SF3B4

Splicing factor 3B subunit 4 is a protein that in humans is encoded by the SF3B4 gene.^[5][6]

SF3B4
Available structures PDB 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	OMIM: 605593; MGI: 109580; HomoloGene: 134086; GeneCards: SF3B4; OMA:SF3B4 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.2 Start 149,923,317 bp[1] End 149,927,803 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.1 Start 96,079,648 bp[2] End 96,084,880 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon granulocyte left uterine tube left testis right testis popliteal artery tibial arteries monocyte right coronary artery olfactory zone of nasal mucosa Top expressed in tail of embryo genital tubercle epiblast neural tube embryo mesencephalon embryo yolk sac ventricular zone ganglionic eminence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding nucleic acid binding RNA binding Cellular component U12-type spliceosomal complex nucleus nucleoplasm spliceosomal complex nucleolus U2-type precatalytic spliceosome ribonucleoprotein 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
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: 96.08 – 96.08 Mb PubMed search [3] [4]
Wikidata
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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.^[6]

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.^[7]

Interactions

SF3B4 has been shown to interact with CDC5L,^[8] BMPR1A^[9] and SF3B2.^[5][10]