ATP13A2
Gene Ontology Biological Process
Gene Ontology Molecular Function
Gene Ontology Cellular Component
RAB5A
Gene Ontology Biological Process
- GTP catabolic process [IDA]
- Rab protein signal transduction [IBA]
- blood coagulation [TAS]
- early endosome to late endosome transport [IMP]
- endocytosis [IDA]
- intracellular protein transport [IBA]
- positive regulation of exocytosis [IMP]
- receptor internalization involved in canonical Wnt signaling pathway [IMP]
- regulation of endocytosis [IBA]
- regulation of endosome size [IMP]
- regulation of filopodium assembly [IDA]
- regulation of synaptic vesicle exocytosis [IMP]
- synaptic vesicle recycling [IDA]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
- axon [ISS]
- axon terminus [ISS]
- cytoplasm [IDA]
- cytoplasmic side of early endosome membrane [IMP]
- cytosol [IDA]
- dendrite [ISS]
- early endosome [IDA]
- endocytic vesicle [IBA]
- endosome [ISS]
- endosome membrane [TAS]
- extracellular vesicular exosome [IDA]
- neuronal cell body [ISS]
- plasma membrane [IBA]
- somatodendritic compartment [IDA]
- synaptic vesicle [ISS]
- terminal bouton [IDA]
Co-localization
Interaction inferred from two proteins that co-localize in the cell by indirect immunofluorescence only when in addition, if one gene is deleted, the other protein becomes mis-localized. Also includes co-dependent association of proteins with promoter DNA in chromatin immunoprecipitation experiments.
Publication
Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.
Mutations in the ATP13A2 gene (PARK9) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome (KRS), a neurodegenerative disease characterized by parkinsonism. KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resulting in a loss-of-function. Recently, homozygous and heterozygous missense mutations in ATP13A2 have been identified in subjects with early-onset parkinsonism. The mechanism(s) by which missense mutations potentially cause parkinsonism are ... [more]
Throughput
- Low Throughput
Additional Notes
- figure 4.
Curated By
- BioGRID