GPLD1
Glycosylphosphatidylinositol Specific Phospholipase D1
Gene Information Card
| Symbol | GPLD1 |
|---|---|
| Full Name | Glycosylphosphatidylinositol Specific Phospholipase D1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 2822 ncbi.nlm.nih.gov/gene/2822 |
| Ensembl ID | ENSG00000112293 |
| UniProt ID | P80108 |
| OMIM ID | 602523 |
| HGNC ID | 4455 |
| Aliases | PIG-PLD, GPI-PLD, GPIPLD |
Description
GPLD1 encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase D that hydrolyzes the inositol phosphate linkage of GPI anchors, thereby releasing anchored proteins from the cell surface. The enzyme is secreted and found in serum, and it plays a role in post-translational modification and protein localization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paroxysmal nocturnal hemoglobinuria (PNH) | Somatic mutations in PIGA lead to GPI anchor deficiency; GPLD1 may contribute to residual GPI anchor cleavage. | PMID: 10602380 |
| Cancer (various) | Altered GPLD1 expression may affect GPI-anchored protein shedding, influencing tumor microenvironment. | PMID: 21947068 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Pancreas | 6.1 | Low |
| Lung | 4.2 | Low |
| Heart | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 3.5 | Embryonic kidney cells |
| A549 | 1.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | 0.01% | p.Arg412Cys; unknown functional impact |
| c.567delA | frameshift | 0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein and loss of enzymatic activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GPI anchor release (GO:0016255) | • phospholipase D activity (GO:0004630) |
| • extracellular region (GO:0005576) | • zinc ion binding (GO:0008270) |
Pathways
• GPI anchor biosynthesis and release
• Phospholipid metabolism
Protein Summary
GPLD1 is a secreted glycoprotein of 840 amino acids that functions as a GPI-specific phospholipase D. It contains a catalytic domain with a zinc-binding motif and is responsible for cleaving GPI anchors, releasing proteins such as alkaline phosphatase and CD59 from cell membranes. The enzyme is primarily expressed in liver and circulates in blood.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPLD1 Knockout HEK293 Cell Line | EDJ-KQ4755 | Human | 2822 | Details Get a Quote |
| GPLD1 Knockout A-549 Cell Line | EDJ-KQ27520 | Human | 2822 | Details Get a Quote |
| GPLD1 Knockout HCT 116 Cell Line | EDJ-KQ27521 | Human | 2822 | Details Get a Quote |
| GPLD1 Knockout HeLa Cell Line | EDJ-KQ53382 | Human | 2822 | Details Get a Quote |
