NDUFB11

Protein identityUniProt · HPA

UniProt accession

Q9NX14

Gene

NDUFB11

Ensembl

ENSG00000147123

Chromosome

X

Canonical length

153 aa

Protein class

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

Subcellular location

Mitochondria,Acrosome,Equatorial segment,Connecting piece,Mid piece,Principal piece

OverviewNCBI Gene

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]

Canonical amino-acid sequenceUniProt

153 residues, UniProt reviewed canonical sequence.

>Q9NX14|NDUFB11
     1  MAAGLFGLSA RRLLAAAATR GLPAARVRWE SSFSRTVVAP SAVAGKRPPE PTTPWQEDPE
    61  PEDENLYEKN PDSHGYDKDP VLDVWNMRLV FFFGVSIILV LGSTFVAYLP DYRMKEWSRR
   121  EAERLVKYRE ANGLPIMESN CFDPSKIQLP EDE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFB11 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

1

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

661 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFB11.

Disease | AllUniProt

Conditions NDUFB11 is implicated in, by any mechanism.

• Linear skin defects with multiple congenital anomalies 3 (LSDMCA3) MIM:300952
• Mitochondrial complex I deficiency, nuclear type 30 (MC1DN30) MIM:301021

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 99 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Linear skin defects with multiple congenital anomalies 3
• Mitochondrial complex I deficiency, nuclear type 30
• Histiocytoid cardiomyopathy
• Mitochondrial complex I deficiency, nuclear type 1
• Linear skin defects with multiple congenital anomalies 1

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)

0.56

gnomAD pLI

0.8

gnomAD missense Z

0.51

DepMap mean gene effect

-0.36

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
• proton motive force-driven mitochondrial ATP synthesis

Cellular components

• acrosomal vesicle
• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex I
• sperm end piece
• sperm head-tail coupling apparatus
• sperm midpiece
• sperm principal piece

Protein domainsUniProt · Pfam · InterPro

• NADH:ubiquinone oxidoreductase, ESSS subunit
• ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)

KeywordsUniProt

• Cardiomyopathy
• Electron transport
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Respiratory chain
• Transit peptide
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of NDUFB11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BCAP31
• NDUFA2
• TIMMDC1