Mitochondrial chaperone BCS1 (IPR027243)

Short name: BCS1

Overlapping homologous superfamilies

Family relationships



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

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].

This entry also includes some uncharacterised AAA family members from virus.

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.