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

Gene ID: 22932, updated on 11-Jun-2021

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
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
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Genomic context

See POMZP3 in Genome Data Viewer
Location:
7q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (76609986..76627279, complement)
105.20201022 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
enables acrosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in binding of sperm to zona pellucida IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in biological_process ND
No biological Data available
more info
 
involved_in egg coat formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of acrosome reaction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 
located_in 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)

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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_012230.5NP_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, ENST00000310842.9
    Conserved Domains (2) summary
    pfam00100
    Location:76139
    Zona_pellucida; Zona pellucida-like domain
    pfam15229
    Location:5296
    POM121; POM121 family
  2. NM_152992.4NP_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 109.20210514

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..76627279 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..114114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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