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POMZP3 Gene

protein-coding   GIFtS: 47
GCID: GC07M076239

POM121 And ZP3 Fusion

(Previous names: POM (POM121 rat homolog) and ZP3 fusion, POM (POM121 homolog,...)
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
POM121 And ZP3 Fusion1 2     POM121/ZP3 Fusion Protein1 2
POM (POM121 Homolog, Rat) And ZP3 Fusion1 2     POM-ZP32 3
POM (POM121 Rat Homolog) And ZP3 Fusion1 2     POM1212
POM-ZP3 Fusion Protein1 2     POM121 And ZP3 Fusion Protein2

External Ids:    HGNC: 92031   Entrez Gene: 229322   Ensembl: ENSG000001467077   OMIM: 6005875   UniProtKB: Q6PJE23   

Export aliases for POMZP3 gene to outside databases

Previous GC identifers: GC07U990154 GC07M074775 GC07M075837 GC07M075851 GC07M075883 GC07M076077 GC07M075572


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  NT_187561.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the POMZP3 gene promoter:
         USF1   p53   USF2   HEN1   MZF-1   S8   USF-1   Pax-4a   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): POMZP3 promoter sequence
   Search Chromatin IP Primers for POMZP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POMZP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.2

POMZP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POMZP3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M076239:  view genomic region     (about GC identifiers)

Start:
76,239,303 bp from pter      End:
76,256,620 bp from pter
Size:
17,318 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 75,572,366-75,589,683     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: POZP3_HUMAN, Q6PJE2 (See protein sequence)
Recommended Name: POM121 and ZP3 fusion protein  
Size: 187 amino acids; 20620 Da
Caution: The POM-ZP3 transcript appears to have arisen from a partial duplication and fusion of a 5' portion of a
POM121 homolog and exons 5-8 of ZP3
Sequence caution: Sequence=AAA85788.1; Type=Frameshift; Positions=187;
Secondary accessions: F6STJ3 Q12903 Q9BWB4
Alternative splicing: 2 isoforms:  Q6PJE2-4   Q6PJE2-5   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for POMZP3: NX_Q6PJE2

Explore proteomics data for POMZP3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys74
  • Modification sites at PhosphoSitePlus

  • See POMZP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_036362.3  NP_694537.1  

    ENSEMBL proteins: 
     ENSP00000275569   ENSP00000309233   ENSP00000416963   ENSP00000416591   ENSP00000405319  

    POMZP3 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001507 ZP_dom

    Graphical View of Domain Structure for InterPro Entry Q6PJE2

    ProtoNet protein and cluster: Q6PJE2


    POMZP3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for POMZP3:
    bipartite transcript for ZP3 (see FP3B) and a nuclear pore membrane,protein homolog to rat protein POM121

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    POMZP3 for ontologies           About GeneDecksing


    Animal Models:
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POMZP3

    miRNA
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    miRTarBase miRNAs that target POMZP3:
    hsa-mir-122-5p (MIRT023382)

    Block miRNA regulation of human, mouse, rat POMZP3 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidPOMZP3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POMZP3

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    nucleus2
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    POMZP3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POMZP3
    Interactions:

        GeneGlobe Interaction Network for POMZP3

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for POMZP3 (Q6PJE23 ENSP000003092334) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NMIQ132873I2D: score=1 
    C4BPAENSP000003560374STRING: ENSP00000356037
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    POMZP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for POMZP3 (POZP3)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POMZP3 gene (2 alternative transcripts): 
    NM_012230.3  NM_152992.2  

    Unigene Cluster for POMZP3:

    POM121 and ZP3 fusion
    Hs.488877  [show with all ESTs]
    Unigene Representative Sequence: NM_012230
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275569 ENST00000310842(uc003uft.3 uc003ufu.3) ENST00000441393
    ENST00000424818(uc011kgm.2) ENST00000454397
    miRNA
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    Block miRNA regulation of human, mouse, rat POMZP3 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidPOMZP3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for POMZP3
    Predesigned siRNA for gene silencing in human, mouse, rat POMZP3
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    Primer
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    OriGene qPCR primer pairs and template standards for POMZP3
    OriGene qSTAR qPCR primer pairs in human, mouse for POMZP3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat POMZP3
      QuantiTect SYBR Green Assays in human, mouse, rat POMZP3
      QuantiFast Probe-based Assays in human, mouse, rat POMZP3

    Additional mRNA sequence: 

    BC000487.2 BC017101.1 BC144677.1 U10099.1 

    13 DOTS entries:

    DT.92469787  DT.121090535  DT.95145207  DT.95145133  DT.121067326  DT.121090571  DT.121637693  DT.95145046 
    DT.95145124  DT.100027278  DT.95293148  DT.95362005  DT.97769393 

