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 ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and i... See more...

Aliases for ZP1 Gene

Aliases for ZP1 Gene

  • Zona Pellucida Glycoprotein 1 2 3 4 5
  • Zona Pellucida Glycoprotein 1 (Sperm Receptor) 2 3
  • Zona Pellucida Sperm-Binding Protein 1 3 4
  • Epididymis Luminal Protein 163 3
  • HEL163 3
  • OOMD1 3
  • OOMD 3
  • Zp-1 4
  • ZP1 5

External Ids for ZP1 Gene

Previous GeneCards Identifiers for ZP1 Gene

  • GC11U990202
  • GC11P060393
  • GC11P060635
  • GC11P056981

Summaries for ZP1 Gene

Entrez Gene Summary for ZP1 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 ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]

GeneCards Summary for ZP1 Gene

ZP1 (Zona Pellucida Glycoprotein 1) is a Protein Coding gene. Diseases associated with ZP1 include Oocyte Maturation Defect 1 and Female Infertility Due To Zona Pellucida Defect. Among its related pathways are Reproduction. An important paralog of this gene is ZP4.

UniProtKB/Swiss-Prot Summary for ZP1 Gene

  • 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, ZP2, ZP3, and ZP4. ZP1 ensures the structural integrity of the zona pellucida.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZP1 Gene

Genomics for ZP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J060867 Enhancer 0.2 Ensembl 250.7 0.0 -42 1 HSALNG0084477 ZP1 PTGDR2
GH11J060774 Enhancer 1 Ensembl ENCODE 10.7 -91.1 -91131 3.6 BCLAF1 ZNF654 ZIC2 CTCF CEBPB REST TRIM22 MAX SIN3A ZNF217 ENSG00000255959 CCDC86 ENSG00000255845 MS4A8 ZP1 MS4A18 ENSG00000257052 PRPF19 CD6 MS4A10
GH11J061539 Enhancer 1.5 VISTA Ensembl ENCODE CraniofacialAtlas dbSUPER 4.9 +675.1 675059 9.6 IKZF1 CEBPA NFIC CHD4 YY1 REST CEBPB CTCF ZNF217 HCFC1 ENSG00000256443 LRRC10B SYT7 DDB1 TKFC ZP1 HSALNG0084540 lnc-CPSF7-4 lnc-CPSF7-5
GH11J060904 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 +38.4 38423 3.3 ZNF207 MYC IKZF1 SIX5 ATF2 POLR2A BRCA1 ZIC2 YY1 MXD4 PRPF19 ENSG00000257052 PRPF19-DT lnc-SLC15A3-5 piR-55216 TMEM109 PTGDR2 lnc-SLC15A3-6 ZP1
GH11J060864 Enhancer 0.8 Ensembl 0.7 -3.6 -3641 0.6 NCOR1 IKZF1 NFIC ARNT NBN RELA SKIL ZFP91 TAL1 STAT5A CCDC86 ZP1 PTGDR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZP1

Top Transcription factor binding sites by QIAGEN in the ZP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • GATA-1
  • GATA-2
  • GATA-3

Genomic Locations for ZP1 Gene

Latest Assembly
chr11:60,867,542-60,875,693
(GRCh38/hg38)
Size:
8,152 bases
Orientation:
Plus strand

Previous Assembly
chr11:60,635,015-60,643,160
(GRCh37/hg19 by Entrez Gene)
Size:
8,146 bases
Orientation:
Plus strand

chr11:60,635,035-60,643,166
(GRCh37/hg19 by Ensembl)
Size:
8,132 bases
Orientation:
Plus strand

Genomic View for ZP1 Gene

Genes around ZP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZP1 Gene

Proteins for ZP1 Gene

  • Protein details for ZP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60852-ZP1_HUMAN
    Recommended name:
    Zona pellucida sperm-binding protein 1
    Protein Accession:
    P60852

    Protein attributes for ZP1 Gene

    Size:
    638 amino acids
    Molecular mass:
    70049 Da
    Quaternary structure:
    • Polymers of ZP2 and ZP3 organized into long filaments cross-linked by ZP1 homodimers (By similarity). Interacts with ZP3 (PubMed:28886344).

