Seroatlas · Human Serome Atlas

NDUFA4

Cytochrome c oxidase subunit NDUFA4

Also known as: CI-9k, COXFA4, MISTR1, MLRQ, MRCAF1, NDUA4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O00483
Gene: NDUFA4
Ensembl: ENSG00000189043
Chromosome: 7
Canonical length: 81 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

81 residues, UniProt reviewed canonical sequence.

>O00483|NDUFA4
     1  MLRQIIGQAK KHPSLIPLFV FIGTGATGAT LYLLRLALFN PDVCWDRNNP EPWNKLGPND
    61  QYKFYSVNVD YSKLKKERPD F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFA4 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: 1
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 609 nTPM

Expression across tissuesHPA

Tissue

tongue: 609 nTPM
heart muscle: 520 nTPM
skeletal muscle: 491 nTPM
amygdala: 336 nTPM
cerebral cortex: 282 nTPM
hippocampal formation: 245 nTPM

Single-cell type

parietal cells: 7,487 nCPM
gastric progenitor cells: 2,344 nCPM
hepatocytes: 2,069 nCPM
megakaryocytes: 1,817 nCPM
decidual stromal cells: 1,683 nCPM
esophageal suprabasal cells: 1,643 nCPM

Immune cell

basophil: 237 nTPM
total PBMC: 192 nTPM
eosinophil: 161 nTPM
non-classical monocyte: 147 nTPM
myeloid DC: 139 nTPM
intermediate monocyte: 136 nTPM

Brain region

cerebral cortex: 115 nTPM
hypothalamus: 112 nTPM
hippocampal formation: 105 nTPM
white matter: 99 nTPM
pons: 95 nTPM
thalamus: 92 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFA4.

Disease | AllUniProt

Conditions NDUFA4 is implicated in, by any mechanism.

Mitochondrial complex IV deficiency, nuclear type 21 (MC4DN21) MIM:619065

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): 1.4
gnomAD pLI: 0.02
gnomAD missense Z: 0.01
DepMap mean gene effect: -0.38
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NDUFA4 as an antibody target. Whether an autoantibody or antibody against NDUFA4 could matter depends on whether native NDUFA4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NDUFA4 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 NDUFA4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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