CYB5A Gene Summary [Human]
The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Details
| Type | Protein Coding |
| Official Symbol | CYB5A |
| Official Name | cytochrome b5 type A [Source:HGNC Symbol;Acc:HGNC:2570] |
| Ensembl ID | ENSG00000166347 |
| Bio databases IDs | |
| Aliases | cytochrome b5 type A |
| Synonyms | 0610009N12Rik, B5, CYB5, Cytb5, Cytochrome B-5, cytochrome b5 type A, cytochrome b5 type A (microsomal), MCB5, METAG |
| 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 CYB5A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- electron carrier
- stearoyl-CoA 9-desaturase
- linoleoyl-CoA desaturase
- ER targeting sequence
- transmembrane domain
- Cytochrome b5-like Heme/Steroid binding domain
- enzyme binding
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- liver cancer
- cancer
- epithelial cancer
- adenoma formation
- aldosterone producing adrenocortical adenoma
- organismal death
- methemoglobinemia type IV
- global developmental delay with intellectual disability
- hepatitis B surface antigen-negative hepatitis C virus negative hepatocellular carcinoma
role in cell
- expression in
- apoptosis
- cell death
- inhibition in
- autophagy in
- autophagy
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
- pH resistant lipid raft fraction
- intracellular membrane-bounded organelle
- cellular membrane
- Nucleus
- vesicles
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- endoplasmic reticulum membrane
- microsome
- Golgi membrane
- mitochondrial outer membrane
- peroxisomes
- microsomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYB5A gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- membrane
- cytosol
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- cytochrome-c oxidase activity
- protein binding
- metal ion binding
- enzyme binding
- heme binding