NDUFA1

Protein identityUniProt · HPA

UniProt accession

O15239

Gene

NDUFA1

Ensembl

ENSG00000125356

Chromosome

X

Canonical length

70 aa

Protein class

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

Subcellular location

Mitochondria,Cytosol

OverviewNCBI Gene

The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the """"""""""""""""""""""""""""""""hydrophobic protein"""""""""""""""""""""""""""""""" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

70 residues, UniProt reviewed canonical sequence.

>O15239|NDUFA1
     1  MWFEILPGLS VMGVCLLIPG LATAYIHRFT NGGKEKRVAH FGYHWSLMER DRRISGVDRY
    61  YVSKGLENID

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFA1 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)

0.46

Highest tissue expression

1,658 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFA1.

Disease | AllUniProt

Conditions NDUFA1 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) MIM:301020

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 80 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 12

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)

1.18

gnomAD pLI

0.55

gnomAD missense Z

0.96

DepMap mean gene effect

-0.22

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 membrane
• mitochondrion
• respiratory chain complex I

Protein domainsUniProt · Pfam · InterPro

• NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex subunit 1
• NADH-ubiquinone oxidoreductase MWFE subunit

KeywordsUniProt

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