GPCPD1
Glycerophosphocholine Phosphodiesterase 1
Gene Information Card
| Symbol | GPCPD1 |
|---|---|
| Full Name | Glycerophosphocholine Phosphodiesterase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 56261 ncbi.nlm.nih.gov/gene/56261 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NPB8 |
| OMIM ID | 612289 |
| HGNC ID | 24838 |
| Aliases | GDE5, GPCPD1L, MIR890 |
Description
GPCPD1 encodes glycerophosphocholine phosphodiesterase 1, an enzyme that hydrolyzes glycerophosphocholine to choline and glycerol-3-phosphate. It plays a role in choline metabolism, phospholipid homeostasis, and may influence cell signaling and membrane integrity. The gene is also known as GDE5.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered choline metabolism; GPCPD1 expression changes may affect tumor growth | PMID: 25691885 |
| Breast cancer | Dysregulated glycerophosphocholine metabolism linked to GPCPD1 activity | PMID: 29127120 |
| Neurological disorders | Choline deficiency via GPCPD1 may impact neurotransmitter synthesis | PMID: 23042298 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Testis | 22.1 | High |
| Prostate | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Moderate expression |
| HeLa | 9.8 | Low expression |
| MCF7 | 21.3 | High expression |
| PC3 | 25.0 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1420G>A (p.Gly474Ser) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • glycerophosphocholine phosphodiesterase activity | • choline metabolic process |
| • glycerol-3-phosphate metabolic process | • membrane |
Pathways
• Glycerophospholipid metabolism
• Choline metabolism in cancer
Protein Summary
GPCPD1 is a 63 kDa membrane-associated protein with glycerophosphocholine phosphodiesterase activity. It converts glycerophosphocholine into choline and glycerol-3-phosphate, contributing to choline recycling and phospholipid turnover. The protein is widely expressed, with highest levels in testis and prostate.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPCPD1 Knockout HEK293 Cell Line | EDJ-KQ13653 | Human | 56261 | Details Get a Quote |
| GPCPD1 Knockout HCT 116 Cell Line | EDJ-KQ42088 | Human | 56261 | Details Get a Quote |
| GPCPD1 Knockout A-549 Cell Line | EDJ-KQ43343 | Human | 56261 | Details Get a Quote |
| GPCPD1 Knockout HeLa Cell Line | EDJ-KQ43345 | Human | 56261 | Details Get a Quote |
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