Tbio BCS1L Mitochondrial chaperone BCS1

Protein Summary

Description

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. This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]

Uniprot Accession IDs

• Q9Y276
• B3KTW9
• Q7Z2V7
• h-BCS1

Gene Name

• BCS1L

Ensembl ID

• ENST00000359273
• ENSP00000352219
• ENSG00000074582
• ENST00000392109
• ENSP00000375957
• ENST00000392110
• ENSP00000375958
• ENST00000392111
• ENSP00000375959
• ENST00000412366
• ENSP00000406494
• ENST00000431802
• ENSP00000413908
• ENST00000439945
• ENSP00000404999

Symbol

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

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.97
histone modification site profile	0.91
protein domain	0.85
disease perturbation	0.83
transcription factor binding site profile	0.77

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 74.65   (req: < 5)

Gene RIFs: 21   (req: <= 3)

Antibodies: 106   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 74.65   (req: >= 5)

Gene RIFs: 21   (req: > 3)

Antibodies: 106   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0