ZP3 zona pellucida glycoprotein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZP3provided by HGNC
Official Full Name: zona pellucida glycoprotein 3provided by HGNC
Primary source: HGNC:HGNC:13189
See related: Ensembl:ENSG00000188372 MIM:182889; AllianceGenome:HGNC:13189
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: ZPC; ZP3A; ZP3B; Zp-3; OOMD3; OZEMA3
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 is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a 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. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 5.0), skin (RPKM 3.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (76397522..76442069)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (77685187..77730456)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (76026839..76071386)

Chromosome 7 - NC_000007.14 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

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida.
Title: Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida.
Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility.
Title: Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility.
Novel mutations in ZP2 and ZP3 cause female infertility in three patients.
Title: Novel mutations in ZP2 and ZP3 cause female infertility in three patients.
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome.
Title: A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome.
Novel expression of zona pellucida 3 protein in normal testis; potential functional implications.
Title: Novel expression of zona pellucida 3 protein in normal testis; potential functional implications.
A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility.
Title: A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility.
A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation.
Title: A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation.
Zona Pellucida Proteins, Fibrils, and Matrix.
Title: Zona Pellucida Proteins, Fibrils, and Matrix.
Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human.
Title: Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human.
Mutations in ZP1, ZP2, and ZP3 might affect the corresponding protein expression, secretion, and interaction, thus providing a mechanistic explanation for the phenotypes for female infertility.
Title: Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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

Associated conditions

Description	Tests
Oocyte maturation defect 3 MedGen: C4540205 OMIM: 617712 GeneReviews: Not available	Compare labs

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

ZP3A (e-PCR)
- UniSTS:58634

D7S2875 (e-PCR)
- UniSTS:50957

D1S1423 (e-PCR)
- UniSTS:149619

D17S610 (e-PCR)
- UniSTS:46230

STS-U10099 (e-PCR)
- UniSTS:52146

STS-M60504 (e-PCR)
- UniSTS:9414

D7S2470 (e-PCR)
- UniSTS:42955

D7S2470 (e-PCR)
- UniSTS:6380

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 carbohydrate binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent	HDA 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 receptor ligand activity	ISS Inferred from Sequence or Structural Similarity more info
enables structural constituent of egg coat	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in binding of sperm to zona pellucida	IBA Inferred from Biological aspect of Ancestor more info
involved_in binding of sperm to zona pellucida	IDA Inferred from Direct Assay more info	PubMed
involved_in binding of sperm to zona pellucida	IGI Inferred from Genetic Interaction more info	PubMed
involved_in binding of sperm to zona pellucida	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blastocyst formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in egg coat formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in egg coat formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in humoral immune response mediated by circulating immunoglobulin	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of binding of sperm to zona pellucida	IDA Inferred from Direct Assay more info	PubMed
involved_in oocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of acrosomal vesicle exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of acrosomal vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of acrosome reaction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of acrosome reaction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of antral ovarian follicle growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of humoral immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-4 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of leukocyte migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ovarian follicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type II interferon production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type IV hypersensitivity	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in egg coat	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: zona pellucida sperm-binding protein 3

Names: ZP3A/ZP3B; sperm receptor; zona pellucida glycoprotein 3B; zona pellucida glycoprotein ZP3; zona pellucida protein C

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_033938.1 RefSeqGene

Range

32427..49546

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001110354.2 → NP_001103824.1 zona pellucida sperm-binding protein 3 isoform 1 precursor

See identical proteins and their annotated locations for NP_001103824.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC005522, BC113949, DB328313, M60504

Consensus CDS

CCDS47618.1

UniProtKB/Swiss-Prot

P21754, Q06633, Q29RW0

Related

ENSP00000378326.3, ENST00000394857.8

Conserved Domains (2) summary

smart00241
Location:45 → 303

ZP; Zona pellucida (ZP) domain

pfam00100
Location:187 → 301

Zona_pellucida; Zona pellucida-like domain
NM_007155.6 → NP_009086.4 zona pellucida sperm-binding protein 3 isoform 2

See identical proteins and their annotated locations for NP_009086.4

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' CDS compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.

Source sequence(s)

AC005522, AK292763, BC113949, DB328313

Consensus CDS

CCDS5586.1

UniProtKB/Swiss-Prot

P21754

Related

ENSP00000337310.4, ENST00000336517.8

Conserved Domains (2) summary

smart00241
Location:2 → 252

ZP; Zona pellucida (ZP) domain

pfam00100
Location:136 → 250

Zona_pellucida; Zona pellucida-like domain