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    POMZP3 POM121 and ZP3 fusion [ Homo sapiens (human) ]

    Gene ID: 22932, updated on 10-Dec-2019

    Summary

    Official Symbol
    POMZP3provided by HGNC
    Official Full Name
    POM121 and ZP3 fusionprovided by HGNC
    Primary source
    HGNC:HGNC:9203
    See related
    Ensembl:ENSG00000146707 MIM:600587
    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
    POM121; POM-ZP3
    Summary
    This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: POM121 (Gene ID: 9883) and POMZP3 (Gene ID: 22832) share the POM121 symbol/alias in common. POM121 is sometimes used as an alternative name for POM121 and ZP3 fusion, which can be confused with the official symbol for POM121 transmembrane nucleoporin (POM121). [05 Jul 2018]
    Expression
    Ubiquitous expression in testis (RPKM 14.6), bone marrow (RPKM 6.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See POMZP3 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (76609986..76627303, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76239303..76256620, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uroplakin 3B Neighboring gene uncharacterized LOC100133091 Neighboring gene speedy/RINGO cell cycle regulator family member E16 Neighboring gene 7q11.23 distal recombination region Neighboring gene uncharacterized LOC105375356 Neighboring gene uncharacterized LOC107986712

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC8359

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acrosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    structural constituent of egg coat IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    binding of sperm to zona pellucida IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    biological_process ND
    No biological Data available
    more info
     
    egg coat formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of acrosome reaction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    POM121 and ZP3 fusion protein
    Names
    POM (POM121 homolog, rat) and ZP3 fusion
    POM (POM121 rat homolog) and ZP3 fusion
    POM-ZP3 fusion protein
    POM121/ZP3 fusion protein

    NCBI Reference Sequences (RefSeq)

    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_012230.3NP_036362.3  POM121 and ZP3 fusion protein isoform 1

      See identical proteins and their annotated locations for NP_036362.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004980, BG461659, BI084456
      Consensus CDS
      CCDS43606.1
      UniProtKB/Swiss-Prot
      Q6PJE2
      Related
      ENSP00000309233.4, ENST00000310842.8
      Conserved Domains (2) summary
      pfam00100
      Location:76139
      Zona_pellucida; Zona pellucida-like domain
      pfam15229
      Location:5296
      POM121; POM121 family
    2. NM_152992.2NP_694537.1  POM121 and ZP3 fusion protein isoform 2

      See identical proteins and their annotated locations for NP_694537.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two exons in the coding region which results in a frameshift and early stop codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC004980, BG461659, BI084456
      Consensus CDS
      CCDS5590.1
      UniProtKB/Swiss-Prot
      Q6PJE2
      Related
      ENSP00000275569.4, ENST00000275569.8
      Conserved Domains (1) summary
      pfam15229
      Location:5296
      POM121; POM121 family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      76609986..76627303 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187561.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      96821..114138 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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