Seroatlas · Human Serome Atlas

NDUFS3

NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial

Also known as: CI-30, NDUS3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O75489
Gene
NDUFS3
Ensembl
ENSG00000213619
Chromosome
11
Canonical length
264 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nuclear bodies,Mitochondria,Principal piece

OverviewNCBI Gene

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

Canonical amino-acid sequenceUniProt

264 residues, UniProt reviewed canonical sequence.

>O75489|NDUFS3
     1  MAAAAVARLW WRGILGASAL TRGTGRPSVL LLPVRRESAG ADTRPTVRPR NDVAHKQLSA
    61  FGEYVAEILP KYVQQVQVSC FNELEVCIHP DGVIPVLTFL RDHTNAQFKS LVDLTAVDVP
   121  TRQNRFEIVY NLLSLRFNSR IRVKTYTDEL TPIESAVSVF KAANWYEREI WDMFGVFFAN
   181  HPDLRRILTD YGFEGHPFRK DFPLSGYVEL RYDDEVKRVV AEPVELAQEF RKFDLNSPWE
   241  AFPVYRQPPE SLKLEAGDKK PDAK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFS3 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)
0.44
Highest tissue expression
319 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 319 nTPM
  • heart muscle: 231 nTPM
  • basal ganglia: 200 nTPM
  • tongue: 181 nTPM
  • cerebral cortex: 144 nTPM
  • midbrain: 137 nTPM

Single-cell type

  • parietal cells: 343 nCPM
  • oocytes: 180 nCPM
  • hofbauer cells: 176 nCPM
  • enterocytes: 175 nCPM
  • enteric transient amplifying cells: 154 nCPM
  • late primary spermatocytes: 145 nCPM

Immune cell

  • total PBMC: 90 nTPM
  • plasmacytoid DC: 90 nTPM
  • myeloid DC: 83 nTPM
  • intermediate monocyte: 80 nTPM
  • classical monocyte: 70 nTPM
  • non-classical monocyte: 67 nTPM

Brain region

  • choroid plexus: 59 nTPM
  • cerebellum: 50 nTPM
  • thalamus: 50 nTPM
  • basal ganglia: 43 nTPM
  • hypothalamus: 43 nTPM
  • spinal cord: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFS3.

Disease | AllUniProt

Conditions NDUFS3 is implicated in, by any mechanism.

  • Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) MIM:618230

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 171 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.03
gnomAD pLI
0
gnomAD missense Z
-0.02
DepMap mean gene effect
-0.27
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

  • NADH:ubiquinone oxidoreductase, 30kDa subunit
  • NADH dehydrogenase, subunit C
  • NADH:ubiquinone oxidoreductase, 30kDa subunit, conserved site
  • NADH:ubiquinone oxidoreductase, 30kDa subunit superfamily
  • Respiratory-chain NADH dehydrogenase, 30 Kd subunit

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NDUFS3 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 NDUFS3 as an antibody target. Whether an autoantibody or antibody against NDUFS3 could matter depends on whether native NDUFS3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NDUFS3 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 NDUFS3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NDUFS3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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