GPLD1 glycosylphosphatidylinositol specific phospholipase D1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPLD1provided by HGNC
Official Full Name: glycosylphosphatidylinositol specific phospholipase D1provided by HGNC
Primary source: HGNC:HGNC:4459
See related: Ensembl:ENSG00000112293 MIM:602515; AllianceGenome:HGNC:4459
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: PLD; 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]
Expression: Biased expression in liver (RPKM 12.6), skin (RPKM 4.0) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (24423969..24495287, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (24295865..24365025, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (24426060..24489806, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RalA, PLD and mTORC1 Are Required for Kinase-Independent Pathways in DGKbeta-Induced Neurite Outgrowth.
Title: RalA, PLD and mTORC1 Are Required for Kinase-Independent Pathways in DGKβ-Induced Neurite Outgrowth.
The role of GPLD1 in chronic diseases.
Title: The role of GPLD1 in chronic diseases.
Serum GPI-PLD in the NAFLD (+) group was significantly higher than in the NAFLD (-) group in men with metabolic syndrome.
Title: Impact of glycosylphosphatidylinositol-specific phospholipase D on hepatic diacylglycerol accumulation, steatosis, and insulin resistance in diet-induced obesity.
computational study suggests that although curcumin to some extent binds with Tp receptor, yet the inhibition of Arf6GDP to Arf6GTP conversion appeared to be an important mechanism by which curcumin inhibits U46619-induced increase in PLD activity in PASMCs.
Title: Role of curcumin in PLD activation by Arf6-cytohesin1 signaling axis in U46619-stimulated pulmonary artery smooth muscle cells.
Study discovered novel and independent associations of prediabetes and related traits with MASP1, and some evidence for associations with THBS1, GPLD1 and ApoA-IV, suggesting a role for these proteins in the pathophysiology of type 2 diabetes.
Title: MASP1, THBS1, GPLD1 and ApoA-IV are novel biomarkers associated with prediabetes: the KORA F4 study.
c-Myc influences GPI-AP signaling transcriptionally and posttranslational and represses GPI-AP anti-proliferative signaling in tumors
Title: Regulation of glycosylphosphatidylinositol-anchored proteins and GPI-phospholipase D in a c-Myc transgenic mouse model of hepatocellular carcinoma and human HCC.
An observed increase in PLD activity was mediated through boosting the binding of PLD with dynamin which in turn facilitated fibronectin-induced cell spreading.
Title: GTP-dependent interaction between phospholipase D and dynamin modulates fibronectin-induced cell spreading.
Low aggressive MCF-7 breast cancer cells have low endogenous PLD enzymatic activity and cell invasion, concomitant with high expression of miR-203, -887, and -3619 and miR-182 and miR-182.
Title: Down-regulation of MicroRNAs (MiRs) 203, 887, 3619 and 182 Prevents Vimentin-triggered, Phospholipase D (PLD)-mediated Cancer Cell Invasion.
suggest that the down-regulation of GPI-PLD protein may be involved in prion propagation in the brains of prion diseases
Title: Phosphatidylinositol-glycan-phospholipase D is involved in neurodegeneration in prion disease.
our findings showed that ANRIL is an lncRNA responsible in anti-tumorigenesis caused by PLD inhibition and combined incorporation of ANRIL into PLD inhibition-induced anti-tumorigenic signaling network
Title: Down-regulation of Phospholipase D Stimulates Death of Lung Cancer Cells Involving Up-regulation of the Long ncRNA ANRIL.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of glycosylphosphatidylinositol specific phospholipase D1 (GPLD1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46669 (e-PCR)
- UniSTS:49683

WI-11671 (e-PCR)
- UniSTS:81194

STS-H93959 (e-PCR)
- UniSTS:35376

RH37437 (e-PCR)
- UniSTS:33896

NoName (e-PCR)
- UniSTS:483749

SHGC-12534 (e-PCR)
- UniSTS:2734

WI-18199 (e-PCR)
- UniSTS:58047

SGC35287 (e-PCR)
- UniSTS:72390

D6S2299 (e-PCR)
- UniSTS:74483

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glycosylphosphatidylinositol phospholipase D activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycosylphosphatidylinositol phospholipase D activity	IDA Inferred from Direct Assay more info	PubMed
enables glycosylphosphatidylinositol phospholipase D activity	TAS Traceable Author Statement more info	PubMed
enables phospholipase D activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info

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

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed

General protein information

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Preferred Names: phosphatidylinositol-glycan-specific phospholipase D

Names: GPI-PLD; GPI-specific phospholipase D; PI-G PLD; glycoprotein phospholipase D

NP_001494.2

EC 3.1.4.50

XP_016866242.1

EC 3.1.4.50

XP_047274613.1

EC 3.1.4.50

XP_047274614.1

EC 3.1.4.50

XP_054211173.1

EC 3.1.4.50

XP_054211174.1

EC 3.1.4.50

NCBI Reference Sequences (RefSeq)

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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_029888.2 RefSeqGene

Range

5045..68791

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001503.4 → NP_001494.2 phosphatidylinositol-glycan-specific phospholipase D precursor

See identical proteins and their annotated locations for NP_001494.2

Status: REVIEWED

Source sequence(s)

AJ308108, AL031230, AL359713, AY007546, BU587813, L11702

Consensus CDS

CCDS4553.1

UniProtKB/Swiss-Prot

P80108, Q15127, Q15128, Q2M2F2, Q5T3Y0, Q7Z6T8, Q8TCV0, Q8WW82, Q96ID6, Q9H167, Q9H4M1, Q9UJC9

Related

ENSP00000230036.1, ENST00000230036.2

Conserved Domains (3) summary

smart00191
Location:446 → 499

Int_alpha; Integrin alpha (beta-propellor repeats)

pfam00882
Location:28 → 211

Zn_dep_PLPC; Zinc dependent phospholipase C

pfam01839
Location:514 → 541

FG-GAP; FG-GAP repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

24423969..24495287 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010753.3 → XP_016866242.1 phosphatidylinositol-glycan-specific phospholipase D isoform X3
XM_047418657.1 → XP_047274613.1 phosphatidylinositol-glycan-specific phospholipase D isoform X1
XM_047418658.1 → XP_047274614.1 phosphatidylinositol-glycan-specific phospholipase D isoform X2

RNA

XR_007059240.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

24295865..24365025 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355198.1 → XP_054211173.1 phosphatidylinositol-glycan-specific phospholipase D isoform X1
XM_054355199.1 → XP_054211174.1 phosphatidylinositol-glycan-specific phospholipase D isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_177483.1: Suppressed sequence

Description

NM_177483.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.