Seroatlas · Human Serome Atlas

NDUFAF6

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

Also known as: C8orf38, MGC40214, NDUF6_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q330K2
Gene: NDUFAF6
Ensembl: ENSG00000156170
Chromosome: 8
Canonical length: 333 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

Canonical amino-acid sequenceUniProt

333 residues, UniProt reviewed canonical sequence.

>Q330K2|NDUFAF6
     1  MAASAHGSVW GPLRLGIPGL CCRRPPLGLY ARMRRLPGPE VSGRSVAAAS GPGAWGTDHY
    61  CLELLRKRDY EGYLCSLLLP AESRSSVFAL RAFNVELAQV KDSVSEKTIG LMRMQFWKKT
   121  VEDIYCDNPP HQPVAIELWK AVKRHNLTKR WLMKIVDERE KNLDDKAYRN IKELENYAEN
   181  TQSSLLYLTL EILGIKDLHA DHAASHIGKA QGIVTCLRAT PYHGSRRKVF LPMDICMLHG
   241  VSQEDFLRRN QDKNVRDVIY DIASQAHLHL KHARSFHKTV PVKAFPAFLQ TVSLEDFLKK
   301  IQRVDFDIFH PSLQQKNTLL PLYLYIQSWR KTY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFAF6 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): 0.32
Highest tissue expression: 12 nTPM

Expression across tissuesHPA

Tissue

tongue: 12 nTPM
skeletal muscle: 11 nTPM
heart muscle: 8.3 nTPM
cerebral cortex: 7.3 nTPM
basal ganglia: 7.2 nTPM
amygdala: 6.7 nTPM

Single-cell type

plasma cells: 526 nCPM
thymocytes: 339 nCPM
b-cells: 301 nCPM
hematopoietic stem cells: 232 nCPM
respiratory ciliated cells: 221 nCPM
cardiomyocytes: 216 nCPM

Immune cell

naive B-cell: 3.1 nTPM
memory B-cell: 2.5 nTPM
eosinophil: 1.9 nTPM
MAIT T-cell: 1.9 nTPM
naive CD4 T-cell: 1.9 nTPM
NK-cell: 1.9 nTPM

Brain region

midbrain: 5.9 nTPM
white matter: 5.7 nTPM
hypothalamus: 5.5 nTPM
basal ganglia: 5.4 nTPM
cerebral cortex: 5.3 nTPM
pons: 5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFAF6.

Disease | AllUniProt

Conditions NDUFAF6 is implicated in, by any mechanism.

Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) MIM:618239
Fanconi renotubular syndrome 5 (FRTS5) MIM:618913

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 304 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mitochondrial complex I deficiency, nuclear type 17
Inborn genetic diseases
Fanconi renotubular syndrome 5
Leigh syndrome
Developmental regression

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): 1.2
gnomAD pLI: 0
gnomAD missense Z: 0.57
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

mitochondrial respiratory chain complex I assembly

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NDUFAF6 as an antibody target. Whether an autoantibody or antibody against NDUFAF6 could matter depends on whether native NDUFAF6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NDUFAF6 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 NDUFAF6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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