ29884 | Human | 7798 | Details Get a Quote |
| LUZP1 Knockout HCT 116 Cell Line | EDJ-KQ29886 | Human | 7798 | Details Get a Quote |
| LUZP1 Knockout HeLa Cell Line | EDJ-KQ29887 | Human | 7798 | Details Get a Quote |
| ZP1 Knockout HeLa Cell Line | EDJ-KQ55656 | Human | 22917 | Details Get a Quote |
| ZP1 Knockout A-549 Cell Line | EDJ-KQ64155 | Human | 22917 | Details Get a Quote |
| ZP1 Knockout HCT 116 Cell Line | EDJ-KQ72601 | Human | 22917 | Details Get a Quote |
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