NDUFA8

Protein identityUniProt · HPA

UniProt accession

P51970

Gene

NDUFA8

Ensembl

ENSG00000119421

Chromosome

9

Canonical length

172 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Mitochondria,Mid piece,Principal piece,End piece

OverviewNCBI Gene

The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

172 residues, UniProt reviewed canonical sequence.

>P51970|NDUFA8
     1  MPGIVELPTL EELKVDEVKI SSAVLKAAAH HYGAQCDKPN KEFMLCRWEE KDPRRCLEEG
    61  KLVNKCALDF FRQIKRHCAE PFTEYWTCID YTGQQLFRHC RKQQAKFDEC VLDKLGWVRP
   121  DLGELSKVTK VKTDRPLPEN PYHSRPRPDP SPEIEGDLQP ATHGSRFYFW TK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFA8 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)

0.42

Highest tissue expression

356 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFA8.

Disease | AllUniProt

Conditions NDUFA8 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 37 (MC1DN37) MIM:619272

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 42 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 37

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)

0.72

gnomAD pLI

0.34

gnomAD missense Z

0.48

DepMap mean gene effect

-0.44

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

• aerobic respiration
• mitochondrial electron transport, NADH to ubiquinone
• proton motive force-driven mitochondrial ATP synthesis

Molecular functions

• NADH dehydrogenase (ubiquinone) activity
• protein-containing complex binding

Cellular components

• mitochondrial inner membrane
• mitochondrial intermembrane space
• mitochondrion
• respiratory chain complex I

Protein domainsUniProt · Pfam · InterPro

• CHCH
• CHCH domain
• NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex, subunit 8

KeywordsUniProt

• Disulfide bond
• Electron transport
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Repeat
• Respiratory chain
• Transport

InteractionsUniProt · HPA

Protein binding partners of NDUFA8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFA13
• NDUFS3
• NDUFS6