Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23646
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholipase D family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLD3
Synonyms (NCBI Gene) Gene synonyms aliases
AD19, HU-K4, HUK4, SCA46
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein in
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017099 hsa-miR-335-5p Microarray 18185580
MIRT051205 hsa-miR-16-5p CLASH 23622248
MIRT044846 hsa-miR-320a CLASH 23622248
MIRT044846 hsa-miR-320a CLASH 23622248
MIRT042303 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 29368044
GO:0000139 Component Golgi membrane IEA
GO:0002376 Process Immune system process IEA
GO:0003824 Function Catalytic activity IEA
GO:0004518 Function Nuclease activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615698 17158 ENSG00000105223
Protein
UniProt ID Q8IV08
Protein name 5'-3' exonuclease PLD3 (EC 3.1.16.1) ((S,S)-bis(monoacylglycero)phosphate synthase PLD3) (EC 3.1.4.-) (HindIII K4L homolog) (Hu-K4) (Phospholipase D3)
Protein function 5'->3' exonuclease that hydrolyzes the phosphodiester bond of single-stranded DNA (ssDNA) and RNA molecules to form nucleoside 3'-monophosphates and 5'-end 5'-hydroxy deoxyribonucleotide/ribonucleotide fragments (PubMed:30111894, PubMed:30312375
PDB 8Q1K , 8Q1X , 8S86 , 8V5T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13918 PLDc_3 226 403 PLD-like domain Domain
Tissue specificity 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. Expressed in plasmacytoid dendritic cells and monocytes
Sequence
MKPKLMYQELKVPAEEPANELPMNEIEAWKAAEKKARWVLLVLILAVVGFGALMTQLFLW
EYGDLHLFGPNQRPAPCYDPCEAVLVESIPEGLDFPNASTGNPSTSQAWLGLLAGAHSSL
DIASFYWTLTNNDTHTQEPSAQQGEEVLRQLQTLAPKGVNVRIAVSKPSGPQPQADLQAL
LQSGAQVRMVDMQKLTHGVLHTKFWVVDQTHFYLGSANMDWRSLTQVKELGVVMYNCSCL
ARDLTKIFEAYWFLGQAGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLC
PSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAIDDGLRRATYERGVKV
RLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPAD
EAQARIPYARVNHNKYM
VTERATYIGTSNWSGNYFTETAGTSLLVTQNGRGGLRSQLEAIFLRDWDSPYSHDLDTSA
DSVGNACRLL
Sequence length 490
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycerophospholipid metabolism
Ether lipid metabolism
Metabolic pathways
  Role of phospholipids in phagocytosis
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia spinocerebellar ataxia 46 rs1317590341 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24336208, 26402410, 26411346, 28199971, 29386126, 29395285, 29750252, 30208929, 32941707, 33288674, 36516243, 37925455
Alzheimer Disease Inhibit 30208929
Breast Neoplasms Inhibit 37978168
Carcinoma Pancreatic Ductal Associate 35255936
Cognition Disorders Associate 28199971
COVID 19 Associate 33971585
Dementia Associate 29750252, 31836585
Infections Associate 10074127
Lupus Erythematosus Systemic Associate 33288674
Neoplasms Associate 37978168