Domain

SF3B4, RNA recognition motif 2 (IPR034159)

Short name: SF3B4_RRM2

Overlapping homologous superfamilies

Domain relationships

Description

This entry represents the RNA recognition motif 2 (RRM2) of SF3B4, also termed pre-mRNA-splicing factor SF3b 49 kDa (SF3b50), or spliceosome-associated protein 49 (SAP 49). SF3B4 is a component of the multiprotein complex splicing factor 3b (SF3B), an integral part of the U2 small nuclear ribonucleoprotein (snRNP) and the U11/U12 di-snRNP. SF3B is essential for the accurate excision of introns from pre-messenger RNA, and is involved in the recognition of the pre-mRNA's branch site within the major and minor spliceosomes [PMID: 12738865]. SF3B4 functions to tether U2 snRNP with pre-mRNA at the branch site during spliceosome assembly [PMID: 7958871]. It is an evolutionarily highly conserved protein with orthologues across diverse species.

SF3B4 contains two closely adjacent N-terminal RNA recognition motifs (RRMs). It binds directly to pre-mRNA and also interacts directly and highly specifically with another SF3B subunit called SAP 145 [PMID: 7958871].

Mutations in the SF3B4 gene cause Nager syndrome, a form of acrofacial dysostosis which affects the development of the face, hands, and arms [PMID: 24003905].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
CDD