PLD1 - phospholipase D1 Gene

Homo sapiens

Also known as CVDD; CVDP1

Gene ID: 5337 | Gene type: protein coding

About PLD1

Cytogenetic location: 3q26.31 Genomic coordinates (GRCh38): 3:171,600,404-171,810,483 (from NCBI)

This gene has 16 transcripts (splice variants), 283 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in gall bladder (RPKM 28.0), duodenum (RPKM 12.6) and 24 other tissues.

Summary

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]

PLD1 Products(2)

mRNA	Protein	Name
NM_001130081.3	NP_001123553.1	phospholipase D1 isoform b
NM_002662.5	NP_002653.1	phospholipase D1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phospholipase D activity	IDA IDA: Inferred from direct assay	25936805	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17853892	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to nutrient	IDA IDA: Inferred from direct assay	25936805	GOA
involved in positive regulation of translation	IMP IMP: Inferred from mutant phenotype	25361009	GOA
involved in regulation of microvillus assembly	IMP IMP: Inferred from mutant phenotype	22797597	GOA
involved in regulation of synaptic vesicle cycle	IDA IDA: Inferred from direct assay	11752468	GOA
involved in regulation of synaptic vesicle cycle	IMP IMP: Inferred from mutant phenotype	11752468	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	14718562	GOA
located in apical plasma membrane	IDA IDA: Inferred from direct assay	22797597	GOA
is active in cholinergic synapse	IDA IDA: Inferred from direct assay	11752468	GOA
is active in cholinergic synapse	IMP IMP: Inferred from mutant phenotype	11752468	GOA
located in endocytic vesicle	IDA IDA: Inferred from direct assay	22797597	GOA
located in endosome	IDA IDA: Inferred from direct assay	14718562	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLD1 Protein Structure

PLDc

PLDc_2

0
200
400
600
800
1000
1074 a.a.

Protein Preferred Names

Protein Names

phospholipase D1

choline phosphatase 1

PLD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PLD1	Q13393	ESRP1	Homo sapiens	Q6NXG1	Y2H Pooling	32814053
Intra	PLD1	Q13393	ESRP1	Homo sapiens	Q6NXG1	Validated Y2H	32814053
Intra	PLD1	Q13393	ESRP1	Homo sapiens	Q6NXG1	Y2H Array	32814053
Intra	PLD1	Q13393	ASCL4	Homo sapiens	Q6XD76	Validated Y2H	32814053
Intra	PLD1	Q13393	ASCL4	Homo sapiens	Q6XD76	Y2H Array	32814053
Intra	PLD1	Q13393	ASCL4	Homo sapiens	Q6XD76	Y2H Pooling	32814053
Intra	PLD1	Q13393	SPIRE1	Homo sapiens	Q08AE8	Validated Y2H	32814053
Intra	PLD1	Q13393	SPIRE1	Homo sapiens	Q08AE8	Y2H Pooling	32814053
Intra	PLD1	Q13393	SPIRE1	Homo sapiens	Q08AE8	Y2H Array	32814053
Intra	PLD1	Q13393	SYNC	Homo sapiens	Q9H7C4	Validated Y2H	32814053
Intra	PLD1	Q13393	SYNC	Homo sapiens	Q9H7C4	Y2H Array	32814053
Intra	PLD1	Q13393	SYNC	Homo sapiens	Q9H7C4	Y2H Pooling	32814053
Intra	PLD1	Q13393	TCF3	Homo sapiens	P15923-3	Y2H Pooling	32814053
Intra	PLD1	Q13393	TCF3	Homo sapiens	P15923-3	Validated Y2H	32814053
Intra	PLD1	Q13393	TCF3	Homo sapiens	P15923-3	Y2H Array	32814053
Intra	PLD1	Q13393	LIAT1	Homo sapiens	Q6ZQX7-4	Validated Y2H	32814053
Intra	PLD1	Q13393	LIAT1	Homo sapiens	Q6ZQX7-4	Y2H Array	32814053
Intra	PLD1	Q13393	LIAT1	Homo sapiens	Q6ZQX7-4	Y2H Pooling	32814053
Intra	PLD1	Q13393	CFL1	Homo sapiens	P23528	IF	17853892
Intra	PLD1	Q13393	CFL1	Homo sapiens	P23528	Pull Down	17853892
Intra	PLD1	Q13393	TP53BP1	Homo sapiens	Q12888	Y2H Array	32814053
Intra	PLD1	Q13393	TP53BP1	Homo sapiens	Q12888	Validated Y2H	32814053
Intra	PLD1	Q13393	TP53BP1	Homo sapiens	Q12888	Y2H Pooling	32814053
Intra	PLD1	Q13393	INCA1	Homo sapiens	Q0VD86	Validated Y2H	32814053
Intra	PLD1	Q13393	INCA1	Homo sapiens	Q0VD86	Y2H Pooling	32814053
Intra	PLD1	Q13393	INCA1	Homo sapiens	Q0VD86	Y2H Array	32814053
Intra	PLD1	Q13393	FANCG	Homo sapiens	O15287	Validated Y2H	32814053
Intra	PLD1	Q13393	FANCG	Homo sapiens	O15287	Y2H Array	32814053
Intra	PLD1	Q13393	FANCG	Homo sapiens	O15287	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Cardiac Valvular Dysplasia 1

Cardiac Valvular Defect, Developmental	CVDP1
CVDD	Heart Valve Disease

Coffin-Lowry Syndrome

CLS	Coffin Syndrome 1
Coffin Syndrome	Intellectual Disability With Osteocartilaginous Abnormalities
Dwarfism, Lean Spastic Type	Lean Spastic Dwarfism
Mental Retardation With Osteocartilaginous Abnormalities	Coffin Lowry Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12807	FIPI	Inhibitor	99.82%	Unkown
HY-108612	VU0155069	Inhibitor	98.55%	Unkown
HY-101293	VU0359595	Inhibitor	98.06%	Unkown
HY-119093	Halopemide		99.65%	Unkown
HY-155342	A3373	Inhibitor	99.06%	Unkown
HY-108616	VU 0364739 hydrochloride	Inhibitor	/	Unkown
HY-12807A	FIPI hydrochloride	Inhibitor	/	Unkown
HY-108612A	VU0155069 hydrochloride	Inhibitor	/	Unkown
HY-124305	ML395		/	Unkown
HY-155343	A4333	Inhibitor	/	Unkown
HY-P10447	Plipastatin A1	Inhibitor	/	Unkown
HY-RS10670	PLD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PLD1	VGNC	VGNC:76171
Bos taurus	PLD1	VGNC	VGNC:50244
Rattus norvegicus	PLD1	RGD	RGD:3349
Felis catus	PLD1	VGNC	VGNC:68901
Canis familiaris	PLD1	VGNC	VGNC:44660
Mus musculus	PLD1	MGD	MGI:109585

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