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MGP004730

UniProt Annotations

Entry Information
Gene Namephospholipase D family, member 3
Protein EntryPLD3_HUMAN
UniProt IDQ8IV08
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityA phosphatidylcholine + H(2)O = choline + a phosphatidate.
DiseaseAlzheimer disease 19 (AD19) [MIM:615711]: A late-onset form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C- terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. {ECO:0000269|PubMed:24336208}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionProbably involved in APP processing. {ECO:0000269|PubMed:24336208}.
InteractionP19838:NFKB1; NbExp=2; IntAct=EBI-2689908, EBI-300010;
PtmGlycosylated. {ECO:0000269|PubMed:15794758, ECO:0000269|PubMed:19159218}.
Sequence CautionSequence=AAB16799.1; Type=Frameshift; Positions=52; Evidence={ECO:0000305};
SimilarityBelongs to the phospholipase D family. {ECO:0000305}.
SimilarityContains 2 PLD phosphodiesterase domains. {ECO:0000255|PROSITE-ProRule:PRU00153}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:15794758}; Single-pass type II membrane protein {ECO:0000269|PubMed:15794758}.
SubunitInteracts with APP. {ECO:0000269|PubMed:24336208}.
Tissue SpecificityWidely expressed. In the brain, high levels of expression are detected in the frontal, temporal and occipital cortices and hippocampus. Expressed at low level in corpus callosum. {ECO:0000269|PubMed:15794758, ECO:0000269|PubMed:24336208}.
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