PLD1
Phospholipase D1
Also known as: PLD1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13393
- Gene
- PLD1
- Ensembl
- ENSG00000075651
- Chromosome
- 3
- Canonical length
- 1074 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, RAS pathway related proteins
- Subcellular location
- Golgi apparatus,Vesicles,Plasma membrane
OverviewNCBI Gene
This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
Canonical amino-acid sequenceUniProt
1074 residues, UniProt reviewed canonical sequence.
>Q13393|PLD1
1 MSLKNEPRVN TSALQKIAAD MSNIIENLDT RELHFEGEEV DYDVSPSDPK IQEVYIPFSA
61 IYNTQGFKEP NIQTYLSGCP IKAQVLEVER FTSTTRVPSI NLYTIELTHG EFKWQVKRKF
121 KHFQEFHREL LKYKAFIRIP IPTRRHTFRR QNVREEPREM PSLPRSSENM IREEQFLGRR
181 KQLEDYLTKI LKMPMYRNYH ATTEFLDISQ LSFIHDLGPK GIEGMIMKRS GGHRIPGLNC
241 CGQGRACYRW SKRWLIVKDS FLLYMKPDSG AIAFVLLVDK EFKIKVGKKE TETKYGIRID
301 NLSRTLILKC NSYRHARWWG GAIEEFIQKH GTNFLKDHRF GSYAAIQENA LAKWYVNAKG
361 YFEDVANAME EANEEIFITD WWLSPEIFLK RPVVEGNRWR LDCILKRKAQ QGVRIFIMLY
421 KEVELALGIN SEYTKRTLMR LHPNIKVMRH PDHVSSTVYL WAHHEKLVII DQSVAFVGGI
481 DLAYGRWDDN EHRLTDVGSV KRVTSGPSLG SLPPAAMESM ESLRLKDKNE PVQNLPIQKS
541 IDDVDSKLKG IGKPRKFSKF SLYKQLHRHH LHDADSISSI DSTSSYFNHY RSHHNLIHGL
601 KPHFKLFHPS SESEQGLTRP HADTGSIRSL QTGVGELHGE TRFWHGKDYC NFVFKDWVQL
661 DKPFADFIDR YSTPRMPWHD IASAVHGKAA RDVARHFIQR WNFTKIMKSK YRSLSYPFLL
721 PKSQTTAHEL RYQVPGSVHA NVQLLRSAAD WSAGIKYHEE SIHAAYVHVI ENSRHYIYIE
781 NQFFISCADD KVVFNKIGDA IAQRILKAHR ENQKYRVYVV IPLLPGFEGD ISTGGGNALQ
841 AIMHFNYRTM CRGENSILGQ LKAELGNQWI NYISFCGLRT HAELEGNLVT ELIYVHSKLL
901 IADDNTVIIG SANINDRSML GKRDSEMAVI VQDTETVPSV MDGKEYQAGR FARGLRLQCF
961 RVVLGYLDDP SEDIQDPVSD KFFKEVWVST AARNATIYDK VFRCLPNDEV HNLIQLRDFI
1021 NKPVLAKEDP IRAEEELKKI RGFLVQFPFY FLSEESLLPS VGTKEAIVPM EVWTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLD1 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
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 81 nTPM
Expression across tissuesHPA
Tissue
- gallbladder: 81 nTPM
- duodenum: 44 nTPM
- small intestine: 41 nTPM
- liver: 31 nTPM
- esophagus: 31 nTPM
- skin: 27 nTPM
Single-cell type
- oligodendrocytes: 577 nCPM
- neutrophil progenitors: 500 nCPM
- adrenal cortex cells: 490 nCPM
- esophageal suprabasal cells: 395 nCPM
- esophageal apical cells: 372 nCPM
- fibro-adipogenic progenitors: 357 nCPM
Immune cell
- basophil: 7.9 nTPM
- eosinophil: 2.3 nTPM
- MAIT T-cell: 2.2 nTPM
- NK-cell: 1.8 nTPM
- classical monocyte: 1.6 nTPM
- intermediate monocyte: 1 nTPM
Brain region
- white matter: 78 nTPM
- medulla oblongata: 52 nTPM
- basal ganglia: 50 nTPM
- pons: 45 nTPM
- midbrain: 45 nTPM
- cerebellum: 40 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLD1.
Disease | AllUniProt
Conditions PLD1 is implicated in, by any mechanism.
- Cardiac valvular dysplasia 1 (CVDP1) MIM:212093
Disease | GeneticClinVar
29 pathogenic / likely-pathogenic of 389 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cardiac valvular defect, developmental
- Malignant tumor of esophagus
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)
- 0.88
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.18
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to nutrient
- chemotaxis
- phosphatidic acid biosynthetic process
- phospholipid catabolic process
- positive regulation of translation
- Ras protein signal transduction
- regulation of microvillus assembly
- regulation of synaptic vesicle cycle
- regulation of vesicle-mediated transport
- small GTPase-mediated signal transduction
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PLD1 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 PLD1 as an antibody target. Whether an autoantibody or antibody against PLD1 could matter depends on whether native PLD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLD1 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 PLD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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