BLOC1S1

biogenesis of lysosomal organelles complex 1 subunit 1

Ensembl:
ENSG00000135441
UniProt:
P78537
OMIM:
601444
Synonyms:
BLOS1, BORCS1, GCN5L1

Cilia effects upon perturbation of BLOC1S1

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.0) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance
Human ciliopathy phenotype:
Intellectual disability, severe; Severe global developmental delay

Subcellular localization

cilia associated gene, endosome, lysosomes

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation

Function

BLOC1S1 is required for trafficking from endosomes to primary cilia(28576874).