ENTPD5
Ectonucleoside Triphosphate Diphosphohydrolase 5
Gene Information Card
| Symbol | ENTPD5 |
|---|---|
| Full Name | Ectonucleoside Triphosphate Diphosphohydrolase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 957 ncbi.nlm.nih.gov/gene/957 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | O75356 |
| OMIM ID | 603162 |
| HGNC ID | 3366 |
| Aliases | CD39L4, NTPDase5, ER-UDPase |
Description
ENTPD5 encodes a member of the ectonucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The protein is localized to the endoplasmic reticulum (ER) and functions as a UDPase, converting UDP to UMP, thereby regulating ER luminal nucleotide levels and protein glycosylation. It plays a role in protein folding, quality control, and cellular stress responses. ENTPD5 is implicated in cancer progression and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression promotes tumor growth by enhancing protein N-glycosylation and ER stress adaptation | PMID: 19617556 |
| Breast cancer | Upregulation correlates with poor prognosis; supports cell proliferation via UMP salvage pathway | PMID: 23555252 |
| Hepatocellular carcinoma | ENTPD5 silencing reduces cell viability and induces apoptosis | PMID: 25636800 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Prostate | 6.5 | Low |
| Breast | 4.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| LNCaP | 7.4 | Prostate cancer cell line |
| HEK293 | 5.6 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.1430G>A (p.Arg477His) | Missense | <0.01% | Reported in COSMIC; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • nucleoside-triphosphatase activity (GO:0017111) |
| • hydrolase activity (GO:0016787) | • endoplasmic reticulum (GO:0005783) |
| • protein glycosylation (GO:0006486) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
Pathways
• REACTOME: R-HSA-446203 - Asparagine N-linked glycosylation
• REACTOME: R-HSA-9013405 - Unfolded Protein Response (UPR)
• KEGG: hsa00520 - Amino sugar and nucleotide sugar metabolism
Protein Summary
ENTPD5 is a 428-amino acid protein with a molecular weight of approximately 48 kDa. It contains an E-NTPDase domain and is anchored to the ER membrane via a C-terminal transmembrane domain. The protein hydrolyzes UDP to UMP, regulating the ER nucleotide pool and influencing N-glycosylation. It interacts with the unfolded protein response (UPR) and is overexpressed in several cancers, where it supports tumor cell survival under ER stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENTPD5 Knockout HEK293 Cell Line | EDJ-KQ4220 | Human | 957 | Details Get a Quote |
| ENTPD5 Knockout A-549 Cell Line | EDJ-KQ25369 | Human | 957 | Details Get a Quote |
| ENTPD5 Knockout HCT 116 Cell Line | EDJ-KQ26685 | Human | 957 | Details Get a Quote |
| ENTPD5 Knockout HeLa Cell Line | EDJ-KQ26686 | Human | 957 | Details Get a Quote |
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