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

Gene ID: 11055, updated on 5-Mar-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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Location:
7p12.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (49840654..50093246, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (50001730..50254410, complement)
105.20220307 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. 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
  4. Molecular and immunological approaches to mammalian fertilization. Mori T, et al. J Reprod Immunol, 2000 Jul. PMID 10924747
  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)

Genotypes

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_2023_10

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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