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Aliases for PDZRN3 Gene

Aliases for PDZRN3 Gene

  • PDZ Domain Containing Ring Finger 3 2 3 5
  • Likely Ortholog Of Mouse SemaF Cytoplasmic Domain Associated Protein 3 2 3
  • Semaphorin Cytoplasmic Domain-Associated Protein 3 3 4
  • RING-Type E3 Ubiquitin Transferase PDZRN3 3 4
  • Ligand Of Numb Protein X 3 3 4
  • SEMCAP3 3 4
  • LNX3 3 4
  • PDZ Domain-Containing RING Finger Protein 3 4
  • E3 Ubiquitin-Protein Ligase PDZRN3 3
  • Protein SEMACAP3 4
  • EC 2.3.2.27 4
  • SEMACAP3 3
  • KIAA1095 4

External Ids for PDZRN3 Gene

Previous GeneCards Identifiers for PDZRN3 Gene

  • GC03M073353
  • GC03M073514

Summaries for PDZRN3 Gene

Entrez Gene Summary for PDZRN3 Gene

  • This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for PDZRN3 Gene

PDZRN3 (PDZ Domain Containing Ring Finger 3) is a Protein Coding gene. GO annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is PDZRN4.

UniProtKB/Swiss-Prot for PDZRN3 Gene

  • E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation.

Gene Wiki entry for PDZRN3 Gene

Additional gene information for PDZRN3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDZRN3 Gene

Genomics for PDZRN3 Gene

Regulatory Elements for PDZRN3 Gene

Enhancers for PDZRN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H073508 1 Ensembl ENCODE dbSUPER 24.1 +113.2 113165 5 OSR2 CTCF HNF1A NFIA YY1 PDZRN3 RNU7-119P LOC101927296 PIR42683
GH03H073516 0.8 ENCODE dbSUPER 28.9 +108.0 108034 1 FOXA2 FEZF1 ZNF2 NR2F2 PDZRN3 LOC101927296 PIR42683
GH03H073502 1.2 Ensembl ENCODE dbSUPER 17.3 +121.4 121364 2 CTCF ZBTB21 RAD21 POLR2A SMC3 ZNF143 RCOR1 MAFK IKZF2 ZNF654 PDZRN3 RNU2-64P PIR42683 LOC101927296
GH03H073490 1.3 Ensembl ENCODE dbSUPER 15 +133.7 133732 2 LEF1 PKNOX1 TFAP4 ARNT FEZF1 ZIC2 ZNF7 FOXM1 CTBP1 ZNF316 PDZRN3 PIR42683 GC03M073470
GH03H073545 1 Ensembl ENCODE dbSUPER 17.1 +77.1 77089 4 JUND POLR2A FOS ELF1 PDZRN3 RNU7-119P RNU6-1270P PIR59833 LOC101927296
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDZRN3 on UCSC Golden Path with GeneCards custom track

Promoters for PDZRN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000154675 540 2801 CTCF LEF1 MXI1 ZNF777 SUZ12 CHD7 RAD21 ZIC2 ZNF664 POLR2A

Genomic Location for PDZRN3 Gene

Chromosome:
3
Start:
73,382,430 bp from pter
End:
73,624,940 bp from pter
Size:
242,511 bases
Orientation:
Minus strand

Genomic View for PDZRN3 Gene

Genes around PDZRN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDZRN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDZRN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDZRN3 Gene

Proteins for PDZRN3 Gene

  • Protein details for PDZRN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPQ7-PZRN3_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase PDZRN3
    Protein Accession:
    Q9UPQ7
    Secondary Accessions:
    • A7MCZ6
    • Q8N2N7
    • Q96CC2
    • Q9NSQ2

    Protein attributes for PDZRN3 Gene

    Size:
    1066 amino acids
    Molecular mass:
    119596 Da
    Quaternary structure:
    • Interacts with NLGN1 and EFNB2. Interacts with UBE2D2 and with MUSK via the first PDZ domain.
    SequenceCaution:
    • Sequence=BAA83047.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11068.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PDZRN3 Gene

    Alternative splice isoforms for PDZRN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDZRN3 Gene

Post-translational modifications for PDZRN3 Gene

No data available for DME Specific Peptides for PDZRN3 Gene

Domains & Families for PDZRN3 Gene

Gene Families for PDZRN3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPQ7

UniProtKB/Swiss-Prot:

PZRN3_HUMAN :
  • The RING-type zinc finger domain is required for E3 ligase activity.
Domain:
  • The RING-type zinc finger domain is required for E3 ligase activity.
genes like me logo Genes that share domains with PDZRN3: view

Function for PDZRN3 Gene

Molecular function for PDZRN3 Gene

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.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation.

