SMG1

SMG1 nonsense mediated mRNA decay associated PI3K related kinase

Ensembl:
ENSG00000157106
UniProt:
Q96Q15
OMIM:
607032
Synonyms:
ATX, KIAA0421, LIP

Cilia effects upon perturbation of SMG1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.15) 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:
preweaning lethality, complete penetrance
Mouse ciliopathy phenotype:
increased circulating bilirubin level

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly

Function

Nonsense mutations in the SMG1 gene stabilize the misspliced transcripts in the ift mutants ( 29514868).