NDUFB7

Protein identityUniProt · HPA

UniProt accession

P17568

Gene

NDUFB7

Ensembl

ENSG00000099795

Chromosome

19

Canonical length

137 aa

Protein class

Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

137 residues, UniProt reviewed canonical sequence.

>P17568|NDUFB7
     1  MGAHLVRRYL GDASVEPDPL QMPTFPPDYG FPERKEREMV ATQQEMMDAQ LRLQLRDYCA
    61  HHLIRLLKCK RDSFPNFLAC KQERHDWDYC EHRDYVMRMK EFERERRLLQ RKKRREKKAA
   121  ELAKGQGPGE VDPKVAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFB7 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)

0.44

Highest tissue expression

665 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFB7.

Disease | AllUniProt

Conditions NDUFB7 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 39 (MC1DN39) MIM:620135

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 31 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
• Mitochondrial complex I deficiency, nuclear type 39

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)

1.67

gnomAD pLI

0

gnomAD missense Z

0.27

DepMap mean gene effect

-0.5

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

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7, NDUB7
• NADH-ubiquinone oxidoreductase B18 subunit (NDUFB7)

KeywordsUniProt

• Disulfide bond
• Electron transport
• Lipoprotein
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Myristate
• Phosphoprotein
• Primary mitochondrial disease
• Respiratory chain
• Transport

InteractionsUniProt · HPA

Protein binding partners of NDUFB7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFA9
• NDUFB3
• NDUFB5