NDUFA12

Protein identityUniProt · HPA

UniProt accession

Q9UI09

Gene

NDUFA12

Ensembl

ENSG00000184752

Chromosome

12

Canonical length

145 aa

Protein class

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

Subcellular location

Mitochondria,Cytosol

OverviewNCBI Gene

This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

Canonical amino-acid sequenceUniProt

145 residues, UniProt reviewed canonical sequence.

>Q9UI09|NDUFA12
     1  MELVQVLKRG LQQITGHGGL RGYLRVFFRT NDAKVGTLVG EDKYGNKYYE DNKQFFGRHR
    61  WVVYTTEMNG KNTFWDVDGS MVPPEWHRWL HSMTDDPPTT KPLTARKFIW TNHKFNVTGT
   121  PEQYVPYSTT RKKIQEWIPP STPYK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFA12 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)

0.41

Highest tissue expression

528 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFA12.

Disease | AllUniProt

Conditions NDUFA12 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 23 (MC1DN23) MIM:618244

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 110 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 23
• SLC35A2-congenital disorder of glycosylation

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)

1.49

gnomAD pLI

0

gnomAD missense Z

0

DepMap mean gene effect

-0.13

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 ATP synthesis coupled electron transport
• proton motive force-driven mitochondrial ATP synthesis

Molecular functions

• NADH dehydrogenase (ubiquinone) activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex I

Protein domainsUniProt · Pfam · InterPro

• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
• NADH ubiquinone oxidoreductase subunit NDUFA12

KeywordsUniProt

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

InteractionsUniProt · HPA

Protein binding partners of NDUFA12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFA13
• NDUFA2
• NDUFA7
• NDUFA9
• NDUFB3
• NDUFS6
• NDUFS7