Mitochondrial chaperone BCS1/plant AAA ATPases (IPR027243)

Short name: BCS1/plant_AAA_ATPases

Family relationships



This entry includes a group of mitochondrial outer membrane AAA ATPases from plants and the mitochondrial chaperone BCS1 from animals and fungi. BCS1 contains an N-terminal domain (IPR014851) that is absent in the plant AAA ATPases.

AtOM66 (At3g50930), an AAA ATPase in this entry, is involved in cell death and amplifying SA (salicylic acid) signalling [PMID: 25227923].

BCS1 is a transmembrane chaperone found in the mitochondrial inner membrane. It is required for the mitochondrial Respiratory Chain Complex III assembly [PMID: 18628306]. BCS1 contains a C-terminal AAA ATPase domain in the matrix side that is essential for the chaperone function [PMID: 24361883]. Defects in BCS1L are the cause of GRACILE syndrome (GRACILE), Bjoernstad syndrome (BJS) and mitochondrial complex III deficiency (MT-C3D). GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death' [PMID: 12215968]. BJS is an autosomal recessive condition characterised by sensorineural hearing loss and pili torti [PMID: 17314340]. MT-C3D is a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected [PMID: 11528392].

GO terms

Biological Process

GO:0034551 mitochondrial respiratory chain complex III assembly

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.