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

    Gene ID: 22917, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See ZP1 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60867542..60875687)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60818698..60826844)
    RS_2024_09 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. Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVF. Männikkö M, et al. Hum Reprod, 2005 Jun. PMID 15860499
    2. Mutant ZP1 in familial infertility. Huang HL, et al. N Engl J Med, 2014 Mar 27. PMID 24670168, Free PMC Article
    3. 'ZP domain' of human zona pellucida glycoprotein-1 binds to human spermatozoa and induces acrosomal exocytosis. Ganguly A, et al. Reprod Biol Endocrinol, 2010 Sep 11. PMID 20831819, Free PMC Article
    4. Novel mutation in the ZP1 gene and clinical implications. Yuan P, et al. J Assist Reprod Genet, 2019 Apr. PMID 30778819, Free PMC Article
    5. ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage. A case report. Dai C, et al. Hum Reprod, 2019 Nov 1. PMID 31734689

    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)

    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_2024_08

    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

      UniProtKB/TrEMBL
      Q6NVU7

    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

      UniProtKB/TrEMBL
      Q6NVU7

    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

    Gene LinkOut

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