neXtProt entry for ZP1 Gene

Post-translational modifications for ZP1 Gene

  • Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida.
  • O-glycosylated.
  • Glycosylation at Asn76, Asn379, Asn561, and Asn596
  • Modification sites at PhosphoSitePlus

Other Protein References for ZP1 Gene

Antibodies for research

  • Abcam antibodies for ZP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for ZP1

No data available for DME Specific Peptides for ZP1 Gene

Domains & Families for ZP1 Gene

Gene Families for ZP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ZP1 Gene

InterPro:
Blocks:
  • P-type trefoil domain

Suggested Antigen Peptide Sequences for ZP1 Gene

GenScript: Design optimal peptide antigens:
  • ZP1 protein (Q6NVU7_HUMAN)
  • Zona pellucida glycoprotein 1 (ZP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60852

UniProtKB/Swiss-Prot:

ZP1_HUMAN :
  • The ZP domain is involved in the polymerization of the ZP proteins to form the zona pellucida.
Domain:
  • The ZP domain is involved in the polymerization of the ZP proteins to form the zona pellucida.
  • Belongs to the ZP domain family. ZPB subfamily.
genes like me logo Genes that share domains with ZP1: view

Function for ZP1 Gene

Molecular function for ZP1 Gene

UniProtKB/Swiss-Prot 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, ZP2, ZP3, and ZP4. ZP1 ensures the structural integrity of the zona pellucida.
GENATLAS Biochemistry:
zona pellucida glycoprotein 1,sperm receptor,ortholog of the mouse Zp1 gene

Phenotypes From GWAS Catalog for ZP1 Gene

Gene Ontology (GO) - Molecular Function for ZP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28886344
genes like me logo Genes that share ontologies with ZP1: view
genes like me logo Genes that share phenotypes with ZP1: view

Human Phenotype Ontology for ZP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZP1 Gene

MGI Knock Outs for ZP1:
  • Zp1 Zp1<tm1Dean>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZP1

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for ZP1 Gene

Localization for ZP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZP1 Gene

[Processed zona pellucida sperm-binding protein 1]: Secreted, extracellular space, extracellular matrix. Note=Located in oocyte zona pellucida. {ECO:0000269 PubMed:29895852}.
Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZP1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
nucleus 1
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for ZP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035805 egg coat IDA 29895852
genes like me logo Genes that share ontologies with ZP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZP1 Gene

Pathways & Interactions for ZP1 Gene

PathCards logo

SuperPathways for ZP1 Gene

SuperPathway Contained pathways
1 Reproduction
genes like me logo Genes that share pathways with ZP1: view

Pathways by source for ZP1 Gene

Interacting Proteins for ZP1 Gene

Gene Ontology (GO) - Biological Process for ZP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007338 single fertilization IEA --
GO:0007339 binding of sperm to zona pellucida TAS --
genes like me logo Genes that share ontologies with ZP1: view

No data available for SIGNOR curated interactions for ZP1 Gene

Drugs & Compounds for ZP1 Gene

No Compound Related Data Available

Transcripts for ZP1 Gene

mRNA/cDNA for ZP1 Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZP1

Alternative Splicing Database (ASD) splice patterns (SP) for ZP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8
SP1: -
SP2:
SP3: - - -
SP4:

Relevant External Links for ZP1 Gene

GeneLoc Exon Structure for
ZP1

Expression for ZP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZP1 Gene

This gene is overexpressed in Pituitary (x23.3) and Testis (x7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZP1

SOURCE GeneReport for Unigene cluster for ZP1 Gene:

Hs.172130

mRNA Expression by UniProt/SwissProt for ZP1 Gene:

P60852-ZP1_HUMAN
Tissue specificity: Expressed in oocytes (at protein level).

