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DZIP3 Gene

protein-coding   GIFtS: 56
GCID: GC03P108308

DAZ Interacting Zinc Finger Protein 3

(Previous names: DAZ interacting protein 3, zinc finger)
  See related diseases
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
DAZ Interacting Zinc Finger Protein 31 2     PPP1R662
DAZ Interacting Protein 3, Zinc Finger1 2     UURF22
Human RNA-Binding Ubiquitin Ligase Of 138 KDa1 2     E3 Ubiquitin-Protein Ligase DZIP32
DAZ-Interacting Protein 32 3     Protein Phosphatase 1, Regulatory Subunit 662
hRUL1382 3     UURF2 Ubiquitin Ligase2
RNA-Binding Ubiquitin Ligase Of 138 KDa2 3     Zinc Finger DAZ Interacting Protein 32
Protein Phosphatase 11     EC 6.3.2.-3
Regulatory Subunit 661     KIAA06753

External Ids:    HGNC: 309381   Entrez Gene: 96662   Ensembl: ENSG000001989197   OMIM: 6086725   UniProtKB: Q86Y133   

Export aliases for DZIP3 gene to outside databases

Previous GC identifers: GC03P107836 GC03P109589 GC03P109629 GC03P109791 GC03P105681


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DZIP3 Gene:
DZIP3 (DAZ interacting zinc finger protein 3) is a protein-coding gene. Diseases associated with DZIP3 include azoospermia, and ataxia. GO annotations related to this gene include phosphatase binding and RNA binding. An important paralog of this gene is TTC3.

UniProtKB/Swiss-Prot: DZIP3_HUMAN, Q86Y13
Function: E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target
proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a
thioester and then directly transfers the ubiquitin to targeted substrates. Able to specifically bind RNA




(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_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DZIP3 gene promoter:
         c-Fos   Bach1   SRF   AP-1   AML1a   ATF-2   SRF (504 AA)   FosB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDZIP3 promoter sequence
   Search Chromatin IP Primers for DZIP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DZIP3


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

Entrez Gene cytogenetic band: 3q13.13   Ensembl cytogenetic band:  3q13.13   HGNC cytogenetic band: 3q13.13

DZIP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DZIP3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P108308:  view genomic region     (about GC identifiers)

Start:
108,308,337 bp from pter      End:
108,413,693 bp from pter
Size:
105,357 bases      Orientation:
plus strand

(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: DZIP3_HUMAN, Q86Y13 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase DZIP3  
Size: 1208 amino acids; 138604 Da
Subunit: Interacts with DAZ proteins
Sequence caution: Sequence=AAH39018.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH56674.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAK69484.1; Type=Frameshift; Positions=1127; Sequence=BAA31650.2; Type=Erroneous
initiation;
Secondary accessions: B3KN01 O75162 Q6P3R9 Q6PH82 Q86Y14 Q86Y15 Q86Y16 Q8IWI0 Q96RS9
Alternative splicing: 2 isoforms:  Q86Y13-1   Q86Y13-2   

Explore the universe of human proteins at neXtProt for DZIP3: NX_Q86Y13

Explore proteomics data for DZIP3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys748, Lys846, Lys1051
  • Modification sites at PhosphoSitePlus

  • See DZIP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055463.1  
    ENSEMBL proteins: 
     ENSP00000355028   ENSP00000418871   ENSP00000420030   ENSP00000418115   ENSP00000417829  
     ENSP00000419981  
    Reactome Protein details: Q86Y13

    DZIP3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for DZIP3
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    OriGene Custom Protein Services for DZIP3
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    Novus Biologicals DZIP3 Protein
    Novus Biologicals DZIP3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DZIP3

    DZIP3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for DZIP3
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    Novus Biologicals DZIP3 Antibodies
    Abcam antibodies for DZIP3
    Cloud-Clone Corp. Antibodies for DZIP3
    ThermoFisher Antibody for DZIP3
    Search LSBio for Antibodies for DZIP3

    DZIP3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for DZIP3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DZIP3
    Cloud-Clone Corp. CLIAs for DZIP3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits
    RNF: RING-type (C3HC4) zinc fingers

    2 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q86Y13

    ProtoNet protein and cluster: Q86Y13

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: DZIP3_HUMAN, Q86Y13
    Similarity: Contains 1 RING-type zinc finger


    DZIP3 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:

         UniProtKB/Swiss-Prot Summary: DZIP3_HUMAN, Q86Y13
    Function: E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target
    proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a
    thioester and then directly transfers the ubiquitin to targeted substrates. Able to specifically bind RNA

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IDA12538761
    GO:0004842ubiquitin-protein ligase activity IDA12538761
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0019902phosphatase binding IDA19389623
         
    DZIP3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DZIP3:
     Increased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DZIP3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DZIP3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DZIP3

    miRNA
    Products:
        
    miRTarBase miRNAs that target DZIP3:
    hsa-mir-130b-5p (MIRT038320), hsa-mir-93-5p (MIRT048750)

    Block miRNA regulation of human, mouse, rat DZIP3 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate DZIP3:
    hsa-miR-607 hsa-miR-448 hsa-miR-494 hsa-miR-3156-5p hsa-miR-624 hsa-miR-944 hsa-miR-1305 hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidDZIP3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DZIP3
    Predesigned siRNA for gene silencing in human, mouse, rat DZIP3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DZIP3

    Clone
    Products:
         
    OriGene clones in human, mouse for DZIP3 (see all 8)
    OriGene ORF clones in mouse, rat for DZIP3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DZIP3 (NM_014648)
    Sino Biological Human cDNA Clone for DZIP3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DZIP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DZIP3

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for DZIP3
    Browse ESI BIO Cell Lines and PureStem Progenitors for DZIP3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DZIP3


    (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 UniProtKB/Swiss-Prot
    DZIP3_HUMAN, Q86Y13: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12538761

    DZIP3 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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    SuperPaths for DZIP3 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for DZIP3
        Antigen processing: Ubiquitination & Proteasome degradation


    UniProtKB/Swiss-Prot: DZIP3_HUMAN, Q86Y13
    Pathway: Protein modification; protein ubiquitination


    DZIP3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DZIP3: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for DZIP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DZIP3 (Q86Y131, 2, 3 ENSP000003550284) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2867197 I2D: score=3 STRING: ENSP00000244769
    TOLLIPQ9H0E21, 3, ENSP000003147334EBI-948630,EBI-74615 I2D: score=1 STRING: ENSP00000314733
    AKTIPQ9H8T03, ENSP000003002454I2D: score=2 STRING: ENSP00000300245
    DAZ1Q9NQZ33, ENSP000003845734I2D: score=2 STRING: ENSP00000384573
    TSG101Q998163, ENSP000002519684I2D: score=2 STRING: ENSP00000251968
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA12538761

    DZIP3 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 DZIP3

    4 HMDB Compounds for DZIP3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (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 DZIP3 gene: 
    NM_014648.3  

    Unigene Cluster for DZIP3:

    DAZ interacting protein 3, zinc finger
    Hs.409210  [show with all ESTs]
    Unigene Representative Sequence: NM_014648
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361582(uc003dxd.3 uc011bhm.2) ENST00000495008 ENST00000486815
    ENST00000479138(uc003dxe.1) ENST00000497905 ENST00000463306(uc003dxf.1 uc003dxg.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DZIP3 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate DZIP3:
    hsa-miR-607 hsa-miR-448 hsa-miR-494 hsa-miR-3156-5p hsa-miR-624 hsa-miR-944 hsa-miR-1305 hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidDZIP3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DZIP3
    Predesigned siRNA for gene silencing in human, mouse, rat DZIP3
    Clone
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    OriGene clones in human, mouse for DZIP3 (see all 8)
    OriGene ORF clones in mouse, rat for DZIP3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DZIP3 (NM_014648)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DZIP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DZIP3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DZIP3
    OriGene qSTAR qPCR primer pairs in human, mouse for DZIP3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DZIP3
      QuantiTect SYBR Green Assays in human, mouse, rat DZIP3
      QuantiFast Probe-based Assays in human, mouse, rat DZIP3

    Additional mRNA sequence: 

    AB014575.1 AF279370.1 AK023138.1 AK023389.1 AK294967.1 AK303942.1 AY227651.1 AY227652.1 
    AY227653.1 AY495710.1 BC012631.1 BC039018.1 BC056674.1 BC063882.1 

    17 DOTS entries:

    DT.97843518  DT.40290221  DT.100024295  DT.100790656  DT.120927092  DT.407309  DT.100790652  DT.434495 
    DT.100790657  DT.101984159  DT.120927071  DT.100790654  DT.120927085  DT.95107081  DT.120927099  DT.95074077 
    DT.95212739 

    Selected AceView cDNA sequences (see all 157):

    BC039018 AY227654 BM702772 BU624539 AI025876 AU131065 AU280624 BG150218 
    AB014575 BU676195 AA243371 CD300234 BM698594 AA455209 AA331564 AA243554 
    AY227651 BU729821 BM697300 BC063882 BF594779 NM_014648 BM848423 AA766068 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for DZIP3    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:              -                                                                                                                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            

