NDUFB11 Gene Summary [Human]
The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | NDUFB11 |
| Official Name | NADH:ubiquinone oxidoreductase subunit B11 [Source:HGNC Symbol;Acc:HGNC:20372] |
| Ensembl ID | ENSG00000147123 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase subunit B11, complex I NP17.3 subunit |
| Synonyms | CI-ESSS, D5Bwg0566e, D5Bwg0577e, ESSS, MC1DN30, NADH:ubiquinone oxidoreductase subunit B11, Neuronal protein 15.6, Np15, NP15.6, NP17.3, p15.6, P17.3, RGD1563698 |
| 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 NDUFB11 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
- ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)
Pathways
Biological processes and signaling networks where the NDUFB11 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
- mitochondrial disorder
- linear skin defects with multiple congenital anomalies 3
- hereditary sideroblastic anemia
- neurodevelopmental disorder
- nuclear type 30 mitochondrial complex I deficiency
- respiratory insufficiency
- infantile histiocytoid cardiomyopathy
- insulin resistance
regulates
- Mitochondrial ETC 1
role in cell
- proliferation
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
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFB11 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial respiratory chain complex I assembly
- aerobic respiration
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- respiratory chain complex I
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding