NUDT7
Nudix Hydrolase 7
Gene Information Card
| Symbol | NUDT7 |
|---|---|
| Full Name | nudix hydrolase 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 283927 ncbi.nlm.nih.gov/gene/283927 |
| Ensembl ID | ENSG00000140968 |
| UniProt ID | Q8N7H5 |
| OMIM ID | 609230 |
| HGNC ID | 26424 |
| Aliases | NUDT7A, NUDT7B, YSA1H |
Description
NUDT7 encodes a member of the Nudix hydrolase family, which catalyzes the hydrolysis of nucleoside diphosphate derivatives, particularly Coenzyme A (CoA) and its derivatives. The enzyme plays a role in cellular CoA homeostasis and metabolic regulation. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect CoA metabolism and cellular proliferation; limited direct evidence. | ClinVar, COSMIC |
| Breast cancer | Somatic mutations and expression changes reported; potential role in metabolic reprogramming. | COSMIC, NCBI |
| Hepatocellular carcinoma | Dysregulation of NUDT7 expression observed; implications in lipid metabolism. | NCBI, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 2.4 | Low |
| Testis | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| MCF7 | 4.3 | Breast cancer cell line |
| A549 | 3.1 | Lung carcinoma cell line |
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 impact; rare population variant |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Likely loss of function; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Start-loss and nonsense variants likely lead to loss of function; missense variants may reduce hydrolase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • CoA hydrolase activity | • nucleoside diphosphate phosphatase activity |
| • CoA binding | • cytoplasm |
| • mitochondrion |
Pathways
• Coenzyme A metabolism
• Nudix hydrolase pathway
Protein Summary
NUDT7 is a 27 kDa protein belonging to the Nudix hydrolase superfamily. It specifically hydrolyzes Coenzyme A and its derivatives, releasing 3',5'-ADP and 4'-phosphopantetheine. The enzyme is localized in the cytoplasm and mitochondria, and is involved in regulating intracellular CoA levels. Structural studies reveal a conserved Nudix box motif (GX5EX7REUXEEXGU) essential for catalytic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT7 Knockout HEK293 Cell Line | EDJ-KQ10779 | Human | 283927 | Details Get a Quote |
| NUDT7 Knockout A-549 Cell Line | EDJ-KQ38403 | Human | 283927 | Details Get a Quote |
| NUDT7 Knockout HCT 116 Cell Line | EDJ-KQ38404 | Human | 283927 | Details Get a Quote |
| NUDT7 Knockout HeLa Cell Line | EDJ-KQ59418 | Human | 283927 | Details Get a Quote |
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