PACRG

parkin coregulated

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000112530
UniProt:
Q96M98
OMIM:
608427
Synonyms:
BUG21, FLJ32724, GLUP, HAK005771, PARK2CRG, PF12

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.81) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal locomotor behavior, abnormal coat/hair pigmentation, increased circulating hdl cholesterol level

Subcellular localization

cilia, nucleus

References: PMID:42010243, PMID:31116684

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Protein processing & maturation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Interacts with Rib72, FAP252, and FAP20 to regulate ciliary motility (27770595). Required for proper activation of dynein-driven microtubule sliding and for the assembly of regulatory components. Mutations lead to reduced assembly of inner-arm dynein IDA b, the beak-MIP structures and cause severe motility defects (31116684).