ZP1 (zona pellucida glycoprotein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 22917
Gene name Zona pellucida glycoprotein 1
Gene symbol ZP1
Synonyms (NCBI Gene)
HEL163OOMDOOMD1OZEMA1ZPB1
Chromosome 11
Chromosome location 11q12.2
Summary The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene
SNPs SNP information provided by dbSNP.
4
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs587777362 TTTTCCCA>- Pathogenic Coding sequence variant, frameshift variant
rs763617076 G>A Pathogenic Missense variant, coding sequence variant
rs1307369466 T>C Pathogenic Intron variant
rs1590594990 G>T Pathogenic Splice donor variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28886344
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005886 Component Plasma membrane IEA
GO:0007338 Process Single fertilization IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
195000 13187 ENSG00000149506
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P60852
Protein name Zona pellucida sperm-binding protein 1 (Zona pellucida glycoprotein 1) (Zp-1) [Cleaved into: Processed zona pellucida sperm-binding protein 1]
Protein function Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00100 Zona_pellucida 280 → 547 Zona pellucida-like domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in oocytes (at protein level). {ECO:0000269|PubMed:29895852}.
Sequence 
MAGGSATTWGYPVALLLLVATLGLGRWLQPDPGLPGLRHSYDCGIKGMQLLVFPRPGQTL
RFKVVDEFGNRFDVNNCSICYHWVTSRPQEPAVFSADYRGCHVLEKDGRFHLRVFMEAVL
PNGRVDVAQDATLICPKPDPSRTLDSQLAPPAMFSVSTPQTLSFLPTSGHTSQGSGHAFP
SPLDPGHSSVHPTPALPSPGPGPTLATLAQPHWGTLEHWDVNKRDYIGTHLSQEQCQVAS
GHLPCIVRRTSKEACQQAGCCYDNTREVPCYYGNTATVQCFRDGYFVLVVSQEMALTHRI
TLANIHLAYAPTSCSPTQHTEAFVVFYFPLTHCGTTMQVAGDQLIYENWLVSGIHIQKGP
QGSITRDSTFQLHVRCVFNASDFLPIQASIFPPPSPAPMTQPGPLRLELRIAKDETFSSY
YGEDDYPIVRLLREPVHVEVRLLQRTDPNLVLLLHQCWGAPSANPFQQPQWPILSDGCPF
KGDSYRTQMVALDGATPFQSHYQRFTVATFALLDSGSQRALRGLVYLFCSTSACHTSGLE
TCSTACSTGTTRQRRSSGHRNDTARPQDIVSSPGPVGFEDSYGQEPTLGPTDSNGNSSLR
PLLWAVLLLPAVALVLGFGVFVGLSQTWAQKLWESNRQ
Sequence length 638
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Interaction With Cumulus Cells And The Zona Pellucida
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Female infertility due to zona pellucida defect Pathogenic; Likely pathogenic rs587777362, rs763617076, rs1590594990, rs1307369466, rs1590594352 RCV000115029
RCV000850118
RCV000850119
RCV000850120
RCV001250894
Oocyte maturation defect 3 Pathogenic rs769509601 RCV001095369
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ZP1-related disorder Benign; Likely benign rs145707301, rs143715728, rs115721019 RCV003919100
RCV003977063
RCV003962900
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 27768594
Empty Sella Syndrome Associate 30778819, 32329253, 32556881, 32573113, 36931917, 40287760
Herpes Zoster Associate 32573113, 36931917
Infertility Associate 24670168, 32573113, 40287760
Infertility Female Associate 32329253, 32573113, 36931917