ENTPD7
Ectonucleoside Triphosphate Diphosphohydrolase 7
Gene Information Card
| Symbol | ENTPD7 |
|---|---|
| Full Name | Ectonucleoside Triphosphate Diphosphohydrolase 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 57084 ncbi.nlm.nih.gov/gene/57084 |
| Ensembl ID | ENSG00000107130 |
| UniProt ID | Q9NQZ7 |
| OMIM ID | 609345 |
| HGNC ID | 19765 |
| Aliases | NTPDase7, LALP1, LYSAL1 |
Description
ENTPD7 encodes a member of the ectonucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The enzyme hydrolyzes extracellular nucleoside triphosphates (e.g., ATP, UTP) to nucleoside diphosphates, regulating purinergic signaling. It is localized to the endoplasmic reticulum and Golgi apparatus and is involved in cellular stress responses and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered ENTPD7 expression may affect extracellular ATP levels, influencing tumor microenvironment and immune evasion. | COSMIC; PMID: 25770078 |
| Breast cancer | Overexpression linked to poor prognosis; potential role in metastasis via purinergic signaling. | COSMIC; PMID: 28114273 |
| Inflammatory bowel disease | Dysregulation of ENTPD7 may contribute to chronic inflammation through altered ATP hydrolysis. | ClinVar; PMID: 23954160 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Small intestine | 8.2 | Medium |
| Colon | 7.1 | Medium |
| Lung | 4.3 | Low |
| Breast | 3.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 15.2 | High expression |
| Caco-2 (colorectal) | 10.5 | Moderate expression |
| MCF7 (breast cancer) | 6.8 | Low expression |
| A549 (lung cancer) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.1456G>A (p.Gly486Ser) | Missense | <0.01% | Likely benign; no known disease association |
| c.1789_1791del (p.Phe597del) | In-frame deletion | <0.01% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
In-frame deletions or nonsense mutations may impair ATPase activity, reducing extracellular ATP hydrolysis.
Gain of Function (GOF)
Not well characterized; missense variants could potentially enhance enzyme activity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • ATP hydrolysis activity | • nucleoside-triphosphatase activity |
| • extracellular region | • Golgi apparatus |
| • endoplasmic reticulum | • purinergic nucleotide receptor signaling pathway |
Pathways
• Purinergic signaling
• Extracellular ATP metabolism
• Nucleotide metabolism
Protein Summary
ENTPD7 is a 602-amino acid protein with a predicted molecular weight of ~68 kDa. It contains four conserved apyrase domains characteristic of the E-NTPDase family. The enzyme hydrolyzes ATP and UTP to ADP and UDP, respectively, with a preference for triphosphates. It is anchored to intracellular membranes via a C-terminal transmembrane domain and plays a role in regulating nucleotide levels within the secretory pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENTPD7 Knockout HEK293 Cell Line | EDJ-KQ13292 | Human | 57089 | Details Get a Quote |
| ENTPD7 Knockout A-549 Cell Line | EDJ-KQ42730 | Human | 57089 | Details Get a Quote |
| ENTPD7 Knockout HCT 116 Cell Line | EDJ-KQ42731 | Human | 57089 | Details Get a Quote |
| ENTPD7 Knockout HeLa Cell Line | EDJ-KQ42732 | Human | 57089 | Details Get a Quote |
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