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

    Gene ID: 22932, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:9203
    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
    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
    all
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    Genomic context

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    See POMZP3 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (76609986..76627279, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77889199..77906201, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76239303..76256596, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901675 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76139334-76139906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76139907-76140479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76141233-76141884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76141885-76142536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76142537-76143186 Neighboring gene uroplakin 3B Neighboring gene speedy/RINGO cell cycle regulator family member E16 Neighboring gene long intergenic non-protein coding RNA 3009 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76234980-76235481 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76235482-76235982 Neighboring gene 7q11.23 distal recombination region Neighboring gene ReSE screen-validated silencer GRCh37_chr7:76261368-76261573 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:76302620-76303188 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:76357185-76358384 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:76513437-76513979 Neighboring gene uncharacterized LOC105375358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76583582-76584448 Neighboring gene MPRA-validated peak6614 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76586180-76587044 Neighboring gene DTX2 pseudogene 1 Neighboring gene farnesyl diphosphate synthase pseudogene 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. POM-ZP3, a bipartite transcript derived from human ZP3 and a POM121 homologue. Kipersztok S, et al. Genomics, 1995 Jan 20. PMID 7789967
    2. Proteomic analysis of the cullin 4B interactome using proximity-dependent biotinylation in living cells. Zhang H, et al. Proteomics, 2017 Apr. PMID 28225217
    3. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    4. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118, Free PMC Article
    5. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8359

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    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)

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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_012230.5 → NP_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
      F6STJ3, Q12903, Q6PJE2, Q9BWB4
      Related
      ENSP00000309233.4, ENST00000310842.9
      Conserved Domains (2) summary
      pfam00100
      Location:76 → 139
      Zona_pellucida; Zona pellucida-like domain
      pfam15229
      Location:52 → 96
      POM121; POM121 family

    2. NM_152992.4 → NP_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:52 → 96
      POM121; POM121 family

    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
      76609986..76627279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187561.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      96821..114114 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      77889199..77906201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A56844 GenPept UniProt:A56844
    Q6PJE2.4 GenPept UniProtKB/Swiss-Prot:Q6PJE2

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