SMG9 gene

SMG9, nonsense mediated mRNA decay factor

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]

From UniProt:

Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8.

Cytogenetic Location: 19q13.31, which is the long (q) arm of chromosome 19 at position 13.31

Molecular Location: base pairs 43,727,992 to 43,754,990 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.31, which is the long (q) arm of chromosome 19 at position 13.31
  • C19orf61
  • F17127_1
  • HBMS