    Selected AceView cDNA sequences (see all 159):

    CR616549 BQ446470 AW162786 BF195407 AI075996 BF063092 AI359326 BF726964 
    AI802299 CR603033 CB241623 AI051631 BM806601 AI042214 AA383329 BC000487 
    CB120286 AW163456 BE893300 CD389947 BG460523 NM_012230 BV205867 AW249685 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    POMZP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    POMZP3 Expression
    About this image

    POMZP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POMZP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.488877

    UniProtKB/Swiss-Prot: POZP3_HUMAN, Q6PJE2
    Tissue specificity: Expressed in spleen, thymus, pancreas, testis, ovary, small intestine, colon and lymphocytes

        Custom PCR Arrays for POMZP3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMZP3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for POMZP3 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ZP36
    Gallus gallus zona pellucida sperm-binding protein...
    17(a)
    many ↔ many
    10(2131957-2134350) ENSGALG00000001559
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    17(a)
    1 → many
    GL343492.1(388222-397508)
    zebrafish
    (Danio rerio)
    Actinopterygii zp3b6
    zp3a.26
    (see all 7)
    zona pellucida glycoprotein 3b
    zona pellucida glycoprotein 3a, tandem duplicate 2...
    (see all 7)
    8(a)
    11(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    2(5895636-5901186) ENSDARG00000039828
    20(34012073-34014035) ENSDARG00000042130
            Species with no ortholog for POMZP3

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POMZP3 gene
    ZP32  
    Selected SIMAP similar genes for POMZP3 using alignment to 5 protein entries:     POZP3_HUMAN (see all proteins) (see all similar genes):
    POM121C    FAM3A    ZP3    AURA2    FAM138C    POM121
    KIAA1651    NF2    UTY    FP6651    FAM175A    FLJ20555
    DNAPTP3    GVQW1    SHANK2    OK/SW-cl.41    PKN1    LINC00269

    POMZP3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for POMZP3
    PGOHUM00000244500


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    10 SNPs for POMZP3    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998292741,2
    C--76258108(+) AAAAA-/GGGGGG 2 -- us2k10--------
    rs2019844891,2
    C--76258267(+) GGTAAC/TAGGGG 2 -- us2k10--------
    rs2020557711,2
    C--76258311(+) TCTTTA/GAACTA 2 -- us2k10--------
    rs2015208541,2
    C--76258375(+) CAGATC/GTCCTG 2 -- us2k10--------
    rs2003877271,2
    C--76258421(+) GAGAGA/GTCCAT 2 -- us2k10--------
    rs1468785501,2
    C--76258463(+) GAGGTA/TAAGAG 2 -- us2k10--------
    rs173412711,2,4
    ----see VAR_0567212 mis40--------
    rs2004942021,2
    ----76258079(+) TGTGAC/TTTCAC 2 -- us2k10--------
    rs2009867771,2
    ----76258108(+) AAAAAA/GGGGGG 2 -- us2k10--------
    rs1996524711,2
    ----76258397(+) GATGAC/TTGAGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for POMZP3 (76239303 - 76256620 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for POMZP3 (see all 42):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv120n16CNV Deletion17901297
    esv2734687CNV Deletion23290073
    dgv1218e199CNV Deletion23128226
    esv2422423CNV Duplication17116639
    esv2422494CNV Duplication17116639
    nsv471447CNV Duplication19718026
    dgv22n31CNV Duplication19718026
    dgv121n16CNV Insertion17901297
    dgv233e55CNV Loss17911159
    dgv235e55CNV Loss17911159

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600587    OMIM disorders: --


    POMZP3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): POMZP3

    Export disorders for POMZP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for POMZP3 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with POMZP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. POM-ZP3, a bipartite transcript derived from human ZP3 and a POM121 homologue. (PubMed id 7789967)1, 2, 3, 9 Kipersztok S.... Dean J. (Genomics 1995)
    2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    5. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    6. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    7. Nuclear pore complex assembly and maintenance in POM121- and gp210-deficient cells. (PubMed id 16702234)1 Stavru F....GAPrlich D. (J. Cell Biol. 2006)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)1 Harrington J.J.... Ducar M. (Nat. Biotechnol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22932 HGNC: 9203 AceView: POMZP3 Ensembl:ENSG00000146707 euGenes: HUgn22932
    ECgene: POMZP3 H-InvDB: POMZP3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for POMZP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POMZP3 gene:
    Search GeneIP for patents involving POMZP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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