• Gene id: 5337

Gene Summary

• Gene Symbol: PLD1   Gene   UCSC   Ensembl
• Aliases: CVDD
• Gene name: phospholipase D1
• Alternate names: phospholipase D1, choline phosphatase 1, phosphatidylcholine-hydrolyzing phospholipase D1, phospholipase D1, phosphatidylcholine-specific,
• Gene location: 3q26.31 (171810482: 171600403)     Exons: 33     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 602382

Protein Summary

• Protein general information: Q13393  
  • Name: Phospholipase D1 (PLD 1) (hPLD1) (EC 3.1.4.4) (Choline phosphatase 1) (Phosphatidylcholine hydrolyzing phospholipase D1)
  • Length: 1074  
  • Mass: 124184
  • Tissue specificity: Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine. {ECO
• Sequence:

  MSLKNEPRVNTSALQKIAADMSNIIENLDTRELHFEGEEVDYDVSPSDPKIQEVYIPFSAIYNTQGFKEPNIQTY
  LSGCPIKAQVLEVERFTSTTRVPSINLYTIELTHGEFKWQVKRKFKHFQEFHRELLKYKAFIRIPIPTRRHTFRR
  QNVREEPREMPSLPRSSENMIREEQFLGRRKQLEDYLTKILKMPMYRNYHATTEFLDISQLSFIHDLGPKGIEGM
  IMKRSGGHRIPGLNCCGQGRACYRWSKRWLIVKDSFLLYMKPDSGAIAFVLLVDKEFKIKVGKKETETKYGIRID
  NLSRTLILKCNSYRHARWWGGAIEEFIQKHGTNFLKDHRFGSYAAIQENALAKWYVNAKGYFEDVANAMEEANEE
  IFITDWWLSPEIFLKRPVVEGNRWRLDCILKRKAQQGVRIFIMLYKEVELALGINSEYTKRTLMRLHPNIKVMRH
  PDHVSSTVYLWAHHEKLVIIDQSVAFVGGIDLAYGRWDDNEHRLTDVGSVKRVTSGPSLGSLPPAAMESMESLRL
  KDKNEPVQNLPIQKSIDDVDSKLKGIGKPRKFSKFSLYKQLHRHHLHDADSISSIDSTSSYFNHYRSHHNLIHGL
  KPHFKLFHPSSESEQGLTRPHADTGSIRSLQTGVGELHGETRFWHGKDYCNFVFKDWVQLDKPFADFIDRYSTPR
  MPWHDIASAVHGKAARDVARHFIQRWNFTKIMKSKYRSLSYPFLLPKSQTTAHELRYQVPGSVHANVQLLRSAAD
  WSAGIKYHEESIHAAYVHVIENSRHYIYIENQFFISCADDKVVFNKIGDAIAQRILKAHRENQKYRVYVVIPLLP
  GFEGDISTGGGNALQAIMHFNYRTMCRGENSILGQLKAELGNQWINYISFCGLRTHAELEGNLVTELIYVHSKLL
  IADDNTVIIGSANINDRSMLGKRDSEMAVIVQDTETVPSVMDGKEYQAGRFARGLRLQCFRVVLGYLDDPSEDIQ
  DPVSDKFFKEVWVSTAARNATIYDKVFRCLPNDEVHNLIQLRDFINKPVLAKEDPIRAEEELKKIRGFLVQFPFY
  FLSEESLLPSVGTKEAIVPMEVWT

• Structural information:
  • Protein Domains: (81..21-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147-)
    (219..32-)
    (/note="PH-)
    (459..48-)
    1 (/note="PLD-phosphodiesterase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00153-)
    (891..91-)
    (/note="PLD-phosphodiester)
  • Interpro: IPR011993  IPR001849  IPR001683  IPR025202  IPR001736   IPR016555  IPR015679  IPR036871  
  • Prosite: PS50035 PS50195
  • DIP: 40821
  • STRING: ENSP00000342793
• Other Databases: GeneCards:  PLD1  Malacards:  PLD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045727	positive regulation of translation	IMP	biological process
GO:0004630	phospholipase D activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0009395	phospholipid catabolic process	IBA	biological process
GO:0032534	regulation of microvillus assembly	IBA	biological process
GO:0048870	cell motility	IBA	biological process
GO:0006654	phosphatidic acid biosynthetic process	IEA	biological process
GO:0048017	inositol lipid-mediated signaling	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004630	phospholipase D activity	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004630	phospholipase D activity	TAS	molecular function
GO:0006935	chemotaxis	TAS	biological process
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0007265	Ras protein signal transduction	TAS	biological process
GO:0004630	phospholipase D activity	IEA	molecular function
GO:0070290	N-acylphosphatidylethanolamine-specific phospholipase D activity	IEA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006654	phosphatidic acid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0032534	regulation of microvillus assembly	IMP	biological process
GO:0098693	regulation of synaptic vesicle cycle	IMP	biological process
GO:0098693	regulation of synaptic vesicle cycle	IDA	biological process
GO:0098981	cholinergic synapse	IMP	cellular component
GO:0098981	cholinergic synapse	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa04144	Endocytosis
hsa04014	Ras signaling pathway
hsa04024	cAMP signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04724	Glutamatergic synapse
hsa04071	Sphingolipid signaling pathway
hsa00564	Glycerophospholipid metabolism
hsa05231	Choline metabolism in cancer
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04666	Fc gamma R-mediated phagocytosis
hsa04912	GnRH signaling pathway
hsa05212	Pancreatic cancer
hsa00565	Ether lipid metabolism

Diseases

Associated diseases	References
Cardiac valvular defect, developmental	KEGG:H02375
Cardiac valvular defect, developmental	KEGG:H02375
pancreatic ductal adenocarcinoma	PMID:27713167
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)