NDUFS4
NDUFS4 Gene Summary
This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NDUFS4 |
| Official Name | NADH:ubiquinone oxidoreductase subunit S4 [Source:HGNC Symbol;Acc:HGNC:7711] |
| Ensembl ID | ENSG00000164258 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase subunit S4, complex I 18kDa subunit |
| Synonyms | 18 kda subunit of complex i,6720411N02RIK,AQDQ,C1-18k,CI-18,CI-18 kDa,CI-AQDQ,Complex I-18 kDa,MC1DN1,NADH:ubiquinone oxidoreductase core subunit S4,NADH:ubiquinone oxidoreductase subunit S4 |
| Species | Human, Homo sapiens |
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 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)
- NADH dehydrogenase ubiquinone Fe-S protein 4
Pathways
Biological processes and signaling networks where the NDUFS4 gene 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.
binds
- RPUSD4
- SNCA
- NDUFA8
- COX15
- GOLT1B
- NDUFV1
- TUFM
- LRPPRC
- ACAD9
- DDX28
disease
- dyspnea
- hypotonia
- nuclear type 1 mitochondrial complex I deficiency
- obesity
- Leigh syndrome
- COVID-19
- seizures
- multiple sclerosis
- chromophobe renal cell carcinoma
- chromophobe renal cancer
regulated by
- TFRC
- nicotine
- RB1
- canagliflozin
- ompenaclid
- levodopa
- RICTOR
- CAB39L
- SAMMSON
- UQCC3
regulates
- IL1B
- TNF
- TGFB1
- reactive oxygen species
- CASP8
- UCP1
- lactic acid
- FGFR1
- Mitochondrial ETC 1
- DIO2
role in cell
- apoptosis
- formation
- abnormal morphology
- degeneration
- morphology
- loss
- development
- cycling
- sprouting angiogenesis by
- cycling 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 NDUFS4 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- reactive oxygen species metabolic process
- transmembrane transport
- regulation of protein phosphorylation
- mitochondrial electron transport, NADH to ubiquinone
- positive regulation of fibroblast proliferation
- response to cAMP
- cellular respiration
- mitochondrial respiratory chain complex I assembly
- brain development
- 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
- NADH dehydrogenase (ubiquinone) activity