PXD023136

PXD023136 is an original dataset announced via ProteomeXchange.

Title	Optic Atrophy-associated TMEM126A is an assembly factor for the ND4-module of Mitochondrial Complex I
Description	Mitochondrial disease is a debilitating condition with a diverse genetic aetiology. Here, we report that TMEM126A, a protein that is mutated in patients with autosomal recessive optic atrophy, participates directly in the assembly of mitochondrial complex I. Using a combination of genome editing, interaction studies and quantitative proteomics, we find that loss of TMEM126A results in an isolated complex I deficiency and that TMEM126A interacts with a number of complex I subunits and assembly factors. Pulse-labelling interaction studies reveal that TMEM126A associates with the newly synthesised mtDNA-encoded ND4 subunit of complex I. Our findings indicate that TMEM126A is involved in the assembly of the ND4 distal membrane module of complex I. Importantly, we clarify that the function of TMEM126A is distinct from its paralogue TMEM126B, which acts in assembly of the ND2-module of complex I, helping to explain the differences in disease aetiology observed between these two genes.
HostingRepository	PRIDE
AnnounceDate	2021-04-21
AnnouncementXML	Submission_2021-04-20_23:03:28.059.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	David Stroud
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	6x(13)C labeled residue; monohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Eclipse; Q Exactive; LTQ Orbitrap Elite

Revision	Datetime	Status	ChangeLog Entry
0	2020-12-15 01:41:38	ID requested
⏵ 1	2021-04-20 23:03:28	announced

Dataset with its publication pending

submitter keyword: TMEM126A, mitochondria, complex I, assembly factor

David Stroud
contact affiliation	Department of Biochemistry and Molecular Biology, The Bio21 Institute, The University of Melbourne, 3000, Melbourne, Australia
contact email	david.stroud@unimelb.edu.au
lab head
David Stroud
contact affiliation	The University of Melbourne
contact email	david.stroud@unimelb.edu.au
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD023136
     1. Label: PRIDE project
     2. Name: Optic Atrophy-associated TMEM126A is an assembly factor for the ND4-module of Mitochondrial Complex I