NT5E (5'-Nucleotidase Ecto)
Ecto-5'-Nucleotidase, CD73, Key Regulator of Adenosine Metabolism
Gene Information Card
| Symbol | NT5E |
|---|---|
| Full Name | 5'-Nucleotidase Ecto |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.3 |
| NCBI Gene ID | 4907 ncbi.nlm.nih.gov/gene/4907 |
| Ensembl ID | ENSG00000135318 |
| UniProt ID | P21589 |
| OMIM ID | 129190 |
| HGNC ID | 8021 |
| Aliases | CD73, E5NT, NT5, NTE, eN, eNT |
Description
The NT5E gene encodes ecto-5'-nucleotidase (CD73), a glycosylphosphatidylinositol (GPI)-anchored cell surface enzyme that catalyzes the dephosphorylation of extracellular adenosine monophosphate (AMP) to adenosine. This enzyme is a key component of the purinergic signaling pathway, regulating extracellular adenosine levels and influencing immune responses, vascular function, and tissue homeostasis. Loss-of-function mutations in NT5E are associated with arterial calcification and immune dysregulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arterial Calcification, Generalized, of Infancy, 2 (GACI2) | Loss-of-function mutations reduce adenosine production, leading to increased vascular calcification. | OMIM #617468; PMID: 27005419 |
| Immunodeficiency, due to CD73 deficiency | Impaired adenosine generation disrupts T-cell regulation and immune tolerance. | OMIM #129190; PMID: 21841779 |
| Cancer (various) | Overexpression of CD73 in tumor microenvironment promotes immunosuppression via adenosine signaling. | COSMIC; PMID: 28490518 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Lung | 9.2 | Medium |
| Small intestine | 8.7 | Medium |
| Kidney | 7.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 8.9 | Moderate expression |
| HepG2 | 6.3 | Low expression |
| K562 | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1609G>A (p.Gly537Arg) | Missense | Rare | Loss of function; impaired catalytic activity |
| c.662C>T (p.Pro221Leu) | Missense | Rare | Loss of function; reduced membrane expression |
Mutation functional classification
Loss of Function (LOF)
Most reported NT5E mutations are loss-of-function, leading to reduced or absent CD73 activity and decreased extracellular adenosine.
Gain of Function (GOF)
No gain-of-function mutations have been reported in NT5E.
Dominant Negative (DN)
No dominant-negative mutations have been described for NT5E.
View complete mutation data：
Gene Ontology (GO)
| • 5'-nucleotidase activity (GO:0000252) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) | • cell surface (GO:0009986) |
| • integral component of membrane (GO:0016021) | • adenosine metabolic process (GO:0046085) |
| • extracellular exosome (GO:0070062) |
Pathways
• Adenosine signaling pathway (Reactome: R-HSA-418594)
• Purine metabolism (KEGG: hsa00230)
• cAMP signaling pathway (KEGG: hsa04024)
Protein Summary
CD73 (ecto-5'-nucleotidase) is a 574-amino acid GPI-anchored glycoprotein that hydrolyzes extracellular AMP to adenosine. It exists as a homodimer on the cell surface and is involved in immune modulation, vascular calcification, and tumor progression. The protein has a conserved N-terminal domain and a C-terminal catalytic domain. Post-translational modifications include N-glycosylation and GPI anchor attachment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NT5E Knockout HEK293 Cell Line | EDJ-KQ17779 | Human | 4907 | Details Get a Quote |
| NT5E Knockout A-549 Cell Line | EDJ-KQ19854 | Human | 4907 | Details Get a Quote |
| NT5E Knockout HCT 116 Cell Line | EDJ-KQ19855 | Human | 4907 | Details Get a Quote |
| NT5E Knockout HeLa Cell Line | EDJ-KQ19856 | Human | 4907 | Details Get a Quote |
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