SF3B4 Antibody

1. SF3B4 indicates early-stage hepatocellular carcinoma in precancerous lesions, and also functions as an early-stage driver in the development of liver cancer. PMID: 29397868
2. We identified two heterozygous frameshift mutations in the SF3B4 gene in three of the four fetuses investigated. The observed mutation was apparently de novo in one fetus for whom parental DNA was available. Thus, Acrofacial dysostosis syndrome of Rodriguez is an autosomal dominant condition and the recurrences identified in the initial report were likely due to gonadal mosaicism. PMID: 27642715
3. A novel synonymous variant within exon 3 of the SF3B4 gene was identified in three members of a family affected by Nager syndrome. PMID: 27966544
4. Chemical shift mapping showed that the SF3b145 fragment spanning residues 598-631 interacts with SF3b49 RRM1, which adopts a canonical RRM fold with a topology of beta1-alpha1-beta2-beta3-alpha2-beta4. PMID: 27862552
5. SF3B4 mutations identified in Rodriguez Acrofacial Dysostosis patients disrupted mRNA splicing and reduced expression of DLX5, DLX6, SOX9, and SOX6 in cultured chondrocytes. PMID: 27622494
6. splicing factor 3b subunit 4 was found to inhibit the activity of signal transducer and activator of transcription 3 signaling via downregulating the phosphorylation of signal transducer and activator of transcription 3 on a tyrosine residue at position 705. PMID: 28351319
7. Overexpression of SF3B4, that is due to DNA copy number increase, is suggested to play a role in progression of HCC PMID: 27127115
8. High SF3B4 expression is associated with hepatocellular carcinoma. PMID: 25731616
9. SF3B4 haploinsufficiency confirmed as the major cause of Nager syndrome. PMID: 24003905
10. SF3B4 mutation is associated with Nager syndrome. PMID: 23568615
11. These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4. PMID: 22541558
12. Inhibiting the induction of two proteins involved in two of the most significantly upregulated cellular processes, ribosome biogenesis (eIF6) and hnRNA splicing (SF3B2/SF3B4), showed that human T cells can enter the cell cycle without growing in size. PMID: 22415777
13. determined the three-dimensional structure of the human SF3b complex by single-particle electron cryomicroscopy at a resolution of less than 10 angstroms, allowing identification of protein domains with known structural folds PMID: 12738865
14. SAP49 is regulated by the BMPR-IA tumor suppressor PMID: 15351706
15. SF3b4, known to be localized in the nucleus and involved in RNA splicing, binds BMPR-IA and specifically inhibits BMP-mediated osteochondral cell differentiation PMID: 17513295

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HGNC: 10771

OMIM: 154400

KEGG: hsa:10262

STRING: 9606.ENSP00000271628

UniGene: Hs.516160