SMG1

SMG1 nonsense mediated mRNA decay associated PI3K related kinase

Tier: Gold Standard Ciliary Genes

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

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

Subcellular localization

cytosol, nucleus, ciliary tip

References: PMID:41005307, PMID:29514868

Functional category

Ciliary assembly/disassembly

Function

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

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