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ZP1 zona pellucida glycoprotein 1 [ Homo sapiens (human) ]

Gene ID: 22917, updated on 3-Apr-2024

Summary

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Official Symbol
ZP1provided by HGNC
Official Full Name
zona pellucida glycoprotein 1provided by HGNC
Primary source
HGNC:HGNC:13187
See related
Ensembl:ENSG00000149506 MIM:195000; AllianceGenome:HGNC:13187
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
OOMD; ZPB1; OOMD1; HEL163; OZEMA1
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 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]
Expression
Biased expression in testis (RPKM 1.8), fat (RPKM 0.3) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
11q12.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60867542..60875687)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60818698..60826844)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60635015..60643160)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369322 Neighboring gene membrane spanning 4-domains A10 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:60582445-60583180 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:60608676-60609875 Neighboring gene CCDC86 antisense RNA 1 Neighboring gene coiled-coil domain containing 86 Neighboring gene prostaglandin D2 receptor 2 Neighboring gene Sharpr-MPRA regulatory region 12454 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:60666609-60667134 Neighboring gene pre-mRNA processing factor 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:60673689-60674276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4783 Neighboring gene PRPF19 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome. Zou T, et al. Reprod Sci, 2022 Dec. PMID 35773450
  2. A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females. Loeuillet C, et al. Clin Genet, 2022 Jul. PMID 35460069, Free PMC Article
  3. A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome. Wang J, et al. J Assist Reprod Genet, 2021 Jun. PMID 33665726, Free PMC Article
  4. Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women. Wu L, et al. Clin Genet, 2021 Apr. PMID 33423275
  5. Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome. Liu M, et al. J Assist Reprod Genet, 2020 Sep. PMID 32556881, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome.
    Title: A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome.
  3. A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
    Title: A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
  4. Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women.
    Title: Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women.
  5. A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.
    Title: A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.
  6. Novel ZP1 pathogenic variants identified in an infertile patient and a successful live birth following ICSI treatment.
    Title: Novel ZP1 pathogenic variants identified in an infertile patient and a successful live birth following ICSI treatment.
  7. Zona Pellucida Proteins, Fibrils, and Matrix.
    Title: Zona Pellucida Proteins, Fibrils, and Matrix.
  8. Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.
    Title: Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.
  9. Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome.
    Title: Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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
Female infertility due to zona pellucida defect
MedGen: C4014291 OMIM: 615774 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC87693

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acrosin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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 binding of sperm to zona pellucida IBA
Inferred from Biological aspect of Ancestor
more info
  
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 1
Names
epididymis luminal protein 163
zona pellucida glycoprotein 1 (sperm receptor)

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

  1. NG_034138.1 RefSeqGene

    Range
    5001..13146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001391943.1 → NP_001378872.1  zona pellucida sperm-binding protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP000777, KF455399
    UniProtKB/TrEMBL
    Q6NVU7
    Related
    ENST00000537203.5
    Conserved Domains (1) summary
    smart00241
    Location:4 → 255
    ZP; Zona pellucida (ZP) domain

  2. NM_001391944.1 → NP_001378873.1  zona pellucida sperm-binding protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP000777, KF455399
    Conserved Domains (1) summary
    pfam00100
    Location:2 → 149
    Zona_pellucida; Zona pellucida-like domain

  3. NM_207341.4 → NP_997224.2  zona pellucida sperm-binding protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_997224.2

    Status: REVIEWED

    Source sequence(s)
    AP000777, KF455399
    Consensus CDS
    CCDS31572.1
    UniProtKB/Swiss-Prot
    P60852
    UniProtKB/TrEMBL
    V9HWI9
    Related
    ENSP00000278853.5, ENST00000278853.10
    Conserved Domains (3) summary
    smart00018
    Location:234 → 275
    PD; P or trefoil or TFF domain
    smart00241
    Location:279 → 548
    ZP; Zona pellucida (ZP) domain
    pfam00100
    Location:412 → 547
    Zona_pellucida; Zona pellucida-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    60867542..60875687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544853.3 → XP_011543155.1  zona pellucida sperm-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011543155.1

    UniProtKB/TrEMBL
    Q6NVU7
    Conserved Domains (1) summary
    smart00241
    Location:4 → 255
    ZP; Zona pellucida (ZP) domain

  2. XM_047426608.1 → XP_047282564.1  zona pellucida sperm-binding protein 1 isoform X2

  3. XM_011544852.3 → XP_011543154.1  zona pellucida sperm-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011543154.1

    UniProtKB/TrEMBL
    Q6NVU7
    Conserved Domains (1) summary
    smart00241
    Location:4 → 255
    ZP; Zona pellucida (ZP) domain

  4. XM_047426609.1 → XP_047282565.1  zona pellucida sperm-binding protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    60818698..60826844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368104.1 → XP_054224079.1  zona pellucida sperm-binding protein 1 isoform X1

  2. XM_054368102.1 → XP_054224077.1  zona pellucida sperm-binding protein 1 isoform X2

  3. XM_054368101.1 → XP_054224076.1  zona pellucida sperm-binding protein 1 isoform X1

  4. XM_054368103.1 → XP_054224078.1  zona pellucida sperm-binding protein 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P60852.1 GenPept UniProtKB/Swiss-Prot:P60852

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