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Protein

Phospholipase D3

Gene

PLD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Enzyme and pathway databases

BioCyciZFISH:HS02695-MONOMER.
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

HGNCiHGNC:17158. PLD3.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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).

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...)1 Publication1
Glycosylationi132N-linked (GlcNAc...)1 Publication1

Post-translational modificationi

Glycosylated.2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8IV08.
MaxQBiQ8IV08.
PaxDbiQ8IV08.
PeptideAtlasiQ8IV08.
PRIDEiQ8IV08.
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. 24 interactors.
IntActiQ8IV08. 20 interactors.
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
Contains 2 PLD phosphodiesterase domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR032803. PLDc_3.
IPR001736. PLipase_D/transphosphatidylase.
[Graphical view]
PfamiPF00614. PLDc. 1 hit.
PF13918. PLDc_3. 1 hit.
[Graphical view]
SMARTiSM00155. PLDc. 2 hits.
[Graphical view]
PROSITEiPS50035. PLD. 2 hits.
[Graphical view]

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 → S.1 PublicationCorresponds to variant rs142070038dbSNPEnsembl.1
Natural variantiVAR_07590676P → A.1 PublicationCorresponds to variant rs138674695dbSNPEnsembl.1
Natural variantiVAR_075907159V → M.1 PublicationCorresponds to variant rs374184677dbSNPEnsembl.1
Natural variantiVAR_075908162R → C.1 Publication1
Natural variantiVAR_075909173P → S.1 Publication1
Natural variantiVAR_075910175A → G.1 Publication1
Natural variantiVAR_075911188R → C.1 Publication1
Natural variantiVAR_075912222R → H.1 PublicationCorresponds to variant rs765630414dbSNPEnsembl.1
Natural variantiVAR_071186232V → M Found in Alzheimer disease patients at higher frequency compared to controls; unknown pathological significance. 4 PublicationsCorresponds to variant rs145999145dbSNPEnsembl.1
Natural variantiVAR_075913242R → Q.1 PublicationCorresponds to variant rs757965784dbSNPEnsembl.1
Natural variantiVAR_075914249E → G.1 PublicationCorresponds to variant rs746715924dbSNPEnsembl.1
Natural variantiVAR_075915272R → C.1 PublicationCorresponds to variant rs144312764dbSNPEnsembl.1
Natural variantiVAR_075916284N → S.1 PublicationCorresponds to variant rs200274020dbSNPEnsembl.1
Natural variantiVAR_075917293A → V.1 PublicationCorresponds to variant rs368737000dbSNPEnsembl.1
Natural variantiVAR_075918297P → L.1 Publication1
Natural variantiVAR_075919300C → Y.1 PublicationCorresponds to variant rs146083475dbSNPEnsembl.1
Natural variantiVAR_075920308L → P.1 PublicationCorresponds to variant rs537053537dbSNPEnsembl.1
Natural variantiVAR_075921358V → I.1 PublicationCorresponds to variant rs370488565dbSNPEnsembl.1
Natural variantiVAR_075922426T → A.1 PublicationCorresponds to variant rs745463234dbSNPEnsembl.1
Natural variantiVAR_075923429G → R.1 Publication1

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8IV08.
SMRiQ8IV08.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117173. 24 interactors.
IntActiQ8IV08. 20 interactors.
STRINGi9606.ENSP00000348901.

PTM databases

iPTMnetiQ8IV08.
PhosphoSitePlusiQ8IV08.

Polymorphism and mutation databases

BioMutaiPLD3.
DMDMi74750647.

Proteomic databases

EPDiQ8IV08.
MaxQBiQ8IV08.
PaxDbiQ8IV08.
PeptideAtlasiQ8IV08.
PRIDEiQ8IV08.
TopDownProteomicsiQ8IV08.

Protocols and materials databases

DNASUi23646.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi23646.
DisGeNETi23646.
GeneCardsiPLD3.
HGNCiHGNC:17158. PLD3.
HPAiCAB020812.
HPA012800.
MalaCardsiPLD3.
MIMi615698. gene.
neXtProtiNX_Q8IV08.
OpenTargetsiENSG00000105223.
PharmGKBiPA134887482.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:HS02695-MONOMER.
ReactomeiR-HSA-1483148. Synthesis of PG.
R-HSA-2029485. Role of phospholipids in phagocytosis.

Miscellaneous databases

ChiTaRSiPLD3. human.
GenomeRNAii23646.
PROiQ8IV08.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105223.
CleanExiHS_PLD3.
ExpressionAtlasiQ8IV08. baseline and differential.
GenevisibleiQ8IV08. HS.

Family and domain databases

InterProiIPR032803. PLDc_3.
IPR001736. PLipase_D/transphosphatidylase.
[Graphical view]
PfamiPF00614. PLDc. 1 hit.
PF13918. PLDc_3. 1 hit.
[Graphical view]
SMARTiSM00155. PLDc. 2 hits.
[Graphical view]
PROSITEiPS50035. PLD. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPLD3_HUMAN
AccessioniPrimary (citable) accession number: Q8IV08
Secondary accession number(s): Q92853, Q9BW87
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 1, 2003
Last modified: November 2, 2016
This is version 122 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.