PRMT7
Function
Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Specifically mediates the symmetric dimethylation of histone H4 'Arg-3' to form H4R3me2s. Plays a role in gene imprinting by being recruited by CTCFL at the H19 imprinted control region (ICR) and methylating histone H4 to form H4R3me2s, possibly leading to recruit DNA methyltransferases at these sites. May also play a role in embryonic stem cell (ESC) pluripotency. Also able to mediate the arginine methylation of histone H2A and myelin basic protein (MBP) in vitro; the relevance of such results is however unclear in vivo.
Involvement in disease
Short stature, brachydactyly, impaired intellectual developmental, and seizures
SBIDDS
An autosomal recessive disease characterized by developmental delay, learning disabilities, mild intellectual disability, delayed speech, and skeletal abnormalities. Skeletal features include short stature, brachydactyly, and short metacarpals and metatarsals.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. PRMT7 subfamily.
Cellular localization
- Cytoplasm
- Cytosol
- Nucleus
Alternative names
KIAA1933, PRMT7, Protein arginine N-methyltransferase 7, Histone-arginine N-methyltransferase PRMT7, [Myelin basic protein]-arginine N-methyltransferase PRMT7