OTC Gene Summary [Human]
This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022]
Details
| Type | Protein Coding |
| Official Symbol | OTC |
| Official Name | ornithine transcarbamylase [Source:HGNC Symbol;Acc:HGNC:8512] |
| Ensembl ID | ENSG00000036473 |
| Bio databases IDs | |
| Aliases | ornithine transcarbamylase, ornithine transcarbamylase deficiency |
| Synonyms | OCTD, ornithine transcarbamylase, OTC1, OTCase, OTCD, POTC, Sf, spf |
| 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 OTC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- phospholipid binding
- Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain
- putrescine carbamoyltransferase
- enzyme
- ornithine carbamoyltransferase
- phosphate binding
- identical protein binding
- amino acid binding
Pathways
Biological processes and signaling networks where the OTC gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ornithine transcarbamylase deficiency
- diabetes mellitus
- Huntington disease
- liver cancer
- epithelial cancer
- hereditary disorder
- Reye syndrome
- hepatocellular carcinoma
- colorectal cancer
- rubella
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
- Plasma Membrane
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OTC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to zinc ion
- midgut development
- ornithine catabolic process
- response to xenobiotic stimulus
- ammonia homeostasis
- anion homeostasis
- response to insulin stimulus
- citrulline biosynthetic process
- urea cycle
- liver development
- arginine biosynthetic process via ornithine
- response to biotin
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- amino acid binding
- phosphate ion binding
- phospholipid binding
- ornithine carbamoyltransferase activity