MT-ATP8 Gene Summary [Human]
Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in mitochondrial ATP synthesis coupled proton transport. Part of mitochondrial proton-transporting ATP synthase complex. Implicated in multiple sclerosis and urinary bladder cancer. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MT-ATP8 |
| Official Name | mitochondrially encoded ATP synthase membrane subunit 8 [Source:HGNC Symbol;Acc:HGNC:7415] |
| Ensembl ID | ENSG00000228253 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded ATP synthase membrane subunit 8, mitochondrially encoded ATP synthase membrane subunit A6L |
| Synonyms | ATP8, ATPase8, ATP synthase F0 subunit 8 |
| Species | Human, Homo sapiens |
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 MT-ATP8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme
- protein binding
- hydrogen-transporting ATP synthase activity, rotational mechanism
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic lupus erythematosus
- head and neck cancer
- precursor B-cell acute lymphoblastic leukemia
- Huntington disease
- androgenic alopecia
- abnormal aortic valve physiology
- mitochondrial disorder
- infantile hypertrophic cardiomyopathy
- bicuspid aortic valve
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
- mitochondrial membrane
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MT-ATP8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial ATP synthesis coupled proton transport
- ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)
- mitochondrial inner membrane
- mitochondrial proton-transporting ATP synthase complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- hydrogen ion transporting ATP synthase activity, rotational mechanism