Seroatlas · Human Serome Atlas

NDUFA9

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial

Also known as: CI-39k, COQ11, NDUA9_HUMAN, NDUFS2L, SDR22E1

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

Protein identityUniProt · HPA

UniProt accession: Q16795
Gene: NDUFA9
Ensembl: ENSG00000139180
Chromosome: 12
Canonical length: 377 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Mitochondria

OverviewNCBI Gene

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

377 residues, UniProt reviewed canonical sequence.

>Q16795|NDUFA9
     1  MAAAAQSRVV RVLSMSRSAI TAIATSVCHG PPCRQLHHAL MPHGKGGRSS VSGIVATVFG
    61  ATGFLGRYVV NHLGRMGSQV IIPYRCDKYD IMHLRPMGDL GQLLFLEWDA RDKDSIRRVV
   121  QHSNVVINLI GRDWETKNFD FEDVFVKIPQ AIAQLSKEAG VEKFIHVSHL NANIKSSSRY
   181  LRNKAVGEKV VRDAFPEAII VKPSDIFGRE DRFLNSFASM HRFGPIPLGS LGWKTVKQPV
   241  YVVDVSKGIV NAVKDPDANG KSFAFVGPSR YLLFHLVKYI FAVAHRLFLP FPLPLFAYRW
   301  VARVFEISPF EPWITRDKVE RMHITDMKLP HLPGLEDLGI QATPLELKAI EVLRRHRTYR
   361  WLSAEIEDVK PAKTVNI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFA9 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): 0.29
Highest tissue expression: 109 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 109 nTPM
skeletal muscle: 103 nTPM
tongue: 103 nTPM
choroid plexus: 67 nTPM
liver: 47 nTPM
kidney: 40 nTPM

Single-cell type

late spermatids: 787 nCPM
parietal cells: 180 nCPM
early spermatids: 88 nCPM
enteric transient amplifying cells: 65 nCPM
enteric stem cells: 59 nCPM
extravillous trophoblasts: 58 nCPM

Immune cell

total PBMC: 265 nTPM
plasmacytoid DC: 169 nTPM
intermediate monocyte: 166 nTPM
myeloid DC: 162 nTPM
memory B-cell: 149 nTPM
T-reg: 144 nTPM

Brain region

choroid plexus: 35 nTPM
cerebellum: 33 nTPM
cerebral cortex: 32 nTPM
white matter: 29 nTPM
thalamus: 29 nTPM
pons: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFA9.

Disease | AllUniProt

Conditions NDUFA9 is implicated in, by any mechanism.

Mitochondrial complex I deficiency, nuclear type 26 (MC1DN26) MIM:618247

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 286 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mitochondrial complex I deficiency, nuclear type 26
Inborn genetic diseases

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): 0.64
gnomAD pLI: 0
gnomAD missense Z: 0.09
DepMap mean gene effect: -0.35
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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

NAD-dependent epimerase/dehydratase
NAD(P)-binding domain superfamily
NAD dependent epimerase/dehydratase family
Mitochondrial Complex I NDUFA9 Subunit

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NDUFA9 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 NDUFA9 as an antibody target. Whether an autoantibody or antibody against NDUFA9 could matter depends on whether native NDUFA9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NDUFA9 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 NDUFA9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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