Seroatlas · Human Serome Atlas

NDUFS6

NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial

Also known as: CI-13kA, NDUS6_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O75380
Gene
NDUFS6
Ensembl
ENSG00000145494
Chromosome
5
Canonical length
124 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

124 residues, UniProt reviewed canonical sequence.

>O75380|NDUFS6
     1  MAAAMTFCRL LNRCGEAARS LPLGARCFGV RVSPTGEKVT HTGQVYDDKD YRRIRFVGRQ
    61  KEVNENFAID LIAEQPVSEV ETRVIACDGG GGALGHPKVY INLDKETKTG TCGYCGLQFR
   121  QHHH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFS6 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)
0.49
Highest tissue expression
577 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 577 nTPM
  • heart muscle: 553 nTPM
  • tongue: 286 nTPM
  • liver: 225 nTPM
  • kidney: 224 nTPM
  • choroid plexus: 181 nTPM

Single-cell type

  • esophageal suprabasal cells: 739 nCPM
  • parietal cells: 690 nCPM
  • hepatocytes: 610 nCPM
  • esophageal basal cells: 585 nCPM
  • late primary spermatocytes: 567 nCPM
  • colonocytes: 559 nCPM

Immune cell

  • myeloid DC: 350 nTPM
  • plasmacytoid DC: 348 nTPM
  • intermediate monocyte: 344 nTPM
  • non-classical monocyte: 309 nTPM
  • classical monocyte: 285 nTPM
  • T-reg: 262 nTPM

Brain region

  • hypothalamus: 79 nTPM
  • choroid plexus: 68 nTPM
  • cerebellum: 66 nTPM
  • medulla oblongata: 65 nTPM
  • thalamus: 65 nTPM
  • cerebral cortex: 65 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFS6.

Disease | AllUniProt

Conditions NDUFS6 is implicated in, by any mechanism.

  • Mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) MIM:618232

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 252 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)
1.3
gnomAD pLI
0.1
gnomAD missense Z
-0.22
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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 dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
  • Zinc finger, CHCC-type
  • Zinc-finger domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NDUFS6 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 NDUFS6 as an antibody target. Whether an autoantibody or antibody against NDUFS6 could matter depends on whether native NDUFS6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NDUFS6 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 NDUFS6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NDUFS6. 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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