NUDT13
Nudix Hydrolase 13
Gene Information Card
| Symbol | NUDT13 |
|---|---|
| Full Name | nudix hydrolase 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 84261 ncbi.nlm.nih.gov/gene/84261 |
| Ensembl ID | ENSG00000119927 |
| UniProt ID | Q86X67 |
| OMIM ID | 615795 |
| HGNC ID | 26443 |
| Aliases | MGC13170, NUDT13B |
Description
NUDT13 (nudix hydrolase 13) is a protein-coding gene that belongs to the nudix hydrolase family. The encoded protein is localized to mitochondria and catalyzes the hydrolysis of nucleoside diphosphate derivatives, such as NADH and ADP-ribose, regulating cellular nucleotide pools and redox balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 4.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | missense | 0.0004 (gnomAD) | Unknown functional effect |
| c.458A>G (p.Tyr153Cys) | missense | 0.0002 (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • NADH pyrophosphatase activity | • ADP-ribose diphosphatase activity |
| • mitochondrion | • nucleotide metabolic process |
Pathways
• NAD+ metabolism
• Purine metabolism
Protein Summary
The NUDT13 protein is a mitochondrial nudix hydrolase that cleaves NADH and ADP-ribose, contributing to the regulation of mitochondrial nucleotide homeostasis and redox signaling. It is expressed at moderate levels in testis and kidney, with lower expression in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT13 Knockout HEK293 Cell Line | EDJ-KQ8322 | Human | 25961 | Details Get a Quote |
| NUDT13 Knockout A-549 Cell Line | EDJ-KQ34313 | Human | 25961 | Details Get a Quote |
| NUDT13 Knockout HCT 116 Cell Line | EDJ-KQ34314 | Human | 25961 | Details Get a Quote |
| NUDT13 Knockout HeLa Cell Line | EDJ-KQ34315 | Human | 25961 | Details Get a Quote |
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