PRMT7 gene

protein arginine methyltransferase 7

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

From NCBI Gene:

This gene encodes 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. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]

From UniProt:

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.

From NCBI Gene:

  • SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES

From UniProt:

Short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS): An autosomal recessive disease characterized by developmental delay, learning disabilities, mild mental retardation, delayed speech, and skeletal abnormalities. Skeletal features include short stature, brachydactyly, and short metacarpals and metatarsals. [MIM:617157]

Cytogenetic Location: 16q22.1, which is the long (q) arm of chromosome 16 at position 22.1

Molecular Location: base pairs 68,310,974 to 68,358,832 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q22.1, which is the long (q) arm of chromosome 16 at position 22.1
  • SBIDDS