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Protein Coding Gene : Prkn parkin RBR E3 ubiquitin protein ligase

Primary Identifier  MGI:1355296 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  50873
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables ubiquitin protein ligase activity. Involved in several processes, including negative regulation of intrinsic apoptotic signaling pathway; positive regulation of dendrite extension; and positive regulation of protein linear polyubiquitination. Acts upstream of or within several processes, including catecholamine metabolic process; chemical synaptic transmission; and mitophagy. Located in mitochondrion; neuron projection; and nucleus. Part of protein-containing complex. Is active in dopaminergic synapse. Is expressed in several structures, including face; nervous system; pancreas; sensory organ; and skeleton. Used to study Parkinson's disease 2. Human ortholog(s) of this gene implicated in Parkinson's disease; Parkinson's disease 2; and ovarian cancer. Orthologous to human PRKN (parkin RBR E3 ubiquitin protein ligase).
PHENOTYPE: Dopamine and glutatamate transmission are impaired in some targeted null mice, resulting in decreased exploratory behavior. These mice show decreased body weight and temperature. Park2 is inactivated as part of a large deletion in the quaking mouse, a dysmyelinating mutant with a pronounced tremor. [provided by MGI curators]
  • synonyms:
  • parkin RBR E3 ubiquitin protein ligase,
  • PRKN,
  • Parkinson disease (autosomal recessive, juvenile) 2, parkin,
  • Park2,
  • Parkin,
  • Prkn

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

6 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

18 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For