U2AF1

Description

The U2AF1 (U2 small nuclear RNA auxiliary factor 1) is a protein-coding gene located on chromosome 21.

U2AF1 is a protein encoded by the U2AF1 gene. It belongs to the splicing factor SR family and is a subunit of the U2 Auxiliary Factor complex, along with the larger subunit U2AF2. U2AF1 is crucial for binding U2 snRNP to the pre-mRNA branch site. It recognizes and binds to AG nucleotides at the 3' splice site, facilitating spliceosome assembly. Different isoforms of U2AF1 are produced through alternative splicing. Mutations in U2AF1 have been linked to various cancers, with a specific pattern of mutations in the zinc fingers suggesting a functional role under selection. These mutations impact alternative splicing in lung cancers, including oncogenic ROS1 fusions. Deletion of U2AF1 in the mouse hematopoietic system leads to early lethality, indicating its importance for hematopoietic stem cell maintenance and function. U2AF1 interacts with proteins such as ASF/SF2, NXF1, RP9, SMNDC1, U2AF2, and ZRANB2.

U2AF1 plays a crucial role in both constitutive and enhancer-dependent splicing. It facilitates accurate 3'-splice site selection through protein-protein and protein-RNA interactions. U2AF1 recruits U2 snRNP to the branch point. It acts as a bridge between U2AF2 and enhancer complexes, enabling the recruitment of U2AF2 to adjacent introns.

U2AF1 is also known as FP793, RN, RNU2AF1, U2AF35, U2AFBP.

Associated Diseases

WES Whole Exome Sequencing