ATP5F1E Gene Summary [Human]
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]
Details
| Type | Protein Coding |
| Official Symbol | ATP5F1E |
| Official Name | ATP synthase F1 subunit epsilon [Source:HGNC Symbol;Acc:HGNC:838] |
| Ensembl ID | ENSG00000124172 |
| Bio databases IDs | |
| Aliases | ATP synthase F1 subunit epsilon |
| Synonyms | 2410043G19Rik, ATP5E, ATPE, Atp Synthase Epsilon, ATP synthase F1 subunit epsilon, ATP synthase F1 subunit ε, Atp Synthase ε, H+ ATP Synthase Epsilon, H+ ATP Synthase ε, MC5DN3 |
| 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 ATP5F1E often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- eukaryotic mitochondrial ATP synthase epsilon subunit
- protein binding
- hydrogen-transporting ATP synthase activity, rotational mechanism
- H+-exporting ATPase
- ATPase
- transporter
Pathways
Biological processes and signaling networks where the ATP5F1E 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
- chronic obstructive pulmonary disease
- hepatocellular carcinoma
- non-insulin-dependent diabetes mellitus
- metabolic syndrome X
- mitochondrial complex V deficiency nuclear type 3
- liver cancer
- epithelial cancer
- Huntington disease
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
- cristae-like membrane
- cell cortex
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP5F1E gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ATP synthesis coupled proton transport
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)
- mitochondrial matrix
- 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
- hydrolase activity