BLOC1S6

biogenesis of lysosomal organelles complex 1 subunit 6

Ensembl:
ENSG00000104164
UniProt:
Q9UL45
OMIM:
604310
Synonyms:
HPS9, PA, PLDN

Cilia effects upon perturbation of BLOC1S6

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Mouse phenotype:
abnormal eye morphology, abnormal skin morphology, abnormal coat/hair pigmentation, abnormal lymph node morphology, increased circulating serum albumin level, hyperactivity

Subcellular localization

basal body, cytosol

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Metabolism
  • T cell biology
  • Protein processing & maturation

Function

Required for polycystin-2 trafficking to cilium, partially dependent on IFT20(28576874).