PCCA Gene Summary [Human]
The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | PCCA |
| Official Name | propionyl-CoA carboxylase subunit alpha [Source:HGNC Symbol;Acc:HGNC:8653] |
| Ensembl ID | ENSG00000175198 |
| Bio databases IDs | |
| Aliases | propionyl-CoA carboxylase subunit alpha |
| Synonyms | alphaPCC, Propionyl coa carboxylase alpha, propionyl-CoA carboxylase subunit alpha, propionyl-CoA carboxylase subunit α, Propionyl coa carboxylase α, propionyl-Coenzyme A carboxylase, alpha polypeptide, propionyl-Coenzyme A carboxylase, α polypeptide, αPCC |
| 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 PCCA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Propionyl-coenzyme A carboxylase BT domain
- biotin binding
- enzyme binding
- Biotin carboxylase C-terminal domain
- enzyme
- protein binding
- D-ala D-ala ligase C-terminus
- Biotinyl_lipoyl_domains
- acetyl-CoA carboxylase, biotin carboxylase subunit
- Carbamoyl-phosphate synthase L chain, ATP binding domain
- Biotin carboxylase, N-terminal domain
- Biotin-requiring enzyme
- propionyl-CoA carboxylase
- PRK12999
Pathways
Biological processes and signaling networks where the PCCA 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
- non-insulin-dependent diabetes mellitus
- propionic acidemia
- early onset hypertension
- dry skin
- refractive error
- ketoaciduria
- uterine leiomyoma
- leiomyomatosis
- myopia
- hepatic steatosis
regulates
- ammonia
- amino acids
- fatty acid
- glycogen
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
- mitochondrial matrix
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PCCA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- short-chain fatty acid catabolic process
- branched chain family amino acid metabolic process
- fatty acid metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- propionyl-CoA carboxylase activity
- protein binding
- metal ion binding
- biotin binding
- enzyme binding