ENPP5: Ectonucleotide Pyrophosphatase/Phosphodiesterase 5
A member of the ENPP family involved in nucleotide metabolism and signaling
Gene Information Card
| Symbol | ENPP5 |
|---|---|
| Full Name | Ectonucleotide Pyrophosphatase/Phosphodiesterase 5 (putative) |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 5909 ncbi.nlm.nih.gov/gene/5909 |
| Ensembl ID | ENSG00000112763 |
| UniProt ID | Q9UJA9 |
| OMIM ID | 609831 |
| HGNC ID | 3358 |
| Aliases | NPP5, PD-IBeta, FLJ20728 |
Description
ENPP5 encodes a member of the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The protein is predicted to be a type II transmembrane glycoprotein with extracellular phosphodiesterase and pyrophosphatase activity, involved in hydrolyzing nucleotide triphosphates and dinucleotides. ENPP5 is expressed in various tissues and may play roles in nucleotide signaling and metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect extracellular nucleotide levels and signaling | COSMIC: mutations and expression changes reported in multiple cancer types |
| Glioblastoma | Potential role in tumor microenvironment via nucleotide hydrolysis | COSMIC: somatic mutations observed in glioblastoma samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Lung | 5.1 | Low |
| Liver | 3.4 | Low |
| Kidney | 6.7 | Medium |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Embryonic kidney cells |
| HeLa | 6.1 | Cervical cancer cells |
| A549 | 3.8 | Lung carcinoma cells |
| U87MG | 7.2 | Glioblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.452G>A (p.Arg151His) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.689_690insA | Frameshift | Rare (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions and nonsense variants likely lead to truncated or absent protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ENPP5.
Dominant Negative (DN)
No known dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0004553) | • 3 (GO:0004114) |
| • hydrolase activity (GO:0016787) | • plasma membrane (GO:0005886) |
| • extracellular region (GO:0005576) |
Pathways
• Purine metabolism (Reactome: R-HSA-74217)
• Pyrimidine metabolism (Reactome: R-HSA-73817)
• Extracellular nucleotide signaling (KEGG: hsa00230)
Protein Summary
ENPP5 is a 473-amino acid type II transmembrane protein with a predicted extracellular domain containing phosphodiesterase and pyrophosphatase activity. It is involved in the hydrolysis of extracellular nucleotides, potentially regulating purinergic signaling. The protein is expressed in multiple tissues, with highest levels in testis and brain. Structural studies suggest a conserved catalytic site similar to other ENPP family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENPP5 Knockout HEK293 Cell Line | EDJ-KQ13291 | Human | 59084 | Details Get a Quote |
| ENPP5 Knockout HCT 116 Cell Line | EDJ-KQ42728 | Human | 59084 | Details Get a Quote |
| ENPP5 Knockout HeLa Cell Line | EDJ-KQ56958 | Human | 59084 | Details Get a Quote |
| ENPP5 Knockout A-549 Cell Line | EDJ-KQ65464 | Human | 59084 | Details Get a Quote |
