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Aliases for DZIP3 Gene

Aliases for DZIP3 Gene

  • DAZ Interacting Zinc Finger Protein 3 2 3 5
  • Human RNA-Binding Ubiquitin Ligase Of 138 KDa 2 3
  • Protein Phosphatase 1, Regulatory Subunit 66 2 3
  • RING-Type E3 Ubiquitin Transferase DZIP3 3 4
  • RNA-Binding Ubiquitin Ligase Of 138 KDa 3 4
  • DAZ Interacting Protein 3, Zinc Finger 2 3
  • DAZ-Interacting Protein 3 3 4
  • HRUL138 3 4
  • RNA-Binding RING-H2 Protein-Ubiquitin Ligase 3
  • Zinc Finger DAZ Interacting Protein 3 3
  • E3 Ubiquitin-Protein Ligase DZIP3 3
  • UURF2 Ubiquitin Ligase 3
  • EC 2.3.2.27 4
  • KIAA0675 4
  • PPP1R66 3
  • UURF2 3

External Ids for DZIP3 Gene

Previous GeneCards Identifiers for DZIP3 Gene

  • GC03P107836
  • GC03P109589
  • GC03P109629
  • GC03P109791
  • GC03P108308
  • GC03P105681

Summaries for DZIP3 Gene

GeneCards Summary for DZIP3 Gene

DZIP3 (DAZ Interacting Zinc Finger Protein 3) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is TTC3.

UniProtKB/Swiss-Prot for DZIP3 Gene

  • 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.

Additional gene information for DZIP3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DZIP3 Gene

Genomics for DZIP3 Gene

GeneHancer (GH) Regulatory Elements for DZIP3 Gene

Promoters and enhancers for DZIP3 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
GH03J108587 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 667.6 -0.1 -103 3.3 PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 POLR2B DZIP3 CIP2A ENSG00000276763
GH03J108602 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 659 +13.9 13887 2.4 RFX1 POLR2A E4F1 DZIP3 MYH15 CIP2A LOC105374033
GH03J108821 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 11 +234.7 234659 5 CTBP1 POLR2A FEZF1 TRAT1 DZIP3 RETNLB MYH15 GC03P108894
GH03J108470 Enhancer 0.8 Ensembl ENCODE 13.4 -117.2 -117150 3.6 JUN ZNF10 CEBPB CBFA2T3 EP300 SP1 ZNF335 FOSL1 JUND POLR2A DZIP3 MYH15 CIP2A RPL13P8 GC03M108465 GC03M108377
GH03J108486 Enhancer 0.7 ENCODE 8 -102.3 -102312 1.1 MEIS2 PKNOX1 ATF1 NFRKB NRF1 MAFG BACH1 JUND MAFF ZNF316 DZIP3 GC03M108465 MYH15 GC03M108377
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DZIP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DZIP3 gene promoter:

Genomic Locations for DZIP3 Gene

Genomic Locations for DZIP3 Gene
chr3:108,589,490-108,694,846
(GRCh38/hg38)
Size:
105,357 bases
Orientation:
Plus strand
chr3:108,308,337-108,413,693
(GRCh37/hg19)

Genomic View for DZIP3 Gene

Genes around DZIP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DZIP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DZIP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DZIP3 Gene

Proteins for DZIP3 Gene

  • Protein details for DZIP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Y13-DZIP3_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase DZIP3
    Protein Accession:
    Q86Y13
    Secondary Accessions:
    • B3KN01
    • O75162
    • Q6P3R9
    • Q6PH82
    • Q86Y14
    • Q86Y15
    • Q86Y16
    • Q8IWI0
    • Q96RS9

    Protein attributes for DZIP3 Gene

    Size:
    1208 amino acids
    Molecular mass:
    138604 Da
    Quaternary structure:
    • Interacts with DAZ proteins.
    SequenceCaution:
    • Sequence=AAH39018.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH56674.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAK69484.1; Type=Frameshift; Positions=1127; Evidence={ECO:0000305}; Sequence=BAA31650.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DZIP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DZIP3 Gene

Post-translational modifications for DZIP3 Gene

  • Ubiquitination at Lys1051, isoforms=846, and isoforms=748
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DZIP3 Gene

Domains & Families for DZIP3 Gene

Gene Families for DZIP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DZIP3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DZIP3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DZIP3: view

No data available for UniProtKB/Swiss-Prot for DZIP3 Gene

Function for DZIP3 Gene

Molecular function for DZIP3 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.

