MT-ATP6 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 Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MT-ATP6 |
| Official Name | mitochondrially encoded ATP synthase membrane subunit 6 [Source:HGNC Symbol;Acc:HGNC:7414] |
| Ensembl ID | ENSG00000198899 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded ATP synthase membrane subunit 6, mitochondrially encoded ATP synthase membrane subunit a |
| Synonyms | ATP6, ATPase 6, Atpase subunit 6, Atpase Synthase F0 Subunit 6, ATP synthase a chain, ATP synthase F0 subunit 6, ATP SYNTHETASE U6, MITATPASE |
| 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 MT-ATP6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP synthase A chain
- protein binding
- hydrogen-transporting ATP synthase activity, rotational mechanism
- ATP synthase Fo complex, subunit 6 (eukaryotes) and subunit a (prokaryotes)
- ATPase
- transporter
- hydrogen ion channel
Pathways
Biological processes and signaling networks where the MT-ATP6 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
- Alzheimer disease
- schizophrenia
- mitochondrial type mitochondrial complex V deficiency type 1
- mitochondrial infantile bilateral striatal necrosis
- bicuspid aortic valve
- Leber optic atrophy
- Huntington disease
- mitochondrial disorder
- neurogenic ataxia and retinitis pigmentosa
- androgenic alopecia
role in cell
- growth
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
- cellular membrane
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MT-ATP6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to hyperoxia
- ATP synthesis coupled proton transport
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- 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