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 ... See more...

Aliases for POMZP3 Gene

Aliases for POMZP3 Gene

  • POM121 And ZP3 Fusion 2 3 5
  • POM (POM121 Homolog, Rat) And ZP3 Fusion 2 3
  • POM (POM121 Rat Homolog) And ZP3 Fusion 2 3
  • POM121 And ZP3 Fusion Protein 3 4
  • POM121/ZP3 Fusion Protein 2 3
  • POM-ZP3 Fusion Protein 2 3
  • POM-ZP3 3 4
  • POM121 3

External Ids for POMZP3 Gene

Previous GeneCards Identifiers for POMZP3 Gene

  • GC07U990154
  • GC07M074775
  • GC07M075837
  • GC07M075851
  • GC07M075883
  • GC07M076077
  • GC07M076239
  • GC07M075572

Summaries for POMZP3 Gene

Entrez Gene Summary for POMZP3 Gene

  • 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]

GeneCards Summary for POMZP3 Gene

POMZP3 (POM121 And ZP3 Fusion) is a Protein Coding gene. An important paralog of this gene is ZP3.

Additional gene information for POMZP3 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POMZP3 Gene

Genomics for POMZP3 Gene

GeneHancer (GH) Regulatory Elements for POMZP3 Gene

Promoters and enhancers for POMZP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J076626 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 785.8 +0.4 402 3 CC2D1A DACH1 NKRF POLR2A ZFX MLLT1 ZNF687 PRDM1 MTA1 IKZF1 POMZP3 ZP3 ENSG00000205485 piR-47675-102 LOC100133091
GH07J076650 Promoter 0.3 EPDnew 750.3 -23.1 -23141 0.1 ENSG00000214243 lnc-POMZP3-1 POMZP3 lnc-UPK3B-6
GH07J076356 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 48.9 +268.7 268721 4.8 SIN3A SP1 CTCF SIX5 RBPJ SMARCE1 POLR2A ATF1 CREB1 HCFC1 YWHAG STAG3L1 POMZP3 SPDYE18 PMS2P3 FAM185BP ENSG00000205485 SRRM3 CCDC146 SPDYE5
GH07J076301 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 26.3 +320.6 320553 10.2 PPP1R10 GTF3C2 SP1 ZBTB40 LCORL FOXA1 ZBTB6 RBPJ POLR2A ZNF217 HSPB1 lnc-HSPB1-1 STAG3L1 PMS2P3 SPDYE5 SPDYE18 NSUN5P1 POMZP3 SPDYE17 ENSG00000205485
GH07J076395 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 32.2 +230.4 230356 2.9 GTF3C2 ZBTB40 SMARCE1 POLR2A CC2D1A L3MBTL2 DACH1 MNT TEAD4 NFIB ZP3 POMZP3 DTX2P1 PMS2P9 DTX2 FAM185BP SPDYE18 SPDYE5 UPK3B PMS2P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POMZP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POMZP3 gene promoter:
  • HEN1
  • Ik-1
  • MZF-1
  • p53
  • Pax-4a
  • S8
  • USF-1
  • USF1
  • USF2

Genomic Locations for POMZP3 Gene

Genomic Locations for POMZP3 Gene
chr7:76,609,986-76,627,303
(GRCh38/hg38)
Size:
17,318 bases
Orientation:
Minus strand
chr7:76,239,303-76,256,620
(GRCh37/hg19)
Size:
17,318 bases
Orientation:
Minus strand

Genomic View for POMZP3 Gene

Genes around POMZP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POMZP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POMZP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POMZP3 Gene

Proteins for POMZP3 Gene

  • Protein details for POMZP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PJE2-POZP3_HUMAN
    Recommended name:
    POM121 and ZP3 fusion protein
    Protein Accession:
    Q6PJE2
    Secondary Accessions:
    • F6STJ3
    • Q12903
    • Q9BWB4

    Protein attributes for POMZP3 Gene

    Size:
    187 amino acids
    Molecular mass:
    20620 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA85788.1; Type=Frameshift; Positions=187; Evidence={ECO:0000305};

