NUDT19
Nudix Hydrolase 19
Gene Information Card
| Symbol | NUDT19 |
|---|---|
| Full Name | nudix hydrolase 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 390916 ncbi.nlm.nih.gov/gene/390916 |
| Ensembl ID | ENSG00000160193 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 609200 |
| HGNC ID | 26423 |
| Aliases | RP2, dJ1181N3.1, NUDT19 |
Description
NUDT19 (nudix hydrolase 19) encodes a member of the Nudix hydrolase family. The protein catalyzes the hydrolysis of nucleoside diphosphate derivatives, particularly Coenzyme A (CoA) and its derivatives, playing a role in CoA homeostasis and cellular metabolism. It is localized to the peroxisome and mitochondria.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa 2 (RP2) | Mutations in NUDT19 (historically referred to as RP2) cause X-linked retinitis pigmentosa. The mechanism involves disrupted protein trafficking and ciliary function. | OMIM: 609200; ClinVar |
| Retinal Dystrophy | Loss-of-function variants in NUDT19 are associated with progressive retinal degeneration. | ClinVar; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Liver | 8.2 | Low |
| Kidney | 6.1 | Low |
| Retina | 15.3 | Medium |
| Brain | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 14.2 | High expression relevant to retinal function |
| HepG2 (liver) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42Cys) | Missense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.353G>A (p.Arg118His) | Missense | Rare | Likely pathogenic; disrupts protein stability |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations in NUDT19 lead to reduced or absent hydrolase activity, impairing CoA metabolism and retinal cell survival.
Gain of Function (GOF)
No gain-of-function mutations are currently documented.
Dominant Negative (DN)
No dominant-negative effects have been reported.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • nucleoside diphosphate phosphatase activity |
| • CoA diphosphatase activity | • peroxisome |
| • mitochondrion | • ciliary basal body |
Pathways
• Coenzyme A metabolism
• Nucleotide metabolism
Protein Summary
NUDT19 is a 236-amino acid protein containing a nudix hydrolase domain. It hydrolyzes CoA and CoA derivatives to 3',5'-ADP and 4'-phosphopantetheine, regulating intracellular CoA levels. The protein localizes to peroxisomes and mitochondria, and is essential for retinal photoreceptor function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT19 Knockout HEK293 Cell Line | EDC90739 | Human | 390916 | Details Get a Quote |
| NUDT19 Knockout A-549 Cell Line | EDJ-KQ44796 | Human | 390916 | Details Get a Quote |
| NUDT19 Knockout HCT 116 Cell Line | EDJ-KQ44798 | Human | 390916 | Details Get a Quote |
| NUDT19 Knockout HeLa Cell Line | EDJ-KQ44799 | Human | 390916 | Details Get a Quote |
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