NUDT16L1 Gene: Function, Expression, and Clinical Significance
Comprehensive resource on the NUDT16L1 (nudix hydrolase 16 like 1) gene, including genomic information, expression patterns, mutations, and related diseases.
Gene Information Card
| Symbol | NUDT16L1 |
|---|---|
| Full Name | nudix hydrolase 16 like 1 |
| Gene Type | gene with protein product |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 84309 ncbi.nlm.nih.gov/gene/84309 |
| Ensembl ID | ENSG00000168101 |
| UniProt ID | Q9BRJ7 |
| OMIM ID | 617338 |
| HGNC ID | HGNC:28154 |
| Aliases | SDOS, TIRR |
Description
NUDT16L1 (nudix hydrolase 16 like 1) is a protein-coding gene located on chromosome 16p13.3. It encodes a member of the nudix hydrolase family, which is characterized by the conserved nudix motif and typically functions in the hydrolysis of nucleoside diphosphate derivatives. NUDT16L1 has been implicated in various cellular processes, including RNA metabolism and DNA damage response. It is also known by the aliases SDOS and TIRR.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | NUDT16L1 may play a role in tumor suppression or promotion through its involvement in RNA metabolism and DNA repair pathways. Altered expression has been observed in certain cancers. | Expression data from TCGA and literature reports |
| Neurodevelopmental disorders | Potential involvement in neurodevelopment due to its expression in brain tissues and interaction with proteins involved in neural function. | Expression studies and protein interaction data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Low |
| Lung | 5.2 | Low |
| Liver | 3.1 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.5 | Moderate expression |
| A549 | 6.8 | Low expression |
| MCF7 | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% | Potential impact on protein stability or function |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% | May affect substrate binding |
| c.789delC (p.Arg264ValfsTer23) | Frameshift | 0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that lead to premature termination codons are likely to result in loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations currently.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • magnesium ion binding (GO:0000287) | • hydrolase activity (GO:0016787) |
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• RNA degradation
• DNA repair
Protein Summary
The NUDT16L1 protein is a nudix hydrolase that likely catalyzes the hydrolysis of nucleoside diphosphate derivatives, such as ADP-ribose and NADH. It is localized in the nucleus and cytoplasm and may participate in RNA metabolism and DNA damage response. Its exact substrates and biological functions are still under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT16L1 Knockout HEK293 Cell Line | EDJ-KQ51837 | Human | 84309 | Details Get a Quote |
| NUDT16L1 Knockout HeLa Cell Line | EDJ-KQ57579 | Human | 84309 | Details Get a Quote |
| NUDT16L1 Knockout A-549 Cell Line | EDJ-KQ66075 | Human | 84309 | Details Get a Quote |
| NUDT16L1 Knockout HCT 116 Cell Line | EDJ-KQ74497 | Human | 84309 | Details Get a Quote |
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