PSEN1

presenilin 1

Ensembl:
ENSG00000080815
UniProt:
P49768
Synonyms:
AD3, FAD, PS-1, PS1, PSNL1

Cilia effects upon perturbation of PSEN1

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • 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]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=537, lfc=-1.95) PMID:30270045

Phenotypes

Mouse phenotype:
hemorrhage, preweaning lethality, complete penetrance, abnormal limb morphology, unresponsive to tactile stimuli, abnormal tail morphology, cyanosis, edema

Subcellular localization

centrosome, cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • T cell biology
  • Neurogenesis & migration
  • Protein processing & maturation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Notch-sig ling defects in embryos and cultured keratinocytes depleted of Presenilin-1 and Presenilin-2(27354375).