NDUFA11

Protein identityUniProt · HPA

UniProt accession

Q86Y39

Gene

NDUFA11

Ensembl

ENSG00000174886

Chromosome

19

Canonical length

141 aa

Protein class

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

Subcellular location

Mitochondria,Perinuclear theca,Principal piece,End piece

OverviewNCBI Gene

This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

Canonical amino-acid sequenceUniProt

141 residues, UniProt reviewed canonical sequence.

>Q86Y39|NDUFA11
     1  MAPKVFRQYW DIPDGTDCHR KAYSTTSIAS VAGLTAAAYR VTLNPPGTFL EGVAKVGQYT
    61  FTAAAVGAVF GLTTCISAHV REKPDDPLNY FLGGCAGGLT LGARTHNYGI GAAACVYFGI
   121  AASLVKMGRL EGWEVFAKPK V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFA11 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

2

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

632 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFA11.

Disease | AllUniProt

Conditions NDUFA11 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 14 (MC1DN14) MIM:618236

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 143 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 14

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)

1.54

gnomAD pLI

0.02

gnomAD missense Z

0.54

DepMap mean gene effect

-0.51

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

Cellular components

• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex I

Protein domainsUniProt · Pfam · InterPro

• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11

KeywordsUniProt

• Acetylation
• Electron transport
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Respiratory chain
• Transmembrane
• Transmembrane helix
• Transport