NT5C Gene (5',3'-Nucleotidase, Cytosolic)
A comprehensive resource for NT5C, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | NT5C |
|---|---|
| Full Name | 5',3'-Nucleotidase, Cytosolic |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 30833 ncbi.nlm.nih.gov/gene/30833 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q8TCD5 |
| OMIM ID | 613199 |
| HGNC ID | 17819 |
| Aliases | dJ473B1.1, MGC117188 |
Description
The NT5C gene encodes a cytosolic 5',3'-nucleotidase that catalyzes the dephosphorylation of nucleoside monophosphates to nucleosides and inorganic phosphate. This enzyme plays a role in nucleotide metabolism and salvage pathways, influencing cellular nucleotide pools and potentially affecting nucleic acid synthesis and repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia | Loss-of-function mutations in NT5C impair nucleotide metabolism, leading to axonal degeneration. | ClinVar; PMID: 25439727 |
| Cancer (various) | Altered NT5C expression may affect nucleotide pool balance, influencing chemotherapy sensitivity. | COSMIC; PMID: 23535731 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.3 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.01% | Reduced enzyme activity; associated with spastic paraplegia |
| c.448G>A (p.Gly150Arg) | Missense | <0.01% | Loss of function; reported in hereditary spastic paraplegia |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro72Leu, p.Gly150Arg) reduce or abolish nucleotidase activity, leading to nucleotide imbalance and neurodegeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; inheritance pattern is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • 5'-nucleotidase activity (GO:0008253) | • nucleotide catabolic process (GO:0009166) |
| • cytoplasm (GO:0005737) |
Pathways
• Purine metabolism (Reactome: R-HSA-74217)
• Pyrimidine metabolism (Reactome: R-HSA-73817)
Protein Summary
The NT5C protein is a 5',3'-nucleotidase localized in the cytosol. It dephosphorylates nucleoside monophosphates, contributing to nucleotide salvage and homeostasis. Structural studies indicate a conserved catalytic domain. Mutations impairing its activity are linked to hereditary spastic paraplegia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NT5C3B Knockout HEK293 Cell Line | EDJ-KQ7502 | Human | 115024 | Details Get a Quote |
| NT5C2 Knockout HEK293 Cell Line | EDJ-KQ7761 | Human | 22978 | Details Get a Quote |
| NT5C1A Knockout HEK293 Cell Line | EDJ-KQ10135 | Human | 84618 | Details Get a Quote |
| NT5C1B Knockout HEK293 Cell Line | EDJ-KQ11149 | Human | 93034 | Details Get a Quote |
| TENT5C Knockout HEK293 Cell Line | EDJ-KQ16973 | Human | 54855 | Details Get a Quote |
| NT5C2 Knockout A-549 Cell Line | EDJ-KQ33213 | Human | 22978 | Details Get a Quote |
| NT5C2 Knockout HCT 116 Cell Line | EDJ-KQ33214 | Human | 22978 | Details Get a Quote |
| NT5C2 Knockout HeLa Cell Line | EDJ-KQ33215 | Human | 22978 | Details Get a Quote |
| NT5C3B Knockout A-549 Cell Line | EDJ-KQ32763 | Human | 115024 | Details Get a Quote |
| NT5C3B Knockout HCT 116 Cell Line | EDJ-KQ32764 | Human | 115024 | Details Get a Quote |
| NT5C3B Knockout HeLa Cell Line | EDJ-KQ32765 | Human | 115024 | Details Get a Quote |
| NT5C Knockout HEK293 Cell Line | EDJ-KQ51255 | Human | 30833 | Details Get a Quote |
| NT5C3A Knockout HEK293 Cell Line | EDJ-KQ51298 | Human | 51251 | Details Get a Quote |
| NT5C1B-RDH14 Knockout HEK293 Cell Line | EDJ-KQ52477 | Human | 100526794 | Details Get a Quote |
| NT5C Knockout HeLa Cell Line | EDJ-KQ56155 | Human | 30833 | Details Get a Quote |
Displaying Records 1 To 15 Of 32 Records
- 1
- 2
- Next Page »
