Pdzrn3 PDZ domain containing RING finger 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdzrn3provided by MGI
Official Full Name: PDZ domain containing RING finger 3provided by MGI
Primary source: MGI:MGI:1933157
See related: Ensembl:ENSMUSG00000035357 AllianceGenome:MGI:1933157
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LNX3; Semcap3; SEMACAP3; 1110020C07Rik
Summary: Enables ubiquitin protein ligase activity. Involved in neuromuscular junction development and protein ubiquitination. Located in neuromuscular junction. Is expressed in several structures, including blood vessel endothelium; brain; genitourinary system; tail paraxial mesenchyme; and tibialis muscle. Orthologous to human PDZRN3 (PDZ domain containing ring finger 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in bladder adult (RPKM 23.0), ovary adult (RPKM 19.2) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 D3; 6 46.95 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (101126568..101354858, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (101149607..101377897, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Granulysin-mediated reduction of PDZRN3 induces Cx43 gap junctions activity exacerbating skin damage in trichloroethylene hypersensitivity syndrome.
Title: Granulysin-mediated reduction of PDZRN3 induces Cx43 gap junctions activity exacerbating skin damage in trichloroethylene hypersensitivity syndrome.
Targeting Pdzrn3 maintains adult blood-brain barrier and central nervous system homeostasis.
Title: Targeting Pdzrn3 maintains adult blood-brain barrier and central nervous system homeostasis.
Decrease of Pdzrn3 is required for heart maturation and protects against heart failure.
Title: Decrease of Pdzrn3 is required for heart maturation and protects against heart failure.
Proteomic analysis identifies the E3 ubiquitin ligase Pdzrn3 as a regulatory target of Wnt5a-Ror signaling.
Title: Proteomic analysis identifies the E3 ubiquitin ligase Pdzrn3 as a regulatory target of Wnt5a-Ror signaling.
PDZRN3 protects against apoptosis in myoblasts by maintaining cyclin A2 expression.
Title: PDZRN3 protects against apoptosis in myoblasts by maintaining cyclin A2 expression.
Our results thus indicate that PDZRN3 plays a key role in the differentiation of myoblasts into myotubes by regulating Id2 at both transcriptional and posttranslational levels.
Title: PDZRN3 regulates differentiation of myoblasts into myotubes through transcriptional and posttranslational control of Id2.
Findings indicate PDZRN3 regulates vascular permeability through a PKCzeta-containing complex.
Title: PDZRN3 destabilizes endothelial cell-cell junctions through a PKCζ-containing polarity complex to increase vascular permeability.
PDZRN3 is required to direct Wnt/planara cell polarity signaling in vascular morphogenesis.
Title: The ubiquitin ligase PDZRN3 is required for vascular morphogenesis through Wnt/planar cell polarity signalling.
Our results thus suggest that PDZRN3 negatively regulates adipogenesis in 3T3-L1 cells
Title: Regulation of adipocyte differentiation of 3T3-L1 cells by PDZRN3.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH128427 (e-PCR)
- UniSTS:211735

RH125416 (e-PCR)
- UniSTS:162238

AI429718 (e-PCR)
- UniSTS:179426

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in neuromuscular junction development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase PDZRN3

Names: PDZ domain containing RING finger 3A; PDZ domain-containing RING finger protein 3; RING-type E3 ubiquitin transferase PDZRN3; semaphorin cytoplasmic domain-associated protein 3; semaphorin cytoplasmic domain-associated protein 3A

NP_061372.2

EC 2.3.2.27

XP_006506468.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018884.2 → NP_061372.2 E3 ubiquitin-protein ligase PDZRN3

See identical proteins and their annotated locations for NP_061372.2

Status: VALIDATED

Source sequence(s)

AC117994, AC152954, AK143226

Consensus CDS

CCDS20392.1

UniProtKB/Swiss-Prot

Q69ZS0, Q91Z03, Q9QY54, Q9QY55

UniProtKB/TrEMBL

Q3UPS8

Related

ENSMUSP00000075376.7, ENSMUST00000075994.11

Conserved Domains (4) summary

smart00228
Location:246 → 338

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00162
Location:17 → 57

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

cd00992
Location:424 → 488

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cl19105
Location:69 → 132

Sina; Seven in absentia (Sina) protein family, C-terminal substrate binding domain; composed of the Drosophila Sina protein, the mammalian Sina homolog (Siah), the plant protein SINAT5, and similar proteins. Sina, Siah and SINAT5 are RING-containing proteins ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

101126568..101354858 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006506405.5 → XP_006506468.1 E3 ubiquitin-protein ligase PDZRN3 isoform X1

UniProtKB/TrEMBL

Q3UPS8

Conserved Domains (2) summary

cd00992
Location:141 → 205

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cl00117
Location:20 → 53

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...