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Protein

Phospholipase D3

Gene

PLD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May be involved in APP processing.1 Publication

Catalytic activityi

A phosphatidylcholine + H2O = choline + a phosphatidate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei201PROSITE-ProRule annotation1
Active sitei203PROSITE-ProRule annotation1
Active sitei208PROSITE-ProRule annotation1

GO - Molecular functioni

  • N-acylphosphatidylethanolamine-specific phospholipase D activity Source: UniProtKB-EC
  • phospholipase D activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-1483148 Synthesis of PG
R-HSA-2029485 Role of phospholipids in phagocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
Phospholipase D3 (EC:3.1.4.4)
Short name:
PLD 3
Alternative name(s):
Choline phosphatase 3
HindIII K4L homolog
Hu-K4
Phosphatidylcholine-hydrolyzing phospholipase D3
Gene namesi
Name:PLD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105223.19
HGNCiHGNC:17158 PLD3
MIMi615698 gene
neXtProtiNX_Q8IV08

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 38CytoplasmicSequence analysisAdd BLAST38
Transmembranei39 – 59Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini60 – 490LumenalSequence analysisAdd BLAST431

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Genetic variants in PLD3 have been suggested to be associated with an increased risk for Alzheimer disease (PubMed:24336208, PubMed:25832409). Further studies, however, did not support PLD3 involvement in this disease (PubMed:25832408, PubMed:25832411, PubMed:25832413, PubMed:25832410, PubMed:26411346).7 Publications

Organism-specific databases

DisGeNETi23646
MalaCardsiPLD3
OpenTargetsiENSG00000105223
PharmGKBiPA134887482

Polymorphism and mutation databases

BioMutaiPLD3
DMDMi74750647

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002803261 – 490Phospholipase D3Add BLAST490

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi97N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi132N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

Glycosylated.2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8IV08
MaxQBiQ8IV08
PaxDbiQ8IV08
PeptideAtlasiQ8IV08
PRIDEiQ8IV08
ProteomicsDBi70639
TopDownProteomicsiQ8IV08

PTM databases

iPTMnetiQ8IV08
PhosphoSitePlusiQ8IV08

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000105223
CleanExiHS_PLD3
ExpressionAtlasiQ8IV08 baseline and differential
GenevisibleiQ8IV08 HS

Organism-specific databases

HPAiCAB020812
HPA012800

Interactioni

Subunit structurei

Interacts with APP.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
NFKB1P198382EBI-2689908,EBI-300010

Protein-protein interaction databases

BioGridi117173, 25 interactors
IntActiQ8IV08, 25 interactors
MINTiQ8IV08
STRINGi9606.ENSP00000348901

Structurei

3D structure databases

ProteinModelPortaliQ8IV08
SMRiQ8IV08
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini196 – 223PLD phosphodiesterase 1PROSITE-ProRule annotationAdd BLAST28
Domaini411 – 437PLD phosphodiesterase 2PROSITE-ProRule annotationAdd BLAST27

Sequence similaritiesi

Belongs to the phospholipase D family.Curated

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3603 Eukaryota
ENOG410XQZ4 LUCA
GeneTreeiENSGT00390000009798
HOGENOMiHOG000293407
HOVERGENiHBG052880
InParanoidiQ8IV08
KOiK16860
OMAiTHFIPNT
OrthoDBiEOG091G07LR
PhylomeDBiQ8IV08
TreeFamiTF313378

Family and domain databases

InterProiView protein in InterPro
IPR032803 PLDc_3
IPR001736 PLipase_D/transphosphatidylase
PfamiView protein in Pfam
PF00614 PLDc, 1 hit
PF13918 PLDc_3, 1 hit
SMARTiView protein in SMART
SM00155 PLDc, 2 hits
PROSITEiView protein in PROSITE
PS50035 PLD, 2 hits

Sequencei

Sequence statusi: Complete.

Q8IV08-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKPKLMYQEL KVPAEEPANE LPMNEIEAWK AAEKKARWVL LVLILAVVGF
60 70 80 90 100
GALMTQLFLW EYGDLHLFGP NQRPAPCYDP CEAVLVESIP EGLDFPNAST
110 120 130 140 150
GNPSTSQAWL GLLAGAHSSL DIASFYWTLT NNDTHTQEPS AQQGEEVLRQ
160 170 180 190 200
LQTLAPKGVN VRIAVSKPSG PQPQADLQAL LQSGAQVRMV DMQKLTHGVL
210 220 230 240 250
HTKFWVVDQT HFYLGSANMD WRSLTQVKEL GVVMYNCSCL ARDLTKIFEA
260 270 280 290 300
YWFLGQAGSS IPSTWPRFYD TRYNQETPME ICLNGTPALA YLASAPPPLC
310 320 330 340 350
PSGRTPDLKA LLNVVDNARS FIYVAVMNYL PTLEFSHPHR FWPAIDDGLR
360 370 380 390 400
RATYERGVKV RLLISCWGHS EPSMRAFLLS LAALRDNHTH SDIQVKLFVV
410 420 430 440 450
PADEAQARIP YARVNHNKYM VTERATYIGT SNWSGNYFTE TAGTSLLVTQ
460 470 480 490
NGRGGLRSQL EAIFLRDWDS PYSHDLDTSA DSVGNACRLL
Length:490
Mass (Da):54,705
Last modified:March 1, 2003 - v1
Checksum:i444EC4D02F5610F1
GO

