NDUFB3 Gene Summary [Human]

This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]

Details

Type
Protein Coding
Official Symbol
NDUFB3
Official Name
NADH:ubiquinone oxidoreductase subunit B3 [Source:HGNC Symbol;Acc:HGNC:7698]
Ensembl ID
ENSG00000119013
Bio databases IDs NCBI: 4709 Ensembl: ENSG00000119013
Aliases NADH:ubiquinone oxidoreductase subunit B3, complex I B12 subunit
Synonyms 2700033I16Rik, B12, CI-B12, MC1DN25, NADH:ubiquinone oxidoreductase subunit B3
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 NDUFB3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • NADH-ubiquinone oxidoreductase B12 subunit family
  • enzyme
  • NADH2 dehydrogenase (ubiquinone)

Pathways

Biological processes and signaling networks where the NDUFB3 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
  • insulin resistance
  • Huntington disease
  • hereditary disorder
  • septic shock
  • nuclear type 25 mitochondrial complex I deficiency
  • mitochondrial disorder
  • Mitochondrial complex I deficiency
  • adult acute myeloid leukemia
  • chromophobe renal cell carcinoma
  • chromophobe renal cancer
regulated by

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 NDUFB3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • transmembrane transport
  • mitochondrial electron transport, NADH to ubiquinone
  • 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
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • NADH dehydrogenase (ubiquinone) activity

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.