Target intelligence / Profile preview

BUD13 spliceosome-associated protein (BUD13)

Target
BUD13
Molecular classification
Other (spliceosome-associated protein), RNA-binding protein
01

Overview

BUD13 spliceosome-associated protein is an RNA-binding protein that is a component of the RES (Retention and Splicing) complex, which includes Snu17 and Pml1, and participates in the regulation of pre-mRNA splicing within the spliceosome[1][2][4][5]. It is essential for the efficient assembly and activation of spliceosome complexes, particularly during the splicing of U12-type introns in pre-mRNAs[1][5]. BUD13 localizes to the nucleoplasm and is most notably involved in ensuring the proper nuclear retention of unspliced pre-mRNA, impacting mRNA maturation[1][2][4]. Loss of BUD13 or its complex partners leads to defects in intron retention and pre-mRNA processing efficiency, with downstream effects on gene expression[1][3]. No established therapeutic drugs are known to directly target BUD13, nor is it regarded as an established therapeutic target, but genetic variation in BUD13 has been linked to rare genetic diseases[2].

Other names
BUD13 homologMGC13125fSAP71Cwc26functional spliceosome-associated protein 71ACHPS
02

Biological functions

mRNA splicing via spliceosomeRNA bindingComponent of the U2-type precatalytic spliceosomeRegulation of pre-mRNA splicing, specifically in intron retention and spliceosome activationNuclear retention of unspliced pre-mRNA
03

Disease associations

Possible involvement in thrombophiliaAssociation with hypogonadotropic hypogonadism 14 with or without anosmia (based on genetic disease annotation)No direct evidence for a major role in cancer, inflammatory, neurodegenerative, cardiovascular, or infectious diseases

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