PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000007168
UniProt:
P43034
OMIM:
601545
Synonyms:
LIS1, MDCR, MDS, NUDF, PAFAH

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.33) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Subcellular localization

centrosome, cilia, cytosol, microtubules, nucleus

References: PMID:17314247, PMID:22855525

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Neurogenesis & migration
  • Protein processing & maturation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Also known as LIS1. It may regulate outer dynein arm activity and ciliary beating in the trachea. Essential role in cytoplasmic dynein regulation, mitosis and neuronal migration. Interacts with NudC(17314247). Regulator of cytoplasmic dynein and alters its microtubule-binding affinity (22855525).