NUDT11
Nudix Hydrolase 11
Gene Information Card
| Symbol | NUDT11 |
|---|---|
| Full Name | nudix hydrolase 11 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.22 |
| NCBI Gene ID | 55190 ncbi.nlm.nih.gov/gene/55190 |
| Ensembl ID | ENSG00000196352 |
| UniProt ID | Q96G61 |
| OMIM ID | 300783 |
| HGNC ID | 17625 |
| Aliases | DIPP2, DIPP-2, NUDT11A, NUDT11B |
Description
NUDT11 (nudix hydrolase 11) encodes a member of the nudix hydrolase family. The protein catalyzes the hydrolysis of diphosphoinositol polyphosphates, such as diphosphoinositol pentakisphosphate (IP7) and bis-diphosphoinositol tetrakisphosphate (IP8), to inositol hexakisphosphate (IP6). It plays a role in cellular signaling and phosphate metabolism. The gene is located on the X chromosome and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Heart | 4.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Inositol phosphate metabolism (Reactome: R-HSA-1483249)
• Diphosphoinositol polyphosphate metabolism
Protein Summary
The NUDT11 protein is a 164-amino acid nudix hydrolase that specifically cleaves diphosphoinositol polyphosphates. It contains a conserved nudix box motif (GX5EX7REUXEEXGU, where U is a hydrophobic residue) and requires magnesium ions for activity. The enzyme converts IP7 and IP8 to IP6, regulating cellular inositol pyrophosphate levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT11 Knockout HEK293 Cell Line | EDJ-KQ13758 | Human | 55190 | Details Get a Quote |
| NUDT11 Knockout A-549 Cell Line | EDJ-KQ44789 | Human | 55190 | Details Get a Quote |
| NUDT11 Knockout HeLa Cell Line | EDJ-KQ56548 | Human | 55190 | Details Get a Quote |
| NUDT11 Knockout HCT 116 Cell Line | EDJ-KQ73489 | Human | 55190 | Details Get a Quote |
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