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZP1 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Regions:
Pelvis:
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with ZP1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for ZP1 Gene

Orthologs for ZP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZP1 29 30
  • 99.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zp1 29
  • 76.09 (n)
Mouse
(Mus musculus)
Mammalia Zp1 29 16 30
  • 75.41 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZP1 30
  • 51 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZP1 30
  • 42 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZP1 29 30
  • 64.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZP1 30
  • 27 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii zp2l1 30
  • 35 (a)
ManyToMany
zp2.5 30
  • 31 (a)
ManyToMany
zp2.2 30
  • 31 (a)
ManyToMany
zp2l2 30
  • 31 (a)
ManyToMany
zp2.1 30
  • 30 (a)
ManyToMany
zp2.6 30
  • 30 (a)
ManyToMany
si:zfos-1505d6.3 30
  • 30 (a)
ManyToMany
zp2.3 30
  • 30 (a)
ManyToMany
CABZ01074647.1 30
  • 24 (a)
ManyToMany
CABZ01051901.1 30
  • 11 (a)
ManyToMany
Species where no ortholog for ZP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ZP1 Gene

ENSEMBL:
Gene Tree for ZP1 (if available)
TreeFam:
Gene Tree for ZP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZP1: view image
Alliance of Genome Resources:
Additional Orthologs for ZP1

Paralogs for ZP1 Gene

Paralogs for ZP1 Gene

(2) SIMAP similar genes for ZP1 Gene using alignment to 3 proteins:

  • ZP1_HUMAN
  • H0YG11_HUMAN
  • Q6NVU7_HUMAN
genes like me logo Genes that share paralogs with ZP1: view

Variants for ZP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZP1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1033696 Pathogenic: Oocyte maturation defect 1 60,873,468(+) GGACA/G
NM_207341.4(ZP1):c.1338_1341del (p.Asp447fs)
FRAMESHIFT
1033697 Pathogenic: Oocyte maturation defect 1 60,875,128(+) G/T
NM_207341.4(ZP1):c.1655-1G>T
SPLICE_ACCEPTOR
695115 Pathogenic: Oocyte maturation defect 3 60,870,418(+) C/T
NM_207341.3(ZP1):c.769C>T (p.Gln257Ter)
NONSENSE
812693 Likely Pathogenic: Oocyte maturation defect 1 60,873,216(+) CA/C
NM_207341.3(ZP1):c.1168del (p.Ile390fs)
FRAMESHIFT
rs112864814 Benign: not provided 60,875,160(+) C/T
NM_207341.3(ZP1):c.1686C>T (p.Asp562=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ZP1 Gene

Variant ID Type Subtype PubMed ID
esv3442671 CNV duplication 20981092

Variation tolerance for ZP1 Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZP1 Gene

Human Gene Mutation Database (HGMD)
ZP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZP1
Leiden Open Variation Database (LOVD)
ZP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZP1 Gene

Disorders for ZP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ZP1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ZP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ZP1_HUMAN
  • Oocyte maturation defect 1 (OOMD1) [MIM:615774]: An infertility disorder caused by defective oocyte maturation that results in abnormal eggs lacking a zona pellucida. Affected females have normal menstrual cycles and sex hormone levels, no obstruction in the fallopian tubes or abnormalities of the uterus or adnexa. {ECO:0000269 PubMed:24670168}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ZP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ZP1: view

No data available for Genatlas for ZP1 Gene

Publications for ZP1 Gene

  1. Identification of the true human orthologue of the mouse Zp1 gene: evidence for greater complexity in the mammalian zona pellucida? (PMID: 10542331) Hughes DC … Barratt CL (Biochimica et biophysica acta 1999) 2 3 4 22
  2. Mutant ZP1 in familial infertility. (PMID: 24670168) Huang HL … Xiao HM (The New England journal of medicine 2014) 3 4 72
  3. ZP2 pathogenic variants cause in vitro fertilization failure and female infertility. (PMID: 29895852) Dai C … Lin G (Genetics in medicine : official journal of the American College of Medical Genetics 2019) 3 4
  4. Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation. (PMID: 30810869) Zhou Z … Wang L (Human genetics 2019) 3 72
  5. A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. (PMID: 28886344) Chen T … Chen ZJ (American journal of human genetics 2017) 3 4

Products for ZP1 Gene

Sources for ZP1 Gene