NT5C1A Gene
5'-Nucleotidase, Cytosolic IA
Gene Information Card
| Symbol | NT5C1A |
|---|---|
| Full Name | 5'-Nucleotidase, Cytosolic IA |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 84618 ncbi.nlm.nih.gov/gene/84618 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9BXI3 |
| OMIM ID | 610526 |
| HGNC ID | 17819 |
| Aliases | CN-IIIA, dNT-1, NT5C1A1 |
Description
NT5C1A encodes a cytosolic 5'-nucleotidase (EC 3.1.3.5) that preferentially dephosphorylates deoxyribonucleoside monophosphates (dNMPs) to deoxyribonucleosides and inorganic phosphate. The enzyme is involved in nucleotide metabolism, regulating intracellular dNTP pools and contributing to DNA synthesis and repair balance. It is also known as deoxyribonucleotidase 1 (dNT-1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome (possible) | Altered dNTP pool balance may impair mitochondrial DNA replication | Inferred from functional studies (UniProt) |
| Cancer (various) | Dysregulation of dNTP metabolism can affect cell proliferation and chemotherapy sensitivity | COSMIC mutation data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Moderate expression |
| K-562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.458G>A (p.Arg153Gln) | Missense | 0.002% (gnomAD) | Unknown functional effect |
| c.604C>T (p.Arg202Ter) | Nonsense | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg202Ter) likely lead to truncated protein and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • 5'-nucleotidase activity (GO:0008253) | • nucleotide catabolic process (GO:0009166) |
| • cytoplasm (GO:0005737) | • ATP binding (GO:0005524) |
Pathways
• Nucleotide metabolism (Reactome: R-HSA-15869)
• Purine metabolism (KEGG: hsa00230)
• Pyrimidine metabolism (KEGG: hsa00240)
Protein Summary
NT5C1A encodes a 36 kDa cytosolic enzyme that catalyzes the dephosphorylation of deoxyribonucleoside monophosphates (dNMPs) to deoxyribonucleosides. It is a member of the 5'-nucleotidase family and is highly specific for deoxyribonucleotides. The enzyme plays a key role in maintaining balanced dNTP pools, which is critical for DNA replication and repair. Its expression is highest in skeletal muscle and heart. Mutations in NT5C1A are rare but may contribute to nucleotide pool imbalances associated with mitochondrial disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NT5C1A Knockout HEK293 Cell Line | EDJ-KQ10135 | Human | 84618 | Details Get a Quote |
| NT5C1A Knockout HeLa Cell Line | EDJ-KQ57616 | Human | 84618 | Details Get a Quote |
| NT5C1A Knockout A-549 Cell Line | EDJ-KQ66115 | Human | 84618 | Details Get a Quote |
| NT5C1A Knockout HCT 116 Cell Line | EDJ-KQ74537 | Human | 84618 | Details Get a Quote |
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