DISEASES

Disease-gene associations mined from literature

Literature on RPUSD3

RPUSD3 [ENSP00000373331]

Mitochondrial mRNA pseudouridine synthase RPUSD3; Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs), a post- transcriptional modification necessary for their translation. Acts at position 390 in COXI mt-mRNA and at position 697-699 in mitochondrial COXIII mt-mRNA . As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and may play a role in mitochondrial ribosome biogenesis ; Belongs to the pseudouridine synthase RluA family.

Synonyms:  RPUSD3,  RPUSD3p,  hRPUSD3,  C9JM75,  H7C0K7 ...

Linkouts:  STRING  Pharos  UniProt