Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:22019594

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.

A C8orf38/NDUFAF6 mutation causes near-absent steady-state complex I and defective biogenesis of the mtDNA-encoded ND1 subunit; wild-type C8orf38 complementation restores both, establishing NDUFAF6 as an early-stage complex I assembly factor required for ND1 biogenesis.

PMID:34800366

Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.

NDUFAF6 is included in the MitoCoP high-confidence human mitochondrial proteome, corroborating its mitochondrial localization.

PMID:18614015

A mitochondrial protein compendium elucidates complex I disease biology.

Identified C8orf38 (NDUFAF6) as a complex I assembly factor via a mitochondrial protein compendium and a complex-I-deficiency patient variant; one of the two references underlying the UniProt FUNCTION statement.

Reactome:R-HSA-6799179

Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex

Reactome:R-HSA-6799191

Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex

Reactome:R-HSA-6799196

The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I

Reactome:R-HSA-6799197

ND4, ND5 bind the 550kDa complex to form the 815kDa complex

Reactome:R-HSA-6799202

The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex