NDUFA6

Protein identityUniProt · HPA

UniProt accession

P56556

Gene

NDUFA6

Ensembl

ENSG00000184983

Chromosome

22

Canonical length

128 aa

Protein class

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

Subcellular location

Nucleoplasm,Vesicles,Mid piece,End piece

OverviewNCBI Gene

This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]

Canonical amino-acid sequenceUniProt

128 residues, UniProt reviewed canonical sequence.

>P56556|NDUFA6
     1  MAGSGVRQAT STASTFVKPI FSRDMNEAKR RVRELYRAWY REVPNTVHQF QLDITVKMGR
    61  DKVREMFMKN AHVTDPRVVD LLVIKGKIEL EETIKVWKQR THVMRFFHET EAPRPKDFLS
   121  KFYVGHDP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFA6 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)

0.43

Highest tissue expression

260 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFA6.

Disease | AllUniProt

Conditions NDUFA6 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 33 (MC1DN33) MIM:618253

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 88 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 33
• Mitochondrial disease
• Inborn genetic diseases
• NDUFA6-related disorder
• Fetal anomalies with a likely genetic cause

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)

1.71

gnomAD pLI

0

gnomAD missense Z

-0.8

DepMap mean gene effect

-0.48

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
• mitochondrial respiratory chain complex I assembly
• proton motive force-driven mitochondrial ATP synthesis

Molecular functions

• NADH dehydrogenase (ubiquinone) activity

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• Complex1_LYR-like
• NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex, subunit 6
• NDUFA6, LYR domain

KeywordsUniProt

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

InteractionsUniProt · HPA

Protein binding partners of NDUFA6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFA13
• NDUFA9
• NDUFB3
• NDUFS7