InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BCS1L

Summary

InnateDB Protein

IDBP-246327.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BCS1L

Protein Name

BCS1-like (S. cerevisiae)

Synonyms

BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS; Hs.6719; MC3DN1; PTD;

Species

Homo sapiens

Ensembl Protein

ENSP00000375959

InnateDB Gene

IDBG-81091 (BCS1L)

Protein Structure

UniProt Annotation

Function

Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex. {ECO:0000269PubMed:18628306}.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000269PubMed:18628306, ECO:0000269PubMed:9878253}; Single- pass membrane protein {ECO:0000269PubMed:18628306, ECO:0000269PubMed:9878253}.

Disease Associations

GRACILE syndrome (GRACILE) [MIM:603358]: GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. {ECO:0000269PubMed:12215968, ECO:0000269PubMed:17314340}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269PubMed:11528392, ECO:0000269PubMed:12910490, ECO:0000269PubMed:17314340, ECO:0000269PubMed:17403714, ECO:0000269PubMed:19162478}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bjoernstad syndrome (BJS) [MIM:262000]: An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. {ECO:0000269PubMed:17314340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:9878253}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0017111	nucleoside-triphosphatase activity

Biological Process

GO:0007005	mitochondrion organization
GO:0008152	metabolic process
GO:0032981	mitochondrial respiratory chain complex I assembly
GO:0033617	mitochondrial respiratory chain complex IV assembly
GO:0034551	mitochondrial respiratory chain complex III assembly

Cellular Component

GO:0005739	mitochondrion
GO:0005750	mitochondrial respiratory chain complex III

Protein Structure and Domains

PDB ID

InterPro

IPR003593 AAA+ ATPase domain
IPR003959 ATPase, AAA-type, core
IPR014851 BCS1, N-terminal
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00004
PF07724
PF13304
PF08740

PRINTS

PIRSF

SMART

SM00382
SM01024

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y276