BCS1L

Protein identityUniProt · HPA

UniProt accession

Q9Y276

Gene

BCS1L

Ensembl

ENSG00000074582

Chromosome

2

Canonical length

419 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Vesicles,Mid piece

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

419 residues, UniProt reviewed canonical sequence.

>Q9Y276|BCS1L
     1  MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY
    61  AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS PGNHFIWYRG KWIRVERSRE
   121  MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG
   181  YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI
   241  TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK
   301  YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYVGYCSHWQ
   361  LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BCS1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

40 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BCS1L.

Disease | AllUniProt

Conditions BCS1L is implicated in, by any mechanism.

• GRACILE syndrome (GRACILE) MIM:603358
• Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) MIM:124000
• Bjoernstad syndrome (BJS) MIM:262000

Disease | GeneticClinVar

140 pathogenic / likely-pathogenic of 603 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• GRACILE syndrome
• Pili torti-deafness syndrome
• Mitochondrial complex III deficiency nuclear type 1
• BCS1L-related disorder
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.24

gnomAD pLI

0

gnomAD missense Z

1.62

DepMap mean gene effect

-0.38

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial respiratory chain complex I assembly
• mitochondrial respiratory chain complex III assembly
• mitochondrial respiratory chain complex IV assembly
• mitochondrion organization
• protein insertion into mitochondrial inner membrane from matrix

Molecular functions

• ATP binding
• ATP hydrolysis activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex III

Protein domainsUniProt · Pfam · InterPro

• AAA+ ATPase domain
• ATPase, AAA-type, core
• ATPase, AAA-type, conserved site
• P-loop containing nucleoside triphosphate hydrolase
• ATPase family associated with various cellular activities (AAA)
• BCS1, N-terminal
• Mitochondrial chaperone BCS1 subfamily
• Mitochondrial chaperone BCS1-like, ATPase lid domain
• BCS1 N terminal
• Mitochondrial chaperone BCS1-like, ATPase lid domain

KeywordsUniProt

• ATP-binding
• Chaperone
• Deafness
• Hydrolase
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Nucleotide-binding
• Phosphoprotein
• Primary mitochondrial disease
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of BCS1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LETM1