2. Gene
  3. PLD1 - phospholipase D1 Gene

PLD1 - phospholipase D1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

PLD1 Protein Structure

PX

PX: PX domain (83 - 207)

PH

PH: PH domain (223 - 326)

PLDc

PLDc: Phospholipase D Active site motif (459 - 486)

PLDc_2

PLDc_2: PLD-like domain (768 - 937)

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  • 1074 a.a.
Protein Preferred Names Protein Names

phospholipase D1

choline phosphatase 1

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 99.65% Unkown
HY-119093 Halopemide 99.65% Unkown
HY-155342 A3373 Inhibitor 99.06% Unkown
HY-12807A FIPI hydrochloride Inhibitor / Unkown
HY-108612A VU0155069 hydrochloride Inhibitor / Unkown
HY-108616 VU 0364739 hydrochloride Inhibitor / 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
HY-124305 ML395 / 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