ZP1 (zona pellucida glycoprotein 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22917
Gene name Gene Name - the full gene name approved by the HGNC.
Zona pellucida glycoprotein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZP1
Synonyms (NCBI Gene) Gene synonyms aliases
HEL163, OOMD, OOMD1, OZEMA1, ZPB1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
195000 13187 ENSG00000149506
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Female infertility female infertility due to zona pellucida defect rs1590594990, rs1307369466, rs1590594352, rs587777362, rs763617076 N/A
Oocyte Maturation Defect oocyte maturation defect 3 rs769509601 N/A
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease 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