NDUFAF1
Sign in to saveAlso known as CGI65, CIA30, CGI-65, NADH:ubiquinone oxidoreductase complex assembly factor 1, MC1DN11
Complex I intermediate-associated protein 30, mitochondrial (CIA30), or NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1 (NDUFAF1), is a protein that in humans is encoded by the NDUFAF1 or CIA30 gene. The NDUFAF1 gene encodes a human homolog of a Neurospora crassa protein involved in the assembly of complex I. The NDUFAF1 protein is an assembly factor of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Variants of the NDUFAF1 gene are associ
Gene data
NDUFAF1- Name
- NADH:ubiquinone oxidoreductase complex assembly factor 1
- Type
- protein-coding
- Aliases
- CGI-65, CGI65, CIA30, MC1DN11
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes 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. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011].
via MyGene.info
Gene · Ensembl
NADH:ubiquinone oxidoreductase complex assembly factor 1
- Symbol
- NDUFAF1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 15:41,387,218-41,409,403
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 32289
- exact match
- identifiers.org/ncbigene/51103
- genomic end
- 41409403
- genomic start
- 41387218
- cytogenetic location
- 15q15.1
Sources (3)
via Wikidata · CC0
~4 min read
Article
6 sectionsContents
- Structure
- Function
- Clinical significance
- Interactions
- References
- Further reading
Complex I intermediate-associated protein 30, mitochondrial (CIA30), or NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1 (NDUFAF1), is a protein that in humans is encoded by the NDUFAF1 or CIA30 gene. The NDUFAF1 gene encodes a human homolog of a Neurospora crassa protein involved in the assembly of complex I. The NDUFAF1 protein is an assembly factor of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Variants of the NDUFAF1 gene are associated with hypertrophic cardiomyopathy, leukodystrophy, and cardioencephalomyopathy.
== Structure == NDUFAF1 is located on the q arm of chromosome 15 in position 15.1. The NDUFAF1 gene produces a 37.8 kDa protein composed of 327 amino acids. NDUFAF1 is associated to complexes of 600 and 700 kDa. Complex I is structured in a bipartite L-shaped configuration, which is made up of a peripheral matrix arm, consisting of flavoproteins and iron-sulfur proteins involved in electron transfer, and a membrane arm, consisting of mtDNA-encoded subunits involved in ubiquinone reduction and proton pumping. NDUFAF1 has been shown to interact with assembly intermediates and may play roles in the correct assembly and combination of the peripheral arm to the complete membrane arm as well as in the stabilization and scaffolding of those intermediates through those close interactions.