NDUFAF1

Protein identityUniProt · HPA

UniProt accession

Q9Y375

Gene

NDUFAF1

Ensembl

ENSG00000137806

Chromosome

15

Canonical length

327 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

327 residues, UniProt reviewed canonical sequence.

>Q9Y375|NDUFAF1
     1  MALVHKLLRG TYFLRKFSKP TSALYPFLGI RFAEYSSSLQ KPVASPGKAS SQRKTEGDLQ
    61  GDHQKEVALD ITSSEEKPDV SFDKAIRDEA IYHFRLLKDE IVDHWRGPEG HPLHEVLLEQ
   121  AKVVWQFRGK EDLDKWTVTS DKTIGGRSEV FLKMGKNNQS ALLYGTLSSE APQDGESTRS
   181  GYCAMISRIP RGAFERKMSY DWSQFNTLYL RVRGDGRPWM VNIKEDTDFF QRTNQMYSYF
   241  MFTRGGPYWQ EVKIPFSKFF FSNRGRIRDV QHELPLDKIS SIGFTLADKV DGPFFLEIDF
   301  IGVFTDPAHT EEFAYENSPE LNPRLFK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFAF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

58 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFAF1.

Disease | AllUniProt

Conditions NDUFAF1 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) MIM:618234

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 200 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 11

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.91

gnomAD pLI

0

gnomAD missense Z

-0.44

DepMap mean gene effect

-0.53

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chaperone-mediated protein complex assembly
• mitochondrial electron transport, NADH to ubiquinone
• mitochondrial respiratory chain complex I assembly
• protein-containing complex assembly

Molecular functions

• unfolded protein binding

Cellular components

• cytosol
• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Galactose-binding-like domain superfamily
• NADH:ubiquinone oxidoreductase intermediate-associated protein 30
• Complex I intermediate-associated protein 30, mitochondrial
• Complex I intermediate-associated protein 30 (CIA30)

KeywordsUniProt

• Chaperone
• Mitochondrion
• Phosphoprotein
• Primary mitochondrial disease
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of NDUFAF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ACAD9
• ECSIT
• TMEM242
• TMEM70
• NDUFAF4
• PPP2R1A
• PPP2R2D
• TIMMDC1