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    ZPBP zona pellucida binding protein [ Homo sapiens (human) ]

    Gene ID: 11055, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZPBPprovided by HGNC
    Official Full Name
    zona pellucida binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:15662
    See related
    Ensembl:ENSG00000042813 MIM:608498; AllianceGenome:HGNC:15662
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZPBP1; SPGF66
    Summary
    ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]
    Expression
    Restricted expression toward testis (RPKM 37.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See ZPBP in Genome Data Viewer
    Location:
    7p12.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (49840654..50093246, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (50001730..50254410, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (49977037..50132842, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene DEAD-box helicase 43 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr7:49526485-49526986 Neighboring gene NANOG hESC enhancer GRCh37_chr7:49546835-49547364 Neighboring gene uncharacterized LOC124901804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25988 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:49705354-49706553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25989 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:49830702-49831686 Neighboring gene Sharpr-MPRA regulatory region 9573 Neighboring gene von Willebrand factor C domain containing 2 Neighboring gene NANOG hESC enhancer GRCh37_chr7:49947141-49947642 Neighboring gene G protein nucleolar 2 pseudogene 1 Neighboring gene MPRA-validated peak6516 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:50111360-50111860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18176 Neighboring gene uncharacterized LOC124901630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18177 Neighboring gene sperm microtubule inner protein 7

    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 of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men. Yatsenko AN, et al. Mol Hum Reprod, 2012 Jan. PMID 21911476, Free PMC Article
    2. Molecules involved in mammalian sperm-egg interaction. McLeskey SB, et al. Int Rev Cytol, 1998. PMID 9378618
    3. Molecular and immunological approaches to mammalian fertilization. Mori T, et al. J Reprod Immunol, 2000 Jul. PMID 10924747
    4. Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. Oud MS, et al. Hum Reprod, 2020 Jan 1. PMID 31985809, Free PMC Article
    5. Identification and characterization of human ZPBP-like gene in silico. Katoh M, et al. Int J Mol Med, 2003 Sep. PMID 12883658

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that missense mutations exert a dominant-negative effect due to altered ZPBP1 protein folding and protein:protein interactions in the acrosome.
      Title: Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men.
    2. Data show that loss of zona pellucida binding proteins 1 and 2 in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis.
      Title: Loss of zona pellucida binding proteins in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis.
    Submit: New GeneRIF Correction

    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
    Spermatogenic failure 66
    MedGen: C5676945 OMIM: 619799 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    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

    Homology

    Clone Names

    • FLJ93221

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in acrosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in binding of sperm to zona pellucida IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus HDA PubMed 
    part_of zona pellucida receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zona pellucida-binding protein 1
    Names
    inner acrosomal membrane IAM38

    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.

    mRNA and Protein(s)

    1. NM_001159878.2 → NP_001153350.1  zona pellucida-binding protein 1 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AC034148, AI207093, AK312799
      Consensus CDS
      CCDS55110.1
      UniProtKB/Swiss-Prot
      Q9BS86
      Related
      ENSP00000402071.1, ENST00000419417.5
      Conserved Domains (2) summary
      pfam07354
      Location:86 → 350
      Sp38; Zona-pellucida-binding protein (Sp38)
      smart00410
      Location:97 → 142
      IG_like; Immunoglobulin like

    2. NM_007009.3 → NP_008940.2  zona pellucida-binding protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_008940.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC034148, AI207093, BC005223
      Consensus CDS
      CCDS5509.1
      UniProtKB/Swiss-Prot
      A4D253, C9JPU1, Q15941, Q75KX9, Q75MI3, Q9BS86
      Related
      ENSP00000046087.2, ENST00000046087.7
      Conserved Domains (2) summary
      pfam07354
      Location:86 → 351
      Sp38; Zona-pellucida-binding protein (Sp38)
      smart00410
      Location:97 → 143
      IG_like; Immunoglobulin like

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      49840654..50093246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515097.2 → XP_011513399.1  zona pellucida-binding protein 1 isoform X3

      Conserved Domains (2) summary
      pfam07354
      Location:86 → 322
      Sp38; Zona-pellucida-binding protein (Sp38)
      smart00410
      Location:97 → 143
      IG_like; Immunoglobulin like

    2. XM_011515100.3 → XP_011513402.1  zona pellucida-binding protein 1 isoform X4

      Conserved Domains (1) summary
      pfam07354
      Location:71 → 280
      Sp38; Zona-pellucida-binding protein (Sp38)

    3. XM_011515101.4 → XP_011513403.1  zona pellucida-binding protein 1 isoform X5

      Conserved Domains (1) summary
      pfam07354
      Location:86 → 271
      Sp38; Zona-pellucida-binding protein (Sp38)

    4. XM_011515096.3 → XP_011513398.1  zona pellucida-binding protein 1 isoform X2

      Conserved Domains (2) summary
      pfam07354
      Location:86 → 321
      Sp38; Zona-pellucida-binding protein (Sp38)
      smart00410
      Location:97 → 142
      IG_like; Immunoglobulin like

    5. XM_011515095.3 → XP_011513397.1  zona pellucida-binding protein 1 isoform X1

      Conserved Domains (2) summary
      pfam07354
      Location:86 → 322
      Sp38; Zona-pellucida-binding protein (Sp38)
      smart00410
      Location:97 → 143
      IG_like; Immunoglobulin like

    6. XM_011515102.3 → XP_011513404.1  zona pellucida-binding protein 1 isoform X7

      Conserved Domains (2) summary
      pfam07354
      Location:12 → 248
      Sp38; Zona-pellucida-binding protein (Sp38)
      smart00410
      Location:23 → 69
      IG_like; Immunoglobulin like

    7. XM_024446645.2 → XP_024302413.1  zona pellucida-binding protein 1 isoform X6

      Conserved Domains (1) summary
      pfam07354
      Location:86 → 300
      Sp38; Zona-pellucida-binding protein (Sp38)

    8. XM_011515103.2 → XP_011513405.1  zona pellucida-binding protein 1 isoform X8

      Conserved Domains (2) summary
      pfam07354
      Location:86 → 258
      Sp38; Zona-pellucida-binding protein (Sp38)
      smart00410
      Location:97 → 143
      IG_like; Immunoglobulin like

    RNA

    1. XR_001744543.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      50001730..50254410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357158.1 → XP_054213133.1  zona pellucida-binding protein 1 isoform X3

    2. XM_054357159.1 → XP_054213134.1  zona pellucida-binding protein 1 isoform X4

    3. XM_054357160.1 → XP_054213135.1  zona pellucida-binding protein 1 isoform X5

    4. XM_054357157.1 → XP_054213132.1  zona pellucida-binding protein 1 isoform X1

    5. XM_054357162.1 → XP_054213137.1  zona pellucida-binding protein 1 isoform X7

    6. XM_054357161.1 → XP_054213136.1  zona pellucida-binding protein 1 isoform X6

    7. XM_054357163.1 → XP_054213138.1  zona pellucida-binding protein 1 isoform X8

    RNA

    1. XR_008487526.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BS86.1 GenPept UniProtKB/Swiss-Prot:Q9BS86

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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