PRMT7

PRMT7 is a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway.

Full Name

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.

Biological Process

Cell differentiationIEA:UniProtKB-KW
DNA methylation involved in gamete generationISS:UniProtKB
Histone arginine methylationISS:UniProtKB
Histone methylationManual Assertion Based On ExperimentIDA:HGNC-UCL
Peptidyl-arginine methylationManual Assertion Based On ExperimentIDA:HGNC-UCL
Regulation of gene expression by genomic imprintingISS:UniProtKB
Regulation of protein binding1 PublicationIC:HGNC-UCL
Spliceosomal snRNP assemblyManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cytoplasm, cytosol
Nucleus

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.