ZP4 zona pellucida glycoprotein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZP4provided by HGNC
Official Full Name: zona pellucida glycoprotein 4provided by HGNC
Primary source: HGNC:HGNC:15770
See related: Ensembl:ENSG00000116996 MIM:613514; AllianceGenome:HGNC:15770
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZBP; ZP1; ZPB; ZP1B; ZPB2; Zp-4
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 nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. Previously, this gene has been referred to as ZP1 or ZPB and thought to have similar functions as mouse Zp1. However, a human gene with higher similarity and chromosomal synteny to mouse Zp1 has been assigned the symbol ZP1 and this gene has been assigned the symbol ZP4. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 1q43

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (237882404..237890922, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (237293715..237302152, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (238045704..238054222, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in ZP4 are associated with abnormal zona pellucida and female infertility.
Title: Mutations in ZP4 are associated with abnormal zona pellucida and female infertility.
Zona Pellucida Proteins, Fibrils, and Matrix.
Title: Zona Pellucida Proteins, Fibrils, and Matrix.
ZP4 gene SNPs rs547984, rs540782, rs693421, rs2499601 are not associated with open-angle glaucoma among ethnic Hans from Sichuan.
Title: [Association of ZP4 gene polymorphism with primary open-angle glaucoma in an ethnic Chinese population from Sichuan province].
ZO4 is highly expressed in ovarian tissue in PCOS patients with regular cycle and without hyperandrogenism; in some patients with PCOS and infertility, ZP4 mutation can be found.
Title: Study on the zona pellucida 4 (ZP4) gene sequence and its expression in the ovaries of patients with polycystic ovary syndrome.
Human ZP4 is not sufficient to support human sperm binding to the zona pellucida in transgenic mice; other zona proteins may be needed for human gamete recognition.
Title: Human ZP4 is not sufficient for taxon-specific sperm recognition of the zona pellucida in transgenic mice.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population.
a significant decrease in acrosomal exocytosis mediated by both recombinant human ZP3 (p<0.005) and ZP4 (p<0.005) was observed in presence of the immune sera
Title: DNA vaccine encoding chimeric protein encompassing epitopes of human ZP3 and ZP4: immunogenicity and characterization of antibodies.
induces acrosome reactions which are protein kinase-C, protein tyrosine kinase, T-type Ca2+ channels, and extracellular Ca2+ dependent
Title: Effects of native human zona pellucida glycoproteins 3 and 4 on acrosome reaction and zona pellucida binding of human spermatozoa.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481185

SHGC-76534 (e-PCR)
- UniSTS:37109

SHGC-76577 (e-PCR)
- UniSTS:23287

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acrosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables acrosin binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of egg coat	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of egg coat	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in acrosomal vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in binding of sperm to zona pellucida	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of binding of sperm to zona pellucida	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of acrosome reaction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of humoral immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in prevention of polyspermy	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in egg coat	IBA Inferred from Biological aspect of Ancestor more info
located_in egg coat	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zona pellucida sperm-binding protein 4

Names: zona pellucida protein B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046920.1 RefSeqGene

Range

5001..13519

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021186.5 → NP_067009.1 zona pellucida sperm-binding protein 4 preproprotein

See identical proteins and their annotated locations for NP_067009.1

Status: REVIEWED

Source sequence(s)

AK314151, DV080723

Consensus CDS

CCDS1615.1

UniProtKB/Swiss-Prot

B2RAE1, Q12836

Related

ENSP00000355529.4, ENST00000366570.5

Conserved Domains (3) summary

smart00018
Location:141 → 185

PD; P or trefoil or TFF domain

smart00241
Location:188 → 460

ZP; Zona pellucida (ZP) domain

pfam00100
Location:322 → 460

Zona_pellucida; Zona pellucida-like domain