DISEASES

Disease-gene associations mined from literature

Literature associating BCDIN3D and EEC syndrome

BCDIN3D [ENSP00000335201]

RNA 5'-monophosphate methyltransferase; O-methyltransferase that specifically monomethylates 5'- monophosphate of cytoplasmic histidyl tRNA, acting as a capping enzyme . Less efficiently, also methylates the 5' monophosphate of pre-miRNAs, acting as a negative regulator of miRNA processing . The 5' monophosphate of pre-miRNAs is recognized by DICER1 and is required for pre-miRNAs processing: methylation at this position reduces the processing of pre- miRNAs by DICER1. Able to mediate methylation of pre-miR-145, as well as other pre-miRNAs . There is some controversy about the methylation of pre-miR-145, since the dimethylation first described as the specific enzymatic activity cannot be reproduced by a more recent work which observes a monomehtylation of pre-miR-145 but two orders weaker than the methylation of cytosolic histidyl tRNA .

Synonyms:  BCDIN3D,  BCDIN3Dp,  hBCDIN3D,  Q7Z5W3,  Q7Z5W3p ...

Linkouts:  STRING  Pharos  UniProt