UROS Gene Summary [Human]
The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | UROS |
| Official Name | uroporphyrinogen III synthase [Source:HGNC Symbol;Acc:HGNC:12592] |
| Ensembl ID | ENSG00000188690 |
| Bio databases IDs | |
| Aliases | uroporphyrinogen III synthase, congenital erythropoietic porphyria |
| Synonyms | AI415298, UROIIIS, uroporphyrinogen III synthase, Uros3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UROS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- uroporphyrinogen-III synthase
- folic acid binding
- enzyme
- HemD
- Uroporphyrinogen-III synthase HemD
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UROS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heme O biosynthetic process
- response to platinum ion
- uroporphyrinogen III biosynthetic process
- cellular response to arsenic-containing substance
- heme biosynthetic process
- heme a biosynthetic process
- protoporphyrinogen IX biosynthetic process
- cellular response to amine stimulus
- heme b biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- folic acid binding
- uroporphyrinogen-III synthase activity