NT5M (5',3'-Nucleotidase, Mitochondrial)
Mitochondrial 5',3'-Nucleotidase: Gene, Function, and Clinical Relevance
Gene Information Card
| Symbol | NT5M |
|---|---|
| Full Name | 5',3'-Nucleotidase, Mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 56953 ncbi.nlm.nih.gov/gene/56953 |
| Ensembl ID | ENSG00000109099 |
| UniProt ID | Q9NPB1 |
| OMIM ID | 609237 |
| HGNC ID | 17869 |
| Aliases | dJ470O22.2, MGC117188, MGC117189 |
Description
The NT5M gene encodes a mitochondrial 5',3'-nucleotidase that catalyzes the dephosphorylation of nucleoside monophosphates to nucleosides and inorganic phosphate. This enzyme is involved in mitochondrial nucleotide metabolism, particularly in the salvage pathway, and may play a role in regulating mitochondrial nucleotide pools and energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect mitochondrial nucleotide metabolism and tumor growth | NCBI Gene, COSMIC |
| Mitochondrial disorders | Potential impact on mitochondrial nucleotide pool balance | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Kidney | 6.4 | Low |
| Brain | 5.3 | Low |
| Testis | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HepG2 | 12.1 | Liver cancer cell line |
| K562 | 9.7 | Leukemia cell line |
| A549 | 8.4 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional effect |
| c.458G>A (p.Arg153His) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 5'-nucleotidase activity (GO:0008253) | • mitochondrion (GO:0005739) |
| • nucleotide catabolic process (GO:0009166) | • metal ion binding (GO:0046872) |
Pathways
• ['Nucleotide metabolism (Reactome: R-HSA-15869)']
• ['Purine metabolism (KEGG: hsa00230)']
Protein Summary
The NT5M protein is a mitochondrial 5',3'-nucleotidase that hydrolyzes nucleoside monophosphates (e.g., AMP, GMP, CMP, UMP) to their corresponding nucleosides and inorganic phosphate. It is a homodimer with a molecular weight of approximately 26 kDa per subunit. The enzyme requires divalent metal ions (e.g., Mg2+ or Mn2+) for activity and is inhibited by ATP. It is thought to regulate mitochondrial nucleotide pools and may influence cellular energy balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NT5M Knockout HEK293 Cell Line | EDJ-KQ14508 | Human | 56953 | Details Get a Quote |
| NT5M Knockout HCT 116 Cell Line | EDJ-KQ44778 | Human | 56953 | Details Get a Quote |
| NT5M Knockout A-549 Cell Line | EDJ-KQ43524 | Human | 56953 | Details Get a Quote |
| NT5M Knockout HeLa Cell Line | EDJ-KQ56776 | Human | 56953 | Details Get a Quote |
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