NDUFA11 Gene Summary [Human]

This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

Details

Type
Protein Coding
Official Symbol
NDUFA11
Official Name
NADH:ubiquinone oxidoreductase subunit A11 [Source:HGNC Symbol;Acc:HGNC:20371]
Ensembl ID
ENSG00000174886
Bio databases IDs NCBI: 126328 Ensembl: ENSG00000174886
Aliases NADH:ubiquinone oxidoreductase subunit A11, complex I B14.7 subunit
Synonyms 2010012C24Rik, AV006275, B14.7, CI-B14.7, Complex I-B14.7, MC1DN14, NADH:ubiquinone oxidoreductase subunit A11, ZINC FINGER
Species
Human, Homo sapiens
OrthologiesMouseRat

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 NDUFA11 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
  • NADH2 dehydrogenase (ubiquinone)
  • Tim17/Tim22/Tim23/Pmp24 family

Pathways

Biological processes and signaling networks where the NDUFA11 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
  • adult acute myeloid leukemia
  • lung squamous cell carcinoma
  • squamous cell lung cancer
  • chromophobe renal cell carcinoma
  • chromophobe renal cancer
  • nuclear type 14 mitochondrial complex I deficiency
  • insulin resistance
regulated by
regulates
role in cell
  • expression in
  • phosphorylation in
  • production in

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
  • Mitochondria
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NDUFA11 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.