    ExUns: 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33
    SP1:              -                                                   
    SP2:                                                                  
    SP3:                                                                  


    ECgene alternative splicing isoforms for DZIP3

    (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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    DZIP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCTGGTTT
    DZIP3 Expression
    About this image


    DZIP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Blood (Cardiovascular System)
             T Helper Cells Thymus
     
     Limb (Muscoskeletal System)
    DZIP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DZIP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.409210

    UniProtKB/Swiss-Prot: DZIP3_HUMAN, Q86Y13
    Tissue specificity: Widely expressed at low level. Highly expressed in skeletal muscle, kidney and heart.
    Expressed at low level in placenta, lung, brain, liver and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DZIP3: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for DZIP3
    OriGene qSTAR qPCR primer pairs in human, mouse for DZIP3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DZIP3
    QuantiTect SYBR Green Assays in human, mouse, rat DZIP3
    QuantiFast Probe-based Assays in human, mouse, rat DZIP3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DZIP3

    (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 human and mouse.

    Orthologs for DZIP3 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dzip31 , 5 DAZ interacting protein 3, zinc finger1, 5 86.02(n)1
    83.53(a)1
      16 (30.75 cM)5
    2241701  NM_001110017.11  NP_001103487.11 
     489242325 


    ENSEMBL Gene Tree for DZIP3 (if available)
    TreeFam Gene Tree for DZIP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DZIP3 gene
    TTC32  RNF2142  

    DZIP3 for paralogs           About GeneDecksing



    (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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    Selected SNPs for DZIP3 (see all 1973)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452061311,2
    C--105679866(+) GGGGCC/TAGAAA 1 -- us2k10--------
    rs1426226501,2
    C--108310516(+) GAAACA/CCCAAT 1 -- int10--------
    rs783359631,2
    F--108310702(+) GCCGGG/ACATGG 1 -- int11Minor allele frequency- A:0.05WA 118
    rs1881327281,2
    C--108310712(+) GGTGTA/GCTCAC 1 -- int10--------
    rs67749441,2
    C,F,A--108310733(+) agctaC/Gtctgg 1 -- int17Minor allele frequency- G:0.19NA WA 248
    rs764373061,2
    C,F--108310762(+) CACTTG/AAGGCT 1 -- int11Minor allele frequency- A:0.03EA 120
    rs67994991,2
    C,F,A--108310837(+) aaaaaA/Caaaaa 1 -- int1 trp35Minor allele frequency- C:0.17NA WA 244
    rs1146793621,2
    F--108310882(+) TTATTA/GGCCTT 1 -- int11Minor allele frequency- G:0.01WA 118
    rs1929028561,2
    --108310989(+) TGAATA/GAACTA 1 -- int10--------
    rs98636341,2
    C,F,A,H--108311159(+) GAGGCA/GTGAAG 1 -- int15Minor allele frequency- G:0.03NS EA WA 538

    HapMap Linkage Disequilibrium report for DZIP3 (108308337 - 108413693 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for DZIP3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669006CNV Deletion23128226
    esv2725755CNV Deletion23290073
    nsv877325CNV Loss21882294
    dgv5229n71CNV Loss21882294
    esv24174CNV Loss19812545
    nsv829659CNV Gain17160897
    nsv829658CNV Gain17160897

    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: 608672    OMIM disorders: --

    2 diseases for DZIP3:    
    About MalaCards
    azoospermia    ataxia


    DZIP3 for disorders           About GeneDecksing


    Export disorders for DZIP3 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 DZIP3 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with DZIP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. hRUL138, a novel human RNA-binding RING-H2 ubiquitin-protein ligase. (PubMed id 12538761)1, 2, 3 Kreft S.G. and Nassal M. (J. Cell Sci. 2003)
    2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1998)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. (PubMed id 12511597)1, 2 Moore F.L.... Reijo Pera R.A. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    6. Systematic analysis of dimeric E3-RING interactions reveals increased combinatorial complexity in human ubiquitination networks. (PubMed id 22493164)1 Woodsmith J....Sanderson C.M. (amp 2012)
    7. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S.... Dorf M.E. (Immunity 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (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)
    About This Section

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    Entrez Gene: 9666 HGNC: 30938 AceView: DZIP3 Ensembl:ENSG00000198919 euGenes: HUgn9666
    ECgene: DZIP3 H-InvDB: DZIP3

    (According to HUGE)
    About This Section

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    HUGE: KIAA0675

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DZIP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for DZIP3 gene:
    Search GeneIP for patents involving DZIP3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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