Mouse anti-Human sapiens (Human) PUS7 Monoclonal Antibody

Function

Pseudouridylate synthase that catalyzes pseudouridylation of RNAs (PubMed:28073919, PubMed:29628141, PubMed:30778726, PubMed:31477916, PubMed:34718722, PubMed:35051350). Acts as a regulator of protein synthesis in embryonic stem cells by mediating pseudouridylation of RNA fragments derived from tRNAs (tRFs): pseudouridylated tRFs inhibit translation by targeting the translation initiation complex (PubMed:29628141). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:28073919, PubMed:31477916, PubMed:35051350). Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350). Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350). In addition to mRNAs and tRNAs, binds other types of RNAs, such as snRNAs, Y RNAs and vault RNAs, suggesting that it can catalyze pseudouridylation of many RNA types (PubMed:29628141)

Subcellular Location

Nucleus

Disease Association

Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (IDDABS) : An autosomal recessive disorder characterized by intellectual disability, developmental delay with poor or absent speech, short stature, progressive microcephaly, hyperactivity and aggressive behavior. Some patients manifest sensorineural hearing loss. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Interacts with SIRT1

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• Gauci S. et al. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. — Anal. Chem. (2009)
• Mayya V. et al. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. — Sci. Signal. (2009)
• Burkard T.R. et al. Initial characterization of the human central proteome. — BMC Syst. Biol. (2011)
• Van Damme P. et al. N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. — Proc. Natl. Acad. Sci. U.S.A. (2012)