Sequence cautioni

The sequence AAB16799 differs from that shown. Reason: Frameshift at position 52.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti473S → I in AAB16799 (PubMed:9140189).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07590563G → S1 PublicationCorresponds to variant dbSNP:rs142070038Ensembl.1
Natural variantiVAR_07590676P → A1 PublicationCorresponds to variant dbSNP:rs138674695Ensembl.1
Natural variantiVAR_075907159V → M1 PublicationCorresponds to variant dbSNP:rs374184677Ensembl.1
Natural variantiVAR_075908162R → C1 Publication1
Natural variantiVAR_075909173P → S1 Publication1
Natural variantiVAR_075910175A → G1 Publication1
Natural variantiVAR_075911188R → C1 Publication1
Natural variantiVAR_075912222R → H1 PublicationCorresponds to variant dbSNP:rs765630414Ensembl.1
Natural variantiVAR_071186232V → M Found in Alzheimer disease patients at higher frequency compared to controls; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs145999145EnsemblClinVar.1
Natural variantiVAR_075913242R → Q1 PublicationCorresponds to variant dbSNP:rs757965784Ensembl.1
Natural variantiVAR_075914249E → G1 PublicationCorresponds to variant dbSNP:rs746715924Ensembl.1
Natural variantiVAR_075915272R → C1 PublicationCorresponds to variant dbSNP:rs144312764Ensembl.1
Natural variantiVAR_075916284N → S1 PublicationCorresponds to variant dbSNP:rs200274020Ensembl.1
Natural variantiVAR_075917293A → V1 PublicationCorresponds to variant dbSNP:rs368737000Ensembl.1
Natural variantiVAR_075918297P → L1 Publication1
Natural variantiVAR_075919300C → Y1 PublicationCorresponds to variant dbSNP:rs146083475Ensembl.1
Natural variantiVAR_075920308L → P1 PublicationCorresponds to variant dbSNP:rs537053537EnsemblClinVar.1
Natural variantiVAR_075921358V → I1 PublicationCorresponds to variant dbSNP:rs370488565Ensembl.1
Natural variantiVAR_075922426T → A1 PublicationCorresponds to variant dbSNP:rs745463234Ensembl.1
Natural variantiVAR_075923429G → R1 PublicationCorresponds to variant dbSNP:rs986006936Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60644 mRNA Translation: AAB16799.1 Frameshift.
BC000553 mRNA Translation: AAH00553.2
BC036327 mRNA Translation: AAH36327.1
BC096820 mRNA Translation: AAH96820.1
CCDSiCCDS33027.1
RefSeqiNP_001026866.1, NM_001031696.3
NP_001278240.1, NM_001291311.1
NP_036400.2, NM_012268.3
XP_005258761.1, XM_005258704.1
XP_005258764.1, XM_005258707.4
XP_005258765.1, XM_005258708.3
XP_005258766.1, XM_005258709.4
XP_005258767.1, XM_005258710.4
XP_006723185.1, XM_006723122.1
XP_011524994.1, XM_011526692.1
XP_011524995.1, XM_011526693.1
XP_016882035.1, XM_017026546.1
XP_016882036.1, XM_017026547.1
XP_016882037.1, XM_017026548.1
XP_016882038.1, XM_017026549.1
UniGeneiHs.257008

Genome annotation databases

EnsembliENST00000356508; ENSP00000348901; ENSG00000105223
ENST00000409281; ENSP00000387022; ENSG00000105223
ENST00000409419; ENSP00000386293; ENSG00000105223
ENST00000409587; ENSP00000387050; ENSG00000105223
ENST00000409735; ENSP00000386938; ENSG00000105223
GeneIDi23646
KEGGihsa:23646
UCSCiuc002onj.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPLD3_HUMAN
AccessioniPrimary (citable) accession number: Q8IV08
Secondary accession number(s): Q92853, Q9BW87
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 1, 2003
Last modified: June 20, 2018
This is version 132 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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