SF3B4

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
1X5T, 1X5U

Identifiers

Aliases

SF3B4, AFD1, Hsh49, SAP49, SF3b49, splicing factor 3b subunit 4

External IDs

MGI: 109580 HomoloGene: 134086 GeneCards: SF3B4

Gene ontology
Molecular function	• protein binding • nucleic acid binding • RNA binding
Cellular component	• U12-type spliceosomal complex • nucleus • nucleoplasm • spliceosomal complex
Biological process	• RNA splicing, via transesterification reactions • mRNA splicing, via spliceosome • positive regulation of mRNA splicing, via spliceosome • mRNA processing • RNA splicing
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


10262


107701

Ensembl


ENSG00000143368


ENSMUSG00000068856

UniProt


Q15427 Q5SZ64


Q8QZY9

RefSeq (mRNA)


NM_005850


NM_153053

RefSeq (protein)


NP_005841


NP_694693

Location (UCSC)

Chr 1: 149.92 – 149.93 Mb

Chr 3: 96.17 – 96.18 Mb

PubMed search

Splicing factor 3B subunit 4 is a protein that in humans is encoded by the SF3B4 gene.

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.

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.

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