1. Gene
  2. PLD1 - phospholipase D1 Gene

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

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

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