NUDT14: Nudix Hydrolase 14
A member of the Nudix hydrolase family involved in nucleotide metabolism and cellular signaling.
Gene Information Card
| Symbol | NUDT14 |
|---|---|
| Full Name | Nudix Hydrolase 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 256281 ncbi.nlm.nih.gov/gene/256281 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9BZP3 |
| OMIM ID | 609230 |
| HGNC ID | 26423 |
| Aliases | UGPP, UDP-sugar diphosphatase, NUDT14 |
Description
NUDT14 (Nudix Hydrolase 14) encodes a member of the Nudix hydrolase family. The protein catalyzes the hydrolysis of UDP-sugars, such as UDP-glucose and UDP-glucuronic acid, to UMP and sugar-1-phosphate. This activity regulates nucleotide sugar pools and influences glycosylation and cellular signaling. The gene is located on chromosome 14q24.3 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 7.1 | Medium |
| Colon | 6.5 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 9.8 | Embryonic kidney cells |
| HeLa | 6.4 | Cervical carcinoma cells |
| K562 | 3.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.0004% (gnomAD) | Unknown functional effect |
| c.458G>A (p.Arg153Gln) | Missense | 0.0002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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
• UDP-sugar metabolism
• Nucleotide metabolism
Protein Summary
NUDT14 is a 224-amino acid protein (UniProt Q9BZP3) belonging to the Nudix hydrolase superfamily. It contains a conserved Nudix box motif (GX5EX7REUXEEXGU, where U is a hydrophobic residue). The enzyme specifically hydrolyzes UDP-sugars, releasing UMP and sugar-1-phosphate. This activity is important for maintaining nucleotide sugar homeostasis and may impact glycosylation pathways. The protein is localized in the cytoplasm and is expressed in liver, kidney, and other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT14 Knockout HEK293 Cell Line | EDJ-KQ11823 | Human | 256281 | Details Get a Quote |
| NUDT14 Knockout A-549 Cell Line | EDJ-KQ40237 | Human | 256281 | Details Get a Quote |
| NUDT14 Knockout HCT 116 Cell Line | EDJ-KQ40238 | Human | 256281 | Details Get a Quote |
| NUDT14 Knockout HeLa Cell Line | EDJ-KQ40239 | Human | 256281 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
