Seroatlas · Human Serome Atlas

NDUFS7

NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial

Also known as: CI-20, FLJ45860, FLJ46880, NDUS7_HUMAN, PSST

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

Protein identityUniProt · HPA

UniProt accession
O75251
Gene
NDUFS7
Ensembl
ENSG00000115286
Chromosome
19
Canonical length
213 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

213 residues, UniProt reviewed canonical sequence.

>O75251|NDUFS7
     1  MAVLSAPGLR GFRILGLRSS VGPAVQARGV HQSVATDGPS STQPALPKAR AVAPKPSSRG
    61  EYVVAKLDDL VNWARRSSLW PMTFGLACCA VEMMHMAAPR YDMDRFGVVF RASPRQSDVM
   121  IVAGTLTNKM APALRKVYDQ MPEPRYVVSM GSCANGGGYY HYSYSVVRGC DRIVPVDIYI
   181  PGCPPTAEAL LYGILQLQRK IKRERRLQIW YRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFS7 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)
0.4
Highest tissue expression
623 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 623 nTPM
  • heart muscle: 420 nTPM
  • spinal cord: 208 nTPM
  • midbrain: 200 nTPM
  • basal ganglia: 176 nTPM
  • kidney: 170 nTPM

Single-cell type

  • parietal cells: 661 nCPM
  • esophageal suprabasal cells: 652 nCPM
  • late spermatids: 591 nCPM
  • late primary spermatocytes: 538 nCPM
  • enterocytes: 528 nCPM
  • esophageal basal cells: 515 nCPM

Immune cell

  • myeloid DC: 347 nTPM
  • intermediate monocyte: 338 nTPM
  • non-classical monocyte: 306 nTPM
  • classical monocyte: 295 nTPM
  • plasmacytoid DC: 271 nTPM
  • memory B-cell: 247 nTPM

Brain region

  • white matter: 193 nTPM
  • cerebellum: 189 nTPM
  • pons: 171 nTPM
  • medulla oblongata: 164 nTPM
  • spinal cord: 147 nTPM
  • basal ganglia: 145 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFS7.

Disease | AllUniProt

Conditions NDUFS7 is implicated in, by any mechanism.

  • Mitochondrial complex I deficiency, nuclear type 3 (MC1DN3) MIM:618224

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 369 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)
0.39
gnomAD pLI
0.91
gnomAD missense Z
0.99
DepMap mean gene effect
-0.26
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-like, 20kDa subunit
  • NADH-ubiquinone oxidoreductase, 20 Kd subunit
  • NADH ubiquinone oxidoreductase, 20 Kd subunit

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NDUFS7 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 NDUFS7 as an antibody target. Whether an autoantibody or antibody against NDUFS7 could matter depends on whether native NDUFS7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NDUFS7 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 NDUFS7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NDUFS7. 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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