NDUFB9

Protein identityUniProt · HPA

UniProt accession

Q9Y6M9

Gene

NDUFB9

Ensembl

ENSG00000147684

Chromosome

8

Canonical length

179 aa

Protein class

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

Subcellular location

Mitochondria

OverviewNCBI Gene

The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

Canonical amino-acid sequenceUniProt

179 residues, UniProt reviewed canonical sequence.

>Q9Y6M9|NDUFB9
     1  MAFLASGPYL THQQKVLRLY KRALRHLESW CVQRDKYRYF ACLMRARFEE HKNEKDMAKA
    61  TQLLKEAEEE FWYRQHPQPY IFPDSPGGTS YERYDCYKVP EWCLDDWHPS EKAMYPDYFA
   121  KREQWKKLRR ESWEREVKQL QEETPPGGPL TEALPPARKE GDLPPLWWYI VTRPRERPM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFB9 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)

0.4

Highest tissue expression

1,386 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFB9.

Disease | AllUniProt

Conditions NDUFB9 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 24 (MC1DN24) MIM:618245

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 128 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 24

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)

1.04

gnomAD pLI

0

gnomAD missense Z

0

DepMap mean gene effect

-0.57

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% 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
• sensory perception of sound

Molecular functions

• NADH dehydrogenase (ubiquinone) activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex I

Protein domainsUniProt · Pfam · InterPro

• Complex 1 LYR protein domain
• Complex 1 protein (LYR family)
• NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9
• NDUFB9, LYR domain

KeywordsUniProt

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

InteractionsUniProt · HPA

Protein binding partners of NDUFB9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFA13
• NDUFA7
• NDUFA9
• NDUFB3
• NDUFB5
• NDUFS5
• NDUFS6