NDUFAF3

Protein identityUniProt · HPA

UniProt accession

Q9BU61

Gene

NDUFAF3

Ensembl

ENSG00000178057

Chromosome

3

Canonical length

184 aa

Protein class

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

OverviewNCBI Gene

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

Canonical amino-acid sequenceUniProt

184 residues, UniProt reviewed canonical sequence.

>Q9BU61|NDUFAF3
     1  MATALALRSL YRARPSLRCP PVELPWAPRR GHRLSPADDE LYQRTRISLL QREAAQAMYI
    61  DSYNSRGFMI NGNRVLGPCA LLPHSVVQWN VGSHQDITED SFSLFWLLEP RIEIVVVGTG
   121  DRTERLQSQV LQAMRQRGIA VEVQDTPNAC ATFNFLCHEG RVTGAALIPP PGGTSLTSLG
   181  QAAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFAF3 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

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

315 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFAF3.

Disease | AllUniProt

Conditions NDUFAF3 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) MIM:618240

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 136 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 18

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)

1.07

gnomAD pLI

0.01

gnomAD missense Z

-0.49

DepMap mean gene effect

-0.4

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

• mitochondrial respiratory chain complex I assembly

Cellular components

• mitochondrial inner membrane
• mitochondrion
• nucleus

Protein domainsUniProt · Pfam · InterPro

• NDUFAF3/Mth938 domain-containing protein
• MTH938-like superfamily
• Protein of unknown function (DUF498/DUF598)
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

KeywordsUniProt

• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Nucleus
• Primary mitochondrial disease

InteractionsUniProt · HPA

Protein binding partners of NDUFAF3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFAF4
• NDUFS2
• NDUFS3
• NDUFS7