InterPro domain: IPR033570

General Information

  • Identifier IPR033570
  • Description Sodium channel modifier 1
  • Number of genes 61
  • Gene duplication stats Loading...
  • Associated GO terms GO:0008380  

Abstract

SCNM1 (sodium channel modifier 1) is an accessory component of the U1 splicesome protein complex. It interacts with the spliceosomal Sm and U1-70K proteins and has a direct role in splicing [ 1 ]. It was originally identified as a disease modifier gene required for efficient splicing of a mutant splice donor site in the sodium channel Scn8a [ 2 ].


1. Evidence for a direct role of the disease modifier SCNM1 in splicing. Hum. Mol. Genet. 16, 2506-16
2. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science 301, 967-9

Species distribution

Gene table

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