BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Ensembl:
ENSG00000074582
UniProt:
Q9Y276
OMIM:
603647
Synonyms:
BCS, BJS, H-BCS, HS.6719

Cilia effects upon perturbation of BCS1L

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.32, ciliated=55.4%) PMID:26595381

Phenotypes

Mouse phenotype:
embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage
Human ciliopathy phenotype:
Renal tubulopathy - encephalopathy - liver failure; Joubert syndrome and related disorders

Subcellular localization

flagella, mitochondria

Functional category

  • Metabolism

Function

BCS1L has localized in flagella.