PLD3
5'-3' exonuclease PLD3
Also known as: HU-K4, PLD3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IV08
- Gene
- PLD3
- Ensembl
- ENSG00000105223
- Chromosome
- 19
- Canonical length
- 490 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Endoplasmic reticulum,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI 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 influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]
Canonical amino-acid sequenceUniProt
490 residues, UniProt reviewed canonical sequence.
>Q8IV08|PLD3
1 MKPKLMYQEL KVPAEEPANE LPMNEIEAWK AAEKKARWVL LVLILAVVGF GALMTQLFLW
61 EYGDLHLFGP NQRPAPCYDP CEAVLVESIP EGLDFPNAST GNPSTSQAWL GLLAGAHSSL
121 DIASFYWTLT NNDTHTQEPS AQQGEEVLRQ LQTLAPKGVN VRIAVSKPSG PQPQADLQAL
181 LQSGAQVRMV DMQKLTHGVL HTKFWVVDQT HFYLGSANMD WRSLTQVKEL GVVMYNCSCL
241 ARDLTKIFEA YWFLGQAGSS IPSTWPRFYD TRYNQETPME ICLNGTPALA YLASAPPPLC
301 PSGRTPDLKA LLNVVDNARS FIYVAVMNYL PTLEFSHPHR FWPAIDDGLR RATYERGVKV
361 RLLISCWGHS EPSMRAFLLS LAALRDNHTH SDIQVKLFVV PADEAQARIP YARVNHNKYM
421 VTERATYIGT SNWSGNYFTE TAGTSLLVTQ NGRGGLRSQL EAIFLRDWDS PYSHDLDTSA
481 DSVGNACRLLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLD3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 672 nTPM
Expression across tissuesHPA
Tissue
- pituitary gland: 672 nTPM
- hypothalamus: 391 nTPM
- cerebral cortex: 359 nTPM
- basal ganglia: 278 nTPM
- hippocampal formation: 261 nTPM
- blood vessel: 249 nTPM
Single-cell type
- gonadotrophs: 902 nCPM
- hofbauer cells: 672 nCPM
- kupffer cells: 416 nCPM
- alveolar cells type 2: 319 nCPM
- macrophages: 290 nCPM
- corticotrophs: 255 nCPM
Immune cell
- basophil: 1,768 nTPM
- eosinophil: 380 nTPM
- classical monocyte: 256 nTPM
- myeloid DC: 228 nTPM
- total PBMC: 206 nTPM
- intermediate monocyte: 127 nTPM
Brain region
- hypothalamus: 748 nTPM
- cerebral cortex: 529 nTPM
- hippocampal formation: 508 nTPM
- basal ganglia: 436 nTPM
- pons: 409 nTPM
- midbrain: 397 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLD3.
Disease | AllUniProt
Conditions PLD3 is implicated in, by any mechanism.
- Spinocerebellar ataxia 46 (SCA46) MIM:617770
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 229 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spinocerebellar ataxia 46
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.77
- gnomAD pLI
- 0
- gnomAD missense Z
- 1
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- immune system process
- inflammatory response
- lipid metabolic process
- myotube differentiation
- regulation of cytokine production involved in inflammatory response
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PLD3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PLD3 as an antibody target. Whether an autoantibody or antibody against PLD3 could matter depends on whether native PLD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLD3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PLD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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