    Alternative splice isoforms for POMZP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POMZP3 Gene

Post-translational modifications for POMZP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POMZP3 Gene

No data available for DME Specific Peptides for POMZP3 Gene

Domains & Families for POMZP3 Gene

Gene Families for POMZP3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POMZP3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POMZP3 Gene

GenScript: Design optimal peptide antigens:
  • POM121 and ZP3 fusion protein (POZP3_HUMAN)
genes like me logo Genes that share domains with POMZP3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for POMZP3 Gene

Function for POMZP3 Gene

Molecular function for POMZP3 Gene

GENATLAS Biochemistry:
bipartite transcript for ZP3 (see FP3B) and a nuclear pore membrane,protein homolog to rat protein POM121

Phenotypes From GWAS Catalog for POMZP3 Gene

Gene Ontology (GO) - Molecular Function for POMZP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0032190 acrosin binding IBA 21873635
GO:0035804 structural constituent of egg coat IEA --
genes like me logo Genes that share ontologies with POMZP3: view
genes like me logo Genes that share phenotypes with POMZP3: view

Animal Model Products

CRISPR Products

miRNA for POMZP3 Gene

miRTarBase miRNAs that target POMZP3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POMZP3 Gene

Localization for POMZP3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POMZP3 gene
Compartment Confidence
nucleus 4
extracellular 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POMZP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with POMZP3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for POMZP3 Gene

Pathways & Interactions for POMZP3 Gene

PathCards logo

SuperPathways for POMZP3 Gene

No Data Available

Interacting Proteins for POMZP3 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q6PJE2-POZP3_HUMAN ENSP00000309233 for POMZP3 Gene via MINT STRING IID

Gene Ontology (GO) - Biological Process for POMZP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007339 binding of sperm to zona pellucida IBA,IEA 21873635
GO:0008150 biological_process ND --
GO:0035803 egg coat formation IEA,IBA 21873635
GO:2000344 positive regulation of acrosome reaction IBA 21873635
genes like me logo Genes that share ontologies with POMZP3: view

No data available for Pathways by source and SIGNOR curated interactions for POMZP3 Gene

Drugs & Compounds for POMZP3 Gene

No Compound Related Data Available

Transcripts for POMZP3 Gene

mRNA/cDNA for POMZP3 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POMZP3 Gene

No ASD Table

Relevant External Links for POMZP3 Gene

GeneLoc Exon Structure for
POMZP3
ECgene alternative splicing isoforms for
POMZP3

Expression for POMZP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POMZP3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POMZP3 Gene



Protein tissue co-expression partners for POMZP3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POMZP3 Gene:

POMZP3

SOURCE GeneReport for Unigene cluster for POMZP3 Gene:

Hs.488877

mRNA Expression by UniProt/SwissProt for POMZP3 Gene:

Q6PJE2-POZP3_HUMAN
Tissue specificity: Expressed in spleen, thymus, pancreas, testis, ovary, small intestine, colon and lymphocytes.
genes like me logo Genes that share expression patterns with POMZP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for POMZP3 Gene

Orthologs for POMZP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for POMZP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POMZP3 33
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zp3 33
  • 20 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 19 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 15 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ZP3 33
  • 17 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 17 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii zp3a.2 33
  • 11 (a)
ManyToMany
zp3a.1 33
  • 11 (a)
ManyToMany
zp3.2 33 33
  • 10 (a)
ManyToMany
zgc:171779 33
  • 10 (a)
ManyToMany
zgc:173556 33
  • 10 (a)
ManyToMany
zp3b 33
  • 8 (a)
ManyToMany
Species where no ortholog for POMZP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POMZP3 Gene

ENSEMBL:
Gene Tree for POMZP3 (if available)
TreeFam:
Gene Tree for POMZP3 (if available)

Paralogs for POMZP3 Gene

Paralogs for POMZP3 Gene

(20) SIMAP similar genes for POMZP3 Gene using alignment to 5 proteins:

