GPLD1 glycosylphosphatidylinositol specific phospholipase D1 [Homo sapiens] - Gene

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Summary

Official Symbol: GPLD1provided by HGNC
Official Full Name: glycosylphosphatidylinositol specific phospholipase D1provided by HGNC
Primary source: HGNC:4459
See related: Ensembl:ENSG00000112293; HPRD:03946; MIM:602515; Vega:OTTHUMG00000016104
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GPIPLD; PIGPLD; GPIPLDM; PIGPLD1
Summary: Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 6p22.1

Sequence :: Chromosome: 6; NC_000006.11 (24428405..24489850, complement)

See GPLD1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The mRNA expression and activity of GPI-PLD in de novo and refractory or relapsed acute myeloid leukemia patients are obviously higher than those in normal controls.
Title: [Expression and activity of glycosylphosphatidylinositol-specific phospholipase d mRNA in bone marrow mononuclear cells isolated from patient with acute myeloid leukemia and their significance].
This study revealed the novel mechanism of bleomycin-induced redox-sensitive activation of phospholipase D leading to the generation of phosphaticid acid.
Title: Pulmonary fibrosis inducer, bleomycin, causes redox-sensitive activation of phospholipase D and cytotoxicity through formation of bioactive lipid signal mediator, phosphatidic acid, in lung microvascular endothelial cells.
The role of phospholipase D in the transport of VAT1 to plasma membranes and in phosphatidic acid metabolism in neutrophils is reported.
Title: An essential role for phospholipase D in the recruitment of vesicle amine transport protein-1 to membranes in human neutrophils.
Observational study of gene-disease association. (HuGE Navigator)
Title: PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.
The serum GPI-PLD activities, the protein and mRNA levels of GPI-PLD in hepatocellular carcinoma patients were decreased by 40%, 60% and 56%, respectively.
Title: Important roles of glycosylphosphatidylinositol (GPI)-specific phospholipase D and some GPI-anchored proteins in the pathogenesis of hepatocellular carcinoma.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
We show that human PLD1b and PLD2a contain functional caspase 3 cleavage sites and identify the critical aspartate residues within PLD1b that affect its activation by phorbol esters.
Title: Identification of caspase 3 motifs and critical aspartate residues in human phospholipase D1b and phospholipase D2a.
Data indicate that a critical component of Ras signaling is the activation of PLD.
Title: Phospholipase D provides a survival signal in human cancer cells with activated H-Ras or K-Ras.
GPI-PLD probably had no contribution to hematopoietic stem cell homing, which may due to its low or no expression in cord blood, bone marrow and mobilized peripheral blood CD34(+) cells.
Title: Role of glycosylphosphatidylinositol-specific phospholipase D in the homing of umbilical cord blood, mobilized peripheral blood and bone marrow-derived hematopoietic stem/progenitor cells.
Data describe the role of angiotensin II type 1A receptor phosphorylation, phospholipase D, and extracellular calcium in isoform-specific protein kinase C membrane translocation responses.
Title: Role of angiotensin II type 1A receptor phosphorylation, phospholipase D, and extracellular calcium in isoform-specific protein kinase C membrane translocation responses.

Submit: New GeneRIF Correction See all (15)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

