ENTPD4
Ectonucleoside Triphosphate Diphosphohydrolase 4
Gene Information Card
| Symbol | ENTPD4 |
|---|---|
| Full Name | Ectonucleoside Triphosphate Diphosphohydrolase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 9583 ncbi.nlm.nih.gov/gene/9583 |
| Ensembl ID | ENSG00000104738 |
| UniProt ID | Q9Y227 |
| OMIM ID | 603013 |
| HGNC ID | 3367 |
| Aliases | NTPDase4, UDPase, LALP70, LYSAL1 |
Description
ENTPD4 encodes a member of the ectonucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The protein is a transmembrane enzyme localized to the Golgi apparatus and lysosomes, where it hydrolyzes nucleoside diphosphates (e.g., UDP) to nucleoside monophosphates, playing a key role in nucleotide metabolism and glycosylation processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect nucleotide pools and signaling; potential role in tumor progression | COSMIC: mutations and expression changes observed in multiple cancer types |
| Lysosomal storage disorders | Dysfunction in nucleotide hydrolysis may impair lysosomal function | Inferred from UniProt function and subcellular localization |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.9 | Medium |
| Heart | 6.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in kidney-derived line |
| HeLa | 11.2 | Moderate expression |
| HepG2 | 13.8 | High expression in liver-derived line |
| A549 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | 0.002% (gnomAD) | Unknown functional impact |
| c.832_833del (p.Leu278fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu278fs) likely lead to truncated protein and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleoside diphosphate phosphatase activity | • UDP phosphatase activity |
| • Golgi membrane | • lysosomal membrane |
| • nucleotide metabolic process |
Pathways
• Nucleotide metabolism
• Golgi-to-ER retrograde transport
Protein Summary
ENTPD4 is a 70 kDa transmembrane protein localized to Golgi and lysosomal membranes. It catalyzes the hydrolysis of nucleoside diphosphates (e.g., UDP) to nucleoside monophosphates and inorganic phosphate, regulating nucleotide levels and influencing glycosylation and lysosomal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENTPD4 Knockout HEK293 Cell Line | EDJ-KQ6647 | Human | 9583 | Details Get a Quote |
| ENTPD4 Knockout A-549 Cell Line | EDJ-KQ30927 | Human | 9583 | Details Get a Quote |
| ENTPD4 Knockout HCT 116 Cell Line | EDJ-KQ30928 | Human | 9583 | Details Get a Quote |
| ENTPD4 Knockout HeLa Cell Line | EDJ-KQ30929 | Human | 9583 | Details Get a Quote |
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