Seroatlas · Human Serome Atlas

NDUFAF4

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Also known as: bA22L21.1, C6orf66, HRPAP20, HSPC125, My013, NDUF4_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9P032
Gene: NDUFAF4
Ensembl: ENSG00000123545
Chromosome: 6
Canonical length: 175 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Mitochondria,Cytosol

OverviewNCBI Gene

NADH:ubiquinone oxidoreductase (complex I) 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. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

175 residues, UniProt reviewed canonical sequence.

>Q9P032|NDUFAF4
     1  MGALVIRGIR NFNLENRAER EISKMKPSVA PRHPSTNSLL REQISLYPEV KGEIARKDEK
    61  LLSFLKDVYV DSKDPVSSLQ VKAAETCQEP KEFRLPKDHH FDMINIKSIP KGKISIVEAL
   121  TLLNNHKLFP ETWTAEKIMQ EYQLEQKDVN SLLKYFVTFE VEIFPPEDKK AIRSK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFAF4 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): 0.51
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

tongue: 29 nTPM
heart muscle: 24 nTPM
skeletal muscle: 22 nTPM
cerebral cortex: 20 nTPM
cerebellum: 14 nTPM
basal ganglia: 13 nTPM

Single-cell type

oocytes: 249 nCPM
parietal cells: 122 nCPM
esophageal basal cells: 111 nCPM
basal keratinocytes: 98 nCPM
suprabasal keratinocytes: 90 nCPM
differentiating spermatogonia: 90 nCPM

Immune cell

naive CD4 T-cell: 7.6 nTPM
naive CD8 T-cell: 6.9 nTPM
T-reg: 5.9 nTPM
memory CD8 T-cell: 5.4 nTPM
naive B-cell: 5.4 nTPM
MAIT T-cell: 5.3 nTPM

Brain region

cerebral cortex: 28 nTPM
cerebellum: 24 nTPM
thalamus: 24 nTPM
hypothalamus: 22 nTPM
pons: 21 nTPM
midbrain: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFAF4.

Disease | AllUniProt

Conditions NDUFAF4 is implicated in, by any mechanism.

Mitochondrial complex I deficiency, nuclear type 15 (MC1DN15) MIM:618237

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 140 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mitochondrial complex I deficiency

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): 0.72
gnomAD pLI: 0.55
gnomAD missense Z: 0.06
DepMap mean gene effect: -0.36
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

Molecular functions

calmodulin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
Uncharacterised protein family (UPF0240)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NDUFAF4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NDUFAF4 as an antibody target. Whether an autoantibody or antibody against NDUFAF4 could matter depends on whether native NDUFAF4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NDUFAF4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NDUFAF4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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