  • POZP3_HUMAN
  • C9J370_HUMAN
  • C9JER0_HUMAN
  • H7C4D5_HUMAN
  • L0R526_HUMAN

Pseudogenes.org Pseudogenes for POMZP3 Gene

genes like me logo Genes that share paralogs with POMZP3: view

Variants for POMZP3 Gene

Sequence variations from dbSNP and Humsavar for POMZP3 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000170647 -- 76,623,101(-) G/C intron_variant
rs1000431024 -- 76,627,404(-) G/T upstream_transcript_variant
rs1000484378 -- 76,613,439(-) G/A intron_variant
rs1001087092 -- 76,618,698(-) T/C intron_variant
rs1001181895 -- 76,624,124(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for POMZP3 Gene

Variant ID Type Subtype PubMed ID
dgv11464n54 CNV gain 21841781
dgv11465n54 CNV loss 21841781
dgv120n16 CNV deletion 17901297
dgv1218e199 CNV deletion 23128226
dgv121n16 CNV insertion 17901297
dgv22n31 CNV gain 19718026
dgv232e55 CNV gain 17911159
dgv233e55 CNV loss 17911159
dgv234e55 CNV gain 17911159
dgv235e55 CNV loss 17911159
dgv63n64 CNV loss 17921354
dgv6470n100 CNV loss 25217958
dgv6471n100 CNV gain 25217958
dgv6472n100 CNV loss 25217958
dgv6473n100 CNV gain 25217958
dgv6474n100 CNV loss 25217958
dgv6475n100 CNV gain 25217958
dgv6476n100 CNV gain 25217958
dgv6477n100 CNV loss 25217958
dgv6478n100 CNV gain 25217958
dgv6479n100 CNV gain+loss 25217958
dgv6480n100 CNV gain 25217958
dgv6481n100 CNV gain 25217958
dgv6482n100 CNV loss 25217958
dgv6483n100 CNV loss 25217958
dgv6484n100 CNV gain 25217958
dgv64n64 CNV gain 17921354
dgv822n27 CNV loss 19166990
dgv823n27 CNV gain 19166990
esv23975 CNV gain+loss 19812545
esv2421739 OTHER complex 20811451
esv2422423 CNV duplication 17116639
esv2422494 CNV duplication 17116639
esv2734687 CNV deletion 23290073
esv2761124 CNV gain 21179565
esv2764008 CNV gain+loss 21179565
esv3613766 CNV loss 21293372
esv3891147 CNV gain+loss 25118596
nsv1034692 CNV gain+loss 25217958
nsv1074523 CNV deletion 25765185
nsv1144185 CNV deletion 24896259
nsv1161565 CNV duplication 26073780
nsv428174 CNV gain 18775914
nsv470321 CNV gain 18288195
nsv471447 CNV gain 19718026
nsv517634 CNV gain+loss 19592680
nsv528969 CNV gain 19592680
nsv607585 CNV gain 21841781
nsv607593 CNV gain 21841781
nsv607624 CNV gain 21841781
nsv607627 CNV loss 21841781
nsv7403 OTHER inversion 18451855
nsv824177 CNV gain 20364138
nsv951361 CNV deletion 24416366
nsv970895 CNV duplication 23825009
nsv981538 CNV duplication 23825009

Variation tolerance for POMZP3 Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POMZP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POMZP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMZP3 Gene

Disorders for POMZP3 Gene

Additional Disease Information for POMZP3

No disorders were found for POMZP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POMZP3 Gene

Publications for POMZP3 Gene

  1. POM-ZP3, a bipartite transcript derived from human ZP3 and a POM121 homologue. (PMID: 7789967) Kipersztok S … Dean J (Genomics 1995) 2 3 4 23 56
  2. Proteomic analysis of the cullin 4B interactome using proximity-dependent biotinylation in living cells. (PMID: 28225217) Zhang H … Liu F (Proteomics 2017) 3 56
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 56
  4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods NT … Monteiro AN (Science signaling 2012) 3 56
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56

Products for POMZP3 Gene

Sources for POMZP3 Gene