UROC1 - urocanate hydratase 1 Gene
Also Known as UROCD; HMFN0320
Species: Homo sapiens (human)
Summary
This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021]
UROC1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001165974.2 | NP_001159446.1 | urocanate hydratase isoform 2 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables urocanate hydratase activity |
IDA
IDA: Inferred from direct assay
|
19304569 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in L-histidine catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
19304569 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
19304569 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
urocanate hydratase |
|
|
UROC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
UROC1 | Q96N76 | ALX1 | Homo sapiens | Q15699 | 32296183 | |
|
Intra
|
UROC1 | Q96N76 | ALX1 | Homo sapiens | Q15699 | 32296183 |