NUDT3
Nudix Hydrolase 3 – Regulator of Inositol Pyrophosphate and mRNA Decapping
Gene Information Card
| Symbol | NUDT3 |
|---|---|
| Full Name | nudix hydrolase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.2 |
| NCBI Gene ID | 11165 ncbi.nlm.nih.gov/gene/11165 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | O95989 |
| OMIM ID | 609228 |
| HGNC ID | 8053 |
| Aliases | DIPP, DIPP1, DIPP-1, hDIPP, NUDT3 |
Description
NUDT3 (nudix hydrolase 3) encodes a member of the nudix hydrolase family. The protein hydrolyzes diphosphoinositol polyphosphates (e.g., PP-IP4, PP-IP5) and also exhibits mRNA decapping activity by cleaving the 5' cap structure. It is involved in inositol phosphate metabolism, mRNA turnover, and cellular signaling. The gene is located on chromosome 6p21.2 and is widely expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered NUDT3 expression may affect inositol pyrophosphate signaling and mRNA stability, contributing to tumorigenesis. | COSMIC; literature |
| Type 2 diabetes | Variants in NUDT3 have been associated with fasting glucose and insulin levels in GWAS. | ClinVar; GWAS catalog |
| Obesity | NUDT3 polymorphisms linked to body mass index and metabolic traits. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 9.8 | Medium |
| Kidney | 8.2 | Medium |
| Heart | 7.1 | Low |
| Lung | 6.5 | Low |
| Testis | 15.3 | High |
| Spleen | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical cancer cells |
| K562 | 7.5 | Leukemia cells |
| HepG2 | 9.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional effect; rare variant |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% | Reported in ClinVar; uncertain significance |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss variant (p.Met1Val) likely abolishes protein translation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT: R-HSA-1483249 – Inositol phosphate metabolism
• REACT: R-HSA-1660499 – Synthesis of IP3 and IP4 in the cytosol
• REACT: R-HSA-429958 – mRNA decay by 5' to 3' exoribonuclease
Protein Summary
NUDT3 is a 172-amino acid protein (UniProt O95989) belonging to the nudix hydrolase superfamily. It contains a conserved nudix box motif (GX5EX7REUXEEXGU, where U is a hydrophobic residue). The enzyme hydrolyzes diphosphoinositol polyphosphates (e.g., PP-IP4, PP-IP5) to inositol polyphosphates and inorganic phosphate, regulating cellular inositol pyrophosphate levels. Additionally, NUDT3 has mRNA decapping activity, cleaving the 5' cap (m7GpppN) to yield m7GDP and 5'-monophosphate RNA, thereby influencing mRNA stability and gene expression. The protein is predominantly cytoplasmic and widely expressed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT3 Knockout HEK293 Cell Line | EDJ-KQ7311 | Human | 11165 | Details Get a Quote |
| NUDT3 Knockout A-549 Cell Line | EDJ-KQ32370 | Human | 11165 | Details Get a Quote |
| NUDT3 Knockout HCT 116 Cell Line | EDJ-KQ32371 | Human | 11165 | Details Get a Quote |
| NUDT3 Knockout HeLa Cell Line | EDJ-KQ32372 | Human | 11165 | Details Get a Quote |
| RPS10-NUDT3 Knockout HEK293 Cell Line | EDJ-KQ52495 | Human | 100529239 | Details Get a Quote |
| RPS10-NUDT3 Knockout HeLa Cell Line | EDJ-KQ60958 | Human | 100529239 | Details Get a Quote |
| RPS10-NUDT3 Knockout A-549 Cell Line | EDJ-KQ69433 | Human | 100529239 | Details Get a Quote |
| RPS10-NUDT3 Knockout HCT 116 Cell Line | EDJ-KQ77784 | Human | 100529239 | Details Get a Quote |
