PUM1

pumilio RNA binding family member 1

Ensembl:
ENSG00000134644
UniProt:
Q14671
OMIM:
607204
Synonyms:
KIAA0099, PUMH1

Cilia effects upon perturbation of PUM1

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-0.69) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=139, lfc=-3.45) PMID:30270045

Phenotypes

Mouse phenotype:
decreased prepulse inhibition, abnormal skin morphology
Human ciliopathy phenotype:
spinocerebellar ataxia 47; neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

Subcellular localization

cilia associated gene, cytosol, p-body

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the PUM1 gene cause Spinocerebellar Ataxia (PMID: 29474920).