UROC1 Gene (Urocanate Hydratase 1)
UROC1 encodes urocanate hydratase, an enzyme involved in histidine catabolism; deficiency causes urocanic aciduria.
Gene Information Card
| Symbol | UROC1 |
|---|---|
| Full Name | Urocanate Hydratase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 131669 ncbi.nlm.nih.gov/gene/131669 |
| Ensembl ID | ENSG00000163882 |
| UniProt ID | Q96N66 |
| OMIM ID | 613913 |
| HGNC ID | 26471 |
| Aliases | URO1, UROC, urocanase |
Description
UROC1 (urocanate hydratase 1) encodes urocanase, an enzyme that catalyzes the second step of histidine degradation, converting urocanic acid to 4-imidazolone-5-propionic acid. Mutations in UROC1 cause urocanic aciduria (OMIM #276880), a rare autosomal recessive disorder characterized by elevated urocanic acid in urine and neurological symptoms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Urocanic aciduria | Loss-of-function mutations in UROC1 impair urocanate hydratase activity, leading to accumulation of urocanic acid and secondary metabolic disturbances. | ClinVar, OMIM #276880 |
| Histidinemia (differential) | UROC1 deficiency can mimic histidinemia due to shared histidine catabolism pathway; biochemical testing distinguishes. | OMIM #235800 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Skin | 5.1 | Low |
| Small intestine | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte line |
| HEK293 | 6.8 | Embryonic kidney |
| HaCaT | 4.5 | Keratinocyte |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.143G>A (p.Trp48*) | Nonsense | Rare | Loss of function |
| c.632T>C (p.Leu211Pro) | Missense | Rare | Likely loss of function |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported UROC1 mutations are nonsense or missense that abolish or severely reduce urocanate hydratase activity, leading to urocanic aciduria.
Gain of Function (GOF)
No gain-of-function mutations have been described for UROC1.
Dominant Negative (DN)
No dominant-negative effects reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • urocanate hydratase activity (GO:0016153) | • histidine catabolic process (GO:0006548) |
| • cytoplasm (GO:0005737) |
Pathways
• Histidine metabolism (KEGG: hsa00340)
• Urocanic acid degradation (Reactome: R-HSA-6788656)
Protein Summary
Urocanate hydratase (EC 4.2.1.49) is a homodimeric cytosolic enzyme that catalyzes the reversible hydration of urocanic acid to 4-imidazolone-5-propionic acid. It requires NAD+ as a cofactor. Deficiency leads to urocanic aciduria, with clinical features including intellectual disability, ataxia, and skin photosensitivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UROC1 Knockout HEK293 Cell Line | EDJ-KQ8511 | Human | 131669 | Details Get a Quote |
| UROC1 Knockout HeLa Cell Line | EDJ-KQ58301 | Human | 131669 | Details Get a Quote |
| UROC1 Knockout A-549 Cell Line | EDJ-KQ66789 | Human | 131669 | Details Get a Quote |
| UROC1 Knockout HCT 116 Cell Line | EDJ-KQ75192 | Human | 131669 | Details Get a Quote |
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