TRUB1
Description
The TRUB1 (TruB pseudouridine synthase family member 1) is a protein-coding gene located on chromosome 10.
TRUB1 is a pseudouridine synthase that catalyzes the conversion of uracil to pseudouridine in both mRNAs and tRNAs. It specifically targets mRNAs with the consensus sequence 5'-GUUCNANNC-3' that contain a stem-loop structure. TRUB1 is the primary pseudouridine synthase responsible for modifications in mRNAs and also modifies a subset of tRNAs, including the synthesis of pseudouridine(55) from uracil-55 within the psi GC loop. Interestingly, TRUB1 promotes the processing of pri-let-7 microRNAs (pri-miRNAs) independent of its pseudouridylation activity. It binds to the stem-loop structure of pri-let-7, preventing LIN28 binding and enhancing the interaction between pri-let-7 and the microprocessor DGCR8, which facilitates miRNA maturation.
TRUB1 is also known as PUS4.
Associated Diseases
- dehydrated hereditary stomatocytosis
- hemoglobin E-beta-thalassemia syndrome
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- gluthathione peroxidase deficiency
- IRIDA syndrome
- hemochromatosis type 5
- microcytic anemia with liver iron overload
- Rh deficiency syndrome
- isolated asymptomatic elevation of creatine phosphokinase
- pentosuria
- elliptocytosis 2
- cryohydrocytosis
- familial pseudohyperkalemia
- hereditary spherocytosis type 4
- immunodeficiency 69
- familial isolated congenital asplenia
- non-spherocytic hemolytic anemia due to hexokinase deficiency
