URAD
Ureido-2-imidazolidinone-4-carboxylate Decarboxylase
Gene Information Card
| Symbol | URAD |
|---|---|
| Full Name | Ureido-2-imidazolidinone-4-carboxylate decarboxylase |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.13 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000188739 |
| UniProt ID | Q6NUM9 |
| OMIM ID | 617093 |
| HGNC ID | 37212 |
| Aliases | MGC16169, URAD1 |
Description
URAD encodes ureido-2-imidazolidinone-4-carboxylate decarboxylase, an enzyme involved in the degradation of allantoin in the uric acid degradation pathway. This gene is primarily expressed in the kidney and liver and is associated with uric acid metabolism disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Uric acid metabolism disorder | Deficiency in URAD leads to accumulation of ureido-2-imidazolidinone-4-carboxylate, disrupting allantoin degradation | OMIM #617093 |
| Renal disease | Altered URAD expression may contribute to kidney stone formation via uric acid pathway dysregulation | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Small intestine | 2.1 | Low |
| Testis | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | RNA-seq data |
| HepG2 | 7.8 | RNA-seq data |
| HK-2 | 15.1 | Kidney proximal tubule cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Predicted loss of function |
| c.100C>T | Nonsense | <0.01% | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants predicted to reduce or abolish decarboxylase 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)
| • carboxy-lyase activity (GO:0016831) | • allantoin catabolic process (GO:0000256) |
| • cytoplasm (GO:0005737) |
Pathways
• Uric acid degradation (allantoin pathway)
Protein Summary
URAD encodes a 229-amino acid protein that functions as a decarboxylase in the uric acid degradation pathway, converting ureido-2-imidazolidinone-4-carboxylate to allantoin. The protein is localized in the cytoplasm and is highly expressed in kidney and liver tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| URAD Knockout HEK293 Cell Line | EDJ-KQ16045 | Human | 646625 | Details Get a Quote |
| URAD Knockout HeLa Cell Line | EDJ-KQ60609 | Human | 646625 | Details Get a Quote |
| URAD Knockout A-549 Cell Line | EDJ-KQ69079 | Human | 646625 | Details Get a Quote |
| URAD Knockout HCT 116 Cell Line | EDJ-KQ77432 | Human | 646625 | Details Get a Quote |
