Target intelligence / Profile preview

Pseudouridine synthase 7 (PUS7)

Target
PUS7
Molecular classification
Enzyme, RNA modification enzyme, Pseudouridine synthase (TruD family)
01

Overview

Pseudouridine synthase 7 (PUS7) is an opportunistic and highly versatile RNA modification enzyme belonging to the pseudouridine synthase (TruD) family[3][1]. It catalyzes the conversion of uridine to pseudouridine (Ψ) in a broad range of RNA substrates, including messenger RNA (mRNA), transfer RNA (tRNA), and noncoding RNAs[1][2][3]. Unlike other family members, PUS7 recognizes many substrates with variable sequences and structures, but is especially active on less-structured RNAs containing the UGUAR consensus motif[1][2]. PUS7's enzymatic activity plays a critical role in regulating RNA stability and protein synthesis, allowing rapid cellular adaptation to stress or developmental cues[2][3]. Mutations in human PUS7 disrupt its function and cause developmental and intellectual disability syndromes, highlighting its biomedical importance[3]. The broad substrate specificity derives from structural features, including unique insertion domains that create an extended RNA-binding surface[3]. While PUS7 is not currently a direct drug target and no interacting drugs are known, its function is crucial for normal cellular physiology and holds relevance for disease biology.

Other names
Pseudouridylate synthase 7 homologPUS7KIAA1897FLJ20485IDDABSpseudouridylate synthase 7 homologpseudouridylate synthase 7 (putative)TruD family pseudouridine synthase
02

Mechanism of action

Drugs would act by inhibiting enzymatic pseudouridylation of uridine to pseudouridine in target RNAs

03

Biological functions

RNA modification (specifically catalyzes pseudouridylation)Regulation of protein synthesisModulation of RNA structure and stabilityInfluences cellular responses (e.g., stress, development, brain function)
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Disease associations

Developmental disorders (mutations in PUS7 cause neurodevelopmental and intellectual disability syndromes)Potential relevance to cancer and brain disease (aberrant RNA modification patterns)
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Safety considerations

Disruption of normal pseudouridylation affects RNA stability, translation, and cellular differentiationMutations can lead to detrimental developmental defectsPotential for widespread cellular impact due to promiscuous substrate recognition
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Biomarkers

Pseudouridylation of specific RNAs can serve as a biomarker for PUS7 activity or mutation status

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