Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5337
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholipase D1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLD1
Synonyms (NCBI Gene) Gene synonyms aliases
CVDD, CVDP1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.31
Summary Summary of gene provided in NCBI Entrez 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. Alternativ
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs556433569 T>C Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs769669104 T>C,G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs778311238 TG>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs1085307450 A>C,G Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031003 hsa-miR-21-5p Microarray 18591254
MIRT732277 hsa-miR-638 Immunohistochemistry, Luciferase reporter assay, Microarray 26250158
MIRT732277 hsa-miR-638 Immunohistochemistry, Luciferase reporter assay, Microarray 26250158
MIRT734484 hsa-miR-122-5p Luciferase reporter assay, Western blotting, qRT-PCR 32337269
MIRT736754 hsa-miR-320a Flow cytometry 32725633
Transcription factors
Transcription factor Regulation Reference
CTNNB1 Activation 20442281
PGR Unknown 21284604
RXRA Unknown 17433303
TCF4 Activation 20442281
VDR Unknown 17433303
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 IEA
GO:0003824 Function Catalytic activity IEA
GO:0004630 Function Phospholipase D activity IBA
GO:0004630 Function Phospholipase D activity IDA 25936805
GO:0004630 Function Phospholipase D activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602382 9067 ENSG00000075651
Protein
UniProt ID Q13393
Protein name Phospholipase D1 (PLD 1) (hPLD1) (EC 3.1.4.4) (Choline phosphatase 1) (Phosphatidylcholine-hydrolyzing phospholipase D1)
Protein function Function as phospholipase selective for phosphatidylcholine (PubMed:25936805, PubMed:8530346, PubMed:9582313). Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation o
PDB 6U8Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00787 PX 106 209 PX domain Domain
PF00169 PH 220 328 PH domain Domain
PF00614 PLDc 459 486 Phospholipase D Active site motif Family
PF13091 PLDc_2 766 942 PLD-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine. {ECO:0000269|PubMed:9582313}.
Sequence
MSLKNEPRVNTSALQKIAADMSNIIENLDTRELHFEGEEVDYDVSPSDPKIQEVYIPFSA
IYNTQGFKEPNIQTYLSGCPIKAQVLEVERFTSTTRVPSINLYTIELTHGEFKWQVKRKF
KHFQEFHRELLKYKAFIRIPIPTRRHTFRRQNVREEPREMPSLPRSSENMIREEQFLGRR
KQLEDYLTKILKMPMYRNYHATTEFLDIS
QLSFIHDLGPKGIEGMIMKRSGGHRIPGLNC
CGQGRACYRWSKRWLIVKDSFLLYMKPDSGAIAFVLLVDKEFKIKVGKKETETKYGIRID
NLSRTLILKCNSYRHARWWGGAIEEFIQ
KHGTNFLKDHRFGSYAAIQENALAKWYVNAKG
YFEDVANAMEEANEEIFITDWWLSPEIFLKRPVVEGNRWRLDCILKRKAQQGVRIFIMLY
KEVELALGINSEYTKRTLMRLHPNIKVMRHPDHVSSTVYLWAHHEKLVIIDQSVAFVGGI
DLAYGR
WDDNEHRLTDVGSVKRVTSGPSLGSLPPAAMESMESLRLKDKNEPVQNLPIQKS
IDDVDSKLKGIGKPRKFSKFSLYKQLHRHHLHDADSISSIDSTSSYFNHYRSHHNLIHGL
KPHFKLFHPSSESEQGLTRPHADTGSIRSLQTGVGELHGETRFWHGKDYCNFVFKDWVQL
DKPFADFIDRYSTPRMPWHDIASAVHGKAARDVARHFIQRWNFTKIMKSKYRSLSYPFLL
PKSQTTAHELRYQVPGSVHANVQLLRSAADWSAGIKYHEESIHAAYVHVIENSRHYIYIE
NQFFISCADDKVVFNKIGDAIAQRILKAHRENQKYRVYVVIPLLPGFEGDISTGGGNALQ
AIMHFNYRTMCRGENSILGQLKAELGNQWINYISFCGLRTHAELEGNLVTELIYVHSKLL
IADDNTVIIGSANINDRSMLGKRDSEMAVIVQDTETVPSVMD
GKEYQAGRFARGLRLQCF
RVVLGYLDDPSEDIQDPVSDKFFKEVWVSTAARNATIYDKVFRCLPNDEVHNLIQLRDFI
NKPVLAKEDPIRAEEELKKIRGFLVQFPFYFLSEESLLPSVGTKEAIVPMEVWT
Sequence length 1074
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycerophospholipid metabolism
Ether lipid metabolism
Metabolic pathways
Ras signaling pathway
cAMP signaling pathway
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Endocytosis
Fc gamma R-mediated phagocytosis
Glutamatergic synapse
GnRH signaling pathway
Parathyroid hormone synthesis, secretion and action
Pathways in cancer
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Choline metabolism in cancer
  Synthesis of PA
Role of phospholipids in phagocytosis
Neutrophil degranulation
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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
Developmental Cardiac Valvular Defect cardiac valvular defect, developmental rs1085307450, rs769669104, rs778311238 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Duodenal Ulcer Duodenal ulcer N/A N/A GWAS
Renal Carcinoma Renal cell carcinoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmogenic Right Ventricular Dysplasia Associate 37770978
Astrocytoma Associate 17640750
Breast Neoplasms Associate 17726467, 23989060, 24556997, 33832505
Carcinogenesis Associate 31673104
Carcinoma Hepatocellular Associate 32904434, 33466191
Carcinoma Pancreatic Ductal Stimulate 27713167
Carcinoma Pancreatic Ductal Associate 37381714
Cardiomegaly Associate 37770978
Cardiomyopathies Associate 33645542, 37770978
Cell Transformation Neoplastic Associate 21326806