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
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

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

PLD1 Protein-protein interaction Information

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

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