InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PLD3

Summary

InnateDB Protein

IDBP-294846.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PLD3

Protein Name

phospholipase D family, member 3

Synonyms

AD19; HU-K4; HUK4;

Species

Homo sapiens

Ensembl Protein

ENSP00000386938

InnateDB Gene

IDBG-51389 (PLD3)

Protein Structure

UniProt Annotation

Function

Probably involved in APP processing. {ECO:0000269PubMed:24336208}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:15794758}; Single-pass type II membrane protein {ECO:0000269PubMed:15794758}.

Disease Associations

Alzheimer 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:0000269PubMed:24336208}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Widely 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:0000269PubMed:15794758, ECO:0000269PubMed:24336208}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004630	phospholipase D activity
GO:0005515	protein binding
GO:0070290	N-acylphosphatidylethanolamine-specific phospholipase D activity

Biological Process

GO:0006644	phospholipid metabolic process
GO:0006655	phosphatidylglycerol biosynthetic process
GO:0008152	metabolic process
GO:0016042	lipid catabolic process
GO:0044281	small molecule metabolic process
GO:0046474	glycerophospholipid biosynthetic process