NDUFA1 Back

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa

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NCBI Description of NDUFA1

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.

Community Annotation of NDUFA1 Add / Edit NDUFA1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

NDUFA1 is highly significantly mutated in
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NDUFA1 is significantly mutated in
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NDUFA1 is near significance in
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Data details


Mutation list for NDUFA1