Enzyme Numbers (IUBMB) for DZIP3 Gene

Phenotypes From GWAS Catalog for DZIP3 Gene

Gene Ontology (GO) - Molecular Function for DZIP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 12538761
GO:0004842 ubiquitin-protein transferase activity IDA 12538761
GO:0005515 protein binding IPI 21903422
GO:0016740 transferase activity IEA --
GO:0019902 phosphatase binding IDA 19389623
genes like me logo Genes that share ontologies with DZIP3: view
genes like me logo Genes that share phenotypes with DZIP3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DZIP3

miRNA for DZIP3 Gene

miRTarBase miRNAs that target DZIP3

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DZIP3 Gene

Localization for DZIP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DZIP3 Gene

Cytoplasm.

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 DZIP3 gene
Compartment Confidence
endoplasmic reticulum 3
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DZIP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000836 Hrd1p ubiquitin ligase complex IBA --
GO:0005737 cytoplasm IDA,IEA 12538761
GO:0036513 Derlin-1 retrotranslocation complex IBA --
GO:0044322 endoplasmic reticulum quality control compartment IBA --
genes like me logo Genes that share ontologies with DZIP3: view

Pathways & Interactions for DZIP3 Gene

genes like me logo Genes that share pathways with DZIP3: view

UniProtKB/Swiss-Prot Q86Y13-DZIP3_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for DZIP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 12538761
GO:0016567 protein ubiquitination IEA --
GO:0030433 ubiquitin-dependent ERAD pathway IBA --
GO:0030968 endoplasmic reticulum unfolded protein response IBA --
genes like me logo Genes that share ontologies with DZIP3: view

No data available for SIGNOR curated interactions for DZIP3 Gene

Drugs & Compounds for DZIP3 Gene

(3) Drugs for DZIP3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(1) Additional Compounds for DZIP3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with DZIP3: view

Transcripts for DZIP3 Gene

Unigene Clusters for DZIP3 Gene

DAZ interacting protein 3, zinc finger:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DZIP3 Gene

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:

Relevant External Links for DZIP3 Gene

GeneLoc Exon Structure for
DZIP3
ECgene alternative splicing isoforms for
DZIP3

Expression for DZIP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DZIP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DZIP3 Gene

This gene is overexpressed in Saliva (50.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DZIP3 Gene



NURSA nuclear receptor signaling pathways regulating expression of DZIP3 Gene:

DZIP3

SOURCE GeneReport for Unigene cluster for DZIP3 Gene:

Hs.409210

mRNA Expression by UniProt/SwissProt for DZIP3 Gene:

Q86Y13-DZIP3_HUMAN
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.

Evidence on tissue expression from TISSUES for DZIP3 Gene

  • Lung(4.8)
  • Pancreas(4.8)
  • Nervous system(4.7)
  • Liver(4.1)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with DZIP3: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DZIP3 Gene

Orthologs for DZIP3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DZIP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DZIP3 34 33
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DZIP3 34 33
  • 91.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DZIP3 34 33
  • 89.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dzip3 16 34 33
  • 86.02 (n)
rat
(Rattus norvegicus)
Mammalia Dzip3 33
  • 84.91 (n)
oppossum
(Monodelphis domestica)
Mammalia DZIP3 34
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 19 (a)
ManyToMany
Species where no ortholog for DZIP3 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • 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)
  • zebrafish (Danio rerio)

Evolution for DZIP3 Gene

ENSEMBL:
Gene Tree for DZIP3 (if available)
TreeFam:
Gene Tree for DZIP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DZIP3: view image

Paralogs for DZIP3 Gene

Paralogs for DZIP3 Gene

genes like me logo Genes that share paralogs with DZIP3: view

Variants for DZIP3 Gene

Sequence variations from dbSNP and Humsavar for DZIP3 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000015016 -- 108,657,175(+) A/C intron_variant
rs1000015660 -- 108,612,032(+) T/C intron_variant
rs1000016068 -- 108,597,156(+) T/ genic_upstream_transcript_variant, intron_variant
rs1000048790 -- 108,630,732(+) A/T intron_variant
rs1000090068 -- 108,655,670(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DZIP3 Gene

Variant ID Type Subtype PubMed ID
esv24174 CNV loss 19812545
esv2669006 CNV deletion 23128226
esv2725755 CNV deletion 23290073
esv3597328 CNV loss 21293372
nsv1000665 CNV loss 25217958
nsv1011158 CNV gain 25217958
nsv478699 CNV novel sequence insertion 20440878
nsv829658 CNV gain 17160897
nsv829659 CNV gain 17160897

Variation tolerance for DZIP3 Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 63.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DZIP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DZIP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DZIP3 Gene

Disorders for DZIP3 Gene

Additional Disease Information for DZIP3

No disorders were found for DZIP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DZIP3 Gene

Publications for DZIP3 Gene

  1. hRUL138, a novel human RNA-binding RING-H2 ubiquitin-protein ligase. (PMID: 12538761) Kreft SG … Nassal M (Journal of cell science 2003) 2 3 4 58
  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. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. (PMID: 12511597) Moore FL … Pera RA (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 58

Products for DZIP3 Gene

Sources for DZIP3 Gene

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