Species Human Entrez 10262 | Human Mouse Ensembl ENSG00000143368 | |
 | ||
Aliases SF3B4, AFD1, Hsh49, SAP49, SF3b49, splicing factor 3b subunit 4 External IDs MGI: 109580 HomoloGene: 134086 GeneCards: SF3B4 | ||
Splicing factor 3B subunit 4 is a protein that in humans is encoded by the SF3B4 gene.
Contents
Function
This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA.
Disease associations
In 2012, Canadian researchers belonging to the FORGE (Finding of Rare disease GEnes) consortium identified new dominant mutations in SF3B4 as the cause of Nager syndrome, a rare type of mandibulofacial dysostosis with associated limb malformations.
Interactions
SF3B4 has been shown to interact with CDC5L, BMPR1A and SF3B2.