NDUFAF1
NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1, also known as CIA30 and CGI-65) is a mitochondrial protein that acts as a complex I assembly factor. As part of the MCIA complex, it is involved in building mitochondrial complex I. Browse Assay Genie's current range of NDUFAF1 research reagents below, or read on for the biology behind the target.
NDUFAF1 is an assembly factor rather than a structural subunit of the respiratory chain. According to UniProt, it acts as part of the MCIA complex and is involved in the assembly of mitochondrial complex I. Complex I (NADH-ubiquinone oxidoreductase) catalyses the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. NDUFAF1 is required for this large enzyme complex to be assembled correctly.
The protein is annotated as localising to the mitochondrion, specifically the mitochondrial matrix, and belongs to the CIA30 family. Its UniProt protein name is complex I intermediate-associated protein 30, mitochondrial, which is the origin of the alias CIA30. In HGNC, the NDUFAF1 gene is placed in the groups of mitochondrial respiratory chain complex assembly factors and the mitochondrial complex I assembly complex. The mouse ortholog is Ndufaf1. Researchers working with the NDUFAF1 protein often study it alongside other complex I assembly components.
The gene was previously named NADH dehydrogenase (ubiquinone) complex I, assembly factor 1, and CGI-65 is another earlier alias. NCBI Gene reports that mutations in this gene are a cause of mitochondrial complex I deficiency, which makes NDUFAF1 relevant to studies of mitochondrial disease. Alternatively spliced transcript variants have been observed, and a pseudogene of this gene is located on the long arm of chromosome 19, which is worth considering when designing NDUFAF1 gene expression assays.
NDUFAF1 acts within the MCIA complex and is required for assembly of complex I, making it a focus for studies of how the enzyme is built.
Mutations in the NDUFAF1 gene are a cause of mitochondrial complex I deficiency, linking the protein to inherited respiratory chain disorders.
Complex I carries out the first step of the respiratory chain, so its assembly factors are relevant to electron transfer and proton translocation.
NDUFAF1 is annotated to the mitochondrial matrix, which makes it a useful subject for sub-mitochondrial localisation and organelle proteomics studies.
NDUFAF1 is a complex I assembly factor. As part of the MCIA complex, it is involved in the assembly of mitochondrial complex I, the enzyme that transfers electrons from NADH to ubiquinone in the first step of the respiratory chain. It is not described as a catalytic enzyme itself.
NDUFAF1 is also called CIA30 and CGI-65. The UniProt name is complex I intermediate-associated protein 30, mitochondrial, and the gene was previously named NADH dehydrogenase (ubiquinone) complex I, assembly factor 1. Alternatively spliced transcript variants have been observed.
NCBI Gene reports that mutations in NDUFAF1 are a cause of mitochondrial complex I deficiency. The mouse ortholog is Ndufaf1, so it can be studied in mouse models; check the datasheet of any product for its validated reactivity.
Other complex I assembly factors, MCIA complex components and mitochondrial respiratory chain targets with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q9Y375; product specifications from Assay Genie datasheets.