SMG1

Chr 16

SMG1 nonsense mediated mRNA decay associated PI3K related kinase

Also known as: 61E3.4, ATX, LIP

NCBI Gene: 23049 ENSG00000157106 UniProt: Q96Q15

This gene encodes a serine/threonine protein kinase that phosphorylates UPF1 to regulate nonsense-mediated mRNA decay and also functions in DNA damage response by phosphorylating p53. Mutations cause primary microcephaly with intellectual disability and developmental delay, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, indicating that complete loss of SMG1 function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.05

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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