UBR3 ubiquitin protein ligase E3 component n-recognin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBR3provided by HGNC
Official Full Name: ubiquitin protein ligase E3 component n-recognin 3provided by HGNC
Primary source: HGNC:HGNC:30467
See related: Ensembl:ENSG00000144357 MIM:613831; AllianceGenome:HGNC:30467
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZNF650
Summary: Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including sensory perception of smell; suckling behavior; and ubiquitin-dependent protein catabolic process via the N-end rule pathway. Predicted to act upstream of or within in utero embryonic development and olfactory behavior. Predicted to be located in membrane. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 13.7), thyroid (RPKM 11.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (169827454..170084131)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (170305020..170561615)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (170683964..170940641)

Chromosome 2 - NC_000002.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study.
Title: Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study.
UBR3 promotes inflammation and apoptosis via DUSP1/p38 pathway in the nucleus pulposus cells of patients with intervertebral disc degeneration.
Title: UBR3 promotes inflammation and apoptosis via DUSP1/p38 pathway in the nucleus pulposus cells of patients with intervertebral disc degeneration.
UBR3/6 regulate cardiomyocyte Nav 1.5 channel protein levels via the ubiquitin-proteasome pathway.
Title: Cardiac Nav 1.5 is modulated by ubiquitin protein ligase E3 component n-recognin UBR3 and 6.
The human E3 ubiquitin ligase UBR3 has a major activity that polyubiquitylates APE1 at multiple lysine residues clustered on the N-terminal tail.
Title: Ubiquitin ligase UBR3 regulates cellular levels of the essential DNA repair protein APE1 and is required for genome stability.
Observational study of gene-disease association. (HuGE Navigator)
Title: Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	The interaction of Vpr with DDB1 facilitates the formation of complexes containing Cul4A-Roc1 E3 ubiquitin ligase. The association of Vpr with DDB1-containing E3 ligase mediates the degradation of UNG2 and SMUG1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_11813-11814:1029266043:1 (e-PCR)
- UniSTS:267269

D2S1316 (e-PCR)
- UniSTS:68359

RH124011 (e-PCR)
- UniSTS:136221

G60007 (e-PCR)
- UniSTS:137275

RH70936 (e-PCR)
- UniSTS:38239

RH45361 (e-PCR)
- UniSTS:67952

SGC38024 (e-PCR)
- UniSTS:22154

G62540 (e-PCR)
- UniSTS:139667

RH93598 (e-PCR)
- UniSTS:91540

G63584 (e-PCR)
- UniSTS:140695

SHGC-35469 (e-PCR)
- UniSTS:67040

D2S2775 (e-PCR)
- UniSTS:50428

Clone Names

FLJ37422, KIAA2024, MGC126489, DKFZp434P117, DKFZp686N10185

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in embryo development ending in birth or egg hatching	ISS Inferred from Sequence or Structural Similarity more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IEA Inferred from Electronic Annotation more info
involved_in olfactory behavior	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of smell	ISS Inferred from Sequence or Structural Similarity more info
involved_in suckling behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquitin-dependent protein catabolic process via the N-end rule pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase UBR3

Names: N-recognin-3; RING-type E3 ubiquitin transferase UBR3; ubiquitin protein ligase E3 component n-recognin 3 (putative); ubiquitin-protein ligase E3-alpha-3; ubiquitin-protein ligase E3-alpha-III; zinc finger protein 650

NP_742067.3

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.