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FLASH GENE

Symbol

PLD3

contributors: mct - updated : 11-04-2022

HGNC name	phospholipase D3
HGNC id	17158

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	29.79 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	extensive alternative splicing in the 5' untranslated region

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001031696 13 - 1913 NP_001026866 - 490 - 2021 33830999 NM_012268 13 - 2137 NP_036400 - 490 - 2021 33830999 NM_001291311 13 - 2117 NP_001278240 - 490 - 2021 33830999

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive stomach       highly Nervous brain       predominantly Homo sapiens Reproductive female system breast         female system ovary     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Pld3

Homologene

FAMILY

phospholipase D superfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	having a type 2 transmembrane topology

basic FUNCTION	phospholipase activity
	may have a house-keeping function
	in response to ARF, alters the lipid content of membranes, converting phospholipids into phosphatidic acid
	plays likely a role in myogenesis during myotube formation, potentially in the events surrounding ER reorganization
	PLD3, PLD4 are needed to regulate inflammatory cytokine responses via the degradation of nucleic acids
	PLD3 has phospholipase D activity in lysosomes
	PLD3 and PLD4 are endosomal exonucleases that regulate the innate immune response by digesting the ligands of nucleic acid sensors

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

PLD3 protein may contribute to Alzheimer's disease (AD) development by modifying APP processing

cell & other

REGULATION

activated by

ADP ribosylation factor (ARF)

Other

brefeldin blocks PLD3 activation

ASSOCIATED DISORDERS

corresponding disease(s)

SCA46

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in Alzheimer disease (AD) brains, which was negatively correlated with amyloid precursor protein (APP) and amyloid-beta (Abeta) levels constitutional     --low   in the human hippocampus in AD cases compared to controls

Susceptibility

to Alzheimer's disease (AD)

Variant & Polymorphism other	coding variant confers increased risk for the development of Alzheimer's disease (AD)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer targeting PLD3 may provide new opportunities for AD therapeutic strategies

ANIMAL & CELL MODELS