Enzyme Numbers (IUBMB) for PDZRN3 Gene

Phenotypes From GWAS Catalog for PDZRN3 Gene

Gene Ontology (GO) - Molecular Function for PDZRN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity ISS --
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IEA --
genes like me logo Genes that share ontologies with PDZRN3: view
genes like me logo Genes that share phenotypes with PDZRN3: view

Animal Model Products

CRISPR Products

miRNA for PDZRN3 Gene

miRTarBase miRNAs that target PDZRN3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PDZRN3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PDZRN3 Gene

Localization for PDZRN3 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 PDZRN3 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDZRN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0031594 neuromuscular junction IBA --
genes like me logo Genes that share ontologies with PDZRN3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PDZRN3 Gene

Pathways & Interactions for PDZRN3 Gene

SuperPathways for PDZRN3 Gene

No Data Available

UniProtKB/Swiss-Prot Q9UPQ7-PZRN3_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for PDZRN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007528 neuromuscular junction development IBA --
GO:0016567 protein ubiquitination ISS --
genes like me logo Genes that share ontologies with PDZRN3: view

No data available for Pathways by source and SIGNOR curated interactions for PDZRN3 Gene

Drugs & Compounds for PDZRN3 Gene

No Compound Related Data Available

Transcripts for PDZRN3 Gene

Unigene Clusters for PDZRN3 Gene

PDZ domain containing ring finger 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PDZRN3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PDZRN3 Gene

No ASD Table

Relevant External Links for PDZRN3 Gene

GeneLoc Exon Structure for
PDZRN3
ECgene alternative splicing isoforms for
PDZRN3

Expression for PDZRN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDZRN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDZRN3 Gene

This gene is overexpressed in Gallbladder (43.3) and Adipocyte (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PDZRN3 Gene



NURSA nuclear receptor signaling pathways regulating expression of PDZRN3 Gene:

PDZRN3

SOURCE GeneReport for Unigene cluster for PDZRN3 Gene:

Hs.743998

mRNA Expression by UniProt/SwissProt for PDZRN3 Gene:

Q9UPQ7-PZRN3_HUMAN
Tissue specificity: Widely expressed, including in the heart, skeletal muscle and liver and, at lower levels, in the brain, colon, small intestine, placenta and lung. Down-regulated in ovarian serous papillary tumors.

Evidence on tissue expression from TISSUES for PDZRN3 Gene

  • Nervous system(4.6)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with PDZRN3: view

Primer Products

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 PDZRN3 Gene

Orthologs for PDZRN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDZRN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDZRN3 33 34
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia PDZRN3 33 34
  • 90.6 (n)
mouse
(Mus musculus)
Mammalia Pdzrn3 33 16 34
  • 88.61 (n)
rat
(Rattus norvegicus)
Mammalia Pdzrn3 33
  • 88.58 (n)
oppossum
(Monodelphis domestica)
Mammalia PDZRN3 34
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDZRN3 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDZRN3 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDZRN3 33 34
  • 78.07 (n)
lizard
(Anolis carolinensis)
Reptilia PDZRN3 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdzrn3 33
  • 72.96 (n)
zebrafish
(Danio rerio)
Actinopterygii pdzrn3b 33 34
  • 70.13 (n)
pdzrn3a 34
  • 50 (a)
OneToMany
Dr.5264 33
fruit fly
(Drosophila melanogaster)
Insecta Slip1 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C50F7.6 34
  • 22 (a)
OneToMany
Species where no ortholog for PDZRN3 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PDZRN3 Gene

ENSEMBL:
Gene Tree for PDZRN3 (if available)
TreeFam:
Gene Tree for PDZRN3 (if available)

Paralogs for PDZRN3 Gene

Paralogs for PDZRN3 Gene

genes like me logo Genes that share paralogs with PDZRN3: view

Variants for PDZRN3 Gene

Sequence variations from dbSNP and Humsavar for PDZRN3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs748809996 Likely pathogenic 73,602,452(+) TCCAT(C/T)GTGGT reference, missense
rs1000037222 -- 73,579,565(+) ATTTT(C/G)GATGA intron-variant
rs1000042584 -- 73,463,864(+) GGTGA(G/T)GAAAT intron-variant
rs1000090224 -- 73,517,165(+) TACAG(A/T)GGAAA intron-variant
rs1000094196 -- 73,573,009(+) GTGCC(A/G)GAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDZRN3 Gene

Variant ID Type Subtype PubMed ID
esv24230 CNV loss 19812545
esv3310131 CNV mobile element insertion 20981092
esv3381647 CNV insertion 20981092
esv3596558 CNV loss 21293372
nsv236186 CNV deletion 16902084
nsv3878 CNV insertion 18451855
nsv520326 CNV loss 19592680
nsv525749 CNV loss 19592680
nsv526832 CNV gain 19592680
nsv590636 CNV gain 21841781
nsv590637 CNV gain+loss 21841781
nsv590638 CNV loss 21841781
nsv590639 CNV gain 21841781
nsv834730 CNV loss 17160897
nsv834731 CNV gain 17160897

Variation tolerance for PDZRN3 Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.23; 81.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDZRN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDZRN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDZRN3 Gene

Disorders for PDZRN3 Gene

Relevant External Links for PDZRN3

Genetic Association Database (GAD)
PDZRN3
Human Genome Epidemiology (HuGE) Navigator
PDZRN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDZRN3

No disorders were found for PDZRN3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PDZRN3 Gene

Publications for PDZRN3 Gene

  1. PDZRN3 (LNX3, SEMCAP3) is required for the differentiation of C2C12 myoblasts into myotubes. (PMID: 17118964) Ko JA … Inui M (Journal of cell science 2006) 3 4 22 60
  2. Identification and characterization of PDZRN3 and PDZRN4 genes in silico. (PMID: 15010864) Katoh M … Katoh M (International journal of molecular medicine 2004) 3 4 22 60
  3. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 60
  4. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PMID: 21546767) Murea M … Freedman BI (American journal of nephrology 2011) 3 45 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for PDZRN3 Gene

Sources for PDZRN3 Gene

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