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Products	Interactant	Other Gene	Source	Pubs	Description
P80108	Alkaline phosphatase, placental	ALPP	HPRD	PubMed
P80108	P02647	APOA1	HPRD	PubMed
P80108	P06727	APOA4	HPRD	PubMed
P80108	P08174	CD55	HPRD	PubMed
P80108	P17900	GM2A	HPRD	PubMed
BioGRID:109083	BioGRID:106832	APOA1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109083	BioGRID:106834	APOA4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
glycosylphosphatidylinositol phospholipase D activity	IDA Inferred from Direct Assay more info	PubMed
glycosylphosphatidylinositol phospholipase D activity	TAS Traceable Author Statement more info	PubMed
hydrolase activity	IEA Inferred from Electronic Annotation more info
phospholipase C activity	IEA Inferred from Electronic Annotation more info
phospholipase D activity	IDA Inferred from Direct Assay more info	PubMed
sodium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
GPI anchor release	IDA Inferred from Direct Assay more info	PubMed
GPI anchor release	IMP Inferred from Mutant Phenotype more info	PubMed
cell migration involved in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
cellular response to cholesterol	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to drug	IDA Inferred from Direct Assay more info	PubMed
cellular response to insulin stimulus	IDA Inferred from Direct Assay more info	PubMed
cellular response to pH	IDA Inferred from Direct Assay more info	PubMed
cellular response to triglyceride	IMP Inferred from Mutant Phenotype more info	PubMed
chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
complement receptor mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
hematopoietic stem cell migration	TAS Traceable Author Statement more info	PubMed
insulin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of triglyceride catabolic process	ISS Inferred from Sequence or Structural Similarity more info
ossification	ISS Inferred from Sequence or Structural Similarity more info
phosphatidylcholine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
phosphatidylcholine metabolic process	TAS Traceable Author Statement more info	PubMed
positive regulation of alkaline phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cytolysis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of glucose metabolic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of high-density lipoprotein particle clearance	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of secretion	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of triglyceride biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
response to glucose stimulus	IDA Inferred from Direct Assay more info	PubMed
transepithelial transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
cytoplasmic part	IDA Inferred from Direct Assay more info	PubMed
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
intracellular	IDA Inferred from Direct Assay more info	PubMed
microsome	IDA Inferred from Direct Assay more info	PubMed
proteinaceous extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: phosphatidylinositol-glycan-specific phospholipase D

Names: phosphatidylinositol-glycan-specific phospholipase D; GPI-PLD; PI-G PLD; GPI-specific phospholipase D; glycoprotein phospholipase D; phospholipase D, phosphatidylinositol-glycan-specific; glycosylphosphatidylinositol specific phospholipase D1, isoform 2

NP_001494.2

EC 3.1.4.50

NP_803436.1

EC 3.1.4.50

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029888.1 RefSeqGene

Range

5001..66446

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001503.2 → NP_001494.2 phosphatidylinositol-glycan-specific phospholipase D isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AJ308108, L11702

Consensus CDS

CCDS4553.1

UniProtKB/Swiss-Prot

P80108

Related

ENSP00000230036, OTTHUMP00000017721, ENST00000230036, OTTHUMT00000043315

Conserved Domains (3) summary

pfam13517
Location:458 – 532
Blast Score: 94

VCBS; Family description

cl03005
Location:28 – 211
Blast Score: 185

Zn_dep_PLPC; Zinc dependent phospholipase C

cl15299
Location:446 – 499
Blast Score: 131

FG-GAP; FG-GAP repeat
NM_177483.1 → NP_803436.1 phosphatidylinositol-glycan-specific phospholipase D isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a protein (isoform 2) with a shorter C-terminus, compared to isoform 1.

Source sequence(s)

BC020748

Consensus CDS

CCDS4554.1

UniProtKB/Swiss-Prot

P80108

Related

ENSP00000367489, OTTHUMP00000017722, ENST00000378243, OTTHUMT00000043317

Conserved Domains (1) summary

cl03005
Location:28 – 154
Blast Score: 149

Zn_dep_PLPC; Zinc dependent phospholipase C

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

24428405..24489850, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

24377636..24439304, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AJ400872.1	CAC14844.1
genomic	AJ400873.1	None
genomic	AJ400874.1	None
genomic	AJ400875.1	None
genomic	AJ400876.1	None
genomic	AL031230.1	CAD92520.1
		CAI22602.1
genomic	AL359713.25	CAI17103.1
genomic	CH471087.1	EAW55448.1
		EAW55449.1
		EAW55450.1
		EAW55451.1
mRNA	AJ308108.1	CAC87068.1
mRNA	AK308639.1	None
mRNA	AK310692.1	None
mRNA	AY007546.2	AAG16627.2
mRNA	BC007614.1	AAH07614.1
mRNA	BC020748.1	AAH20748.1
mRNA	BC093645.1	AAH93645.1
mRNA	BC112001.1	AAI12002.1
mRNA	L11701.1	AAA36444.1
mRNA	L11702.1	AAA36445.1
other-genetic	BC156271.1	AAI56272.1
other-genetic	BC157056.1	AAI57057.1