SF3B1

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Protein-coding gene in humans

title: "SF3B1" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public description: "Protein-coding gene in humans" topic_path: "uncategorized" source: "https://en.wikipedia.org/wiki/SF3B1" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in humans ::

Splicing factor 3B subunit 1 is a protein that in humans is encoded by the SF3B1 gene.

Function

This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and U2 spliceosomal RNA, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms.

Interactions

SF3B1 has been shown to interact with:

Clinical relevance

Mutations in this gene have been recurrently seen in cases of advanced chronic lymphocytic leukemia, myelodysplastic syndromes and breast cancer. SF3B1 mutations are found in the vast majority of myelodysplastic syndrome with ring