PSD3

pleckstrin and Sec7 domain containing 3

Ensembl:
ENSG00000156011
UniProt:
Q9NYI0
OMIM:
614440
Synonyms:
DKFZP761K1423, EFA6D, EFA6R, HCA67, KIAA0942

Cilia effects upon perturbation of PSD3

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.47) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
decreased locomotor activity, increased bone mineral density, increased cardiac output, increased cardiac stroke volume, increased bone mineral content, decreased circulating total protein level, increased freezing behavior, impaired cued conditioning behavior, tremors
Mouse ciliopathy phenotype:
prolonged qrs complex duration

Subcellular localization

flagella

Functional category

  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

PSD3 has localized in flagella.