DISEASES

Disease-gene associations mined from literature

Literature on TGS1

TGS1 [ENSP00000260129]

Trimethylguanosine synthase; Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation. ECO:0000269|PubMed:11912212, ECO:0000269|PubMed:16687569,; Belongs to the methyltransferase superfamily. Trimethylguanosine synthase family.

Synonyms:  TGS1,  TGS1p,  hTGS1,  E5RJW7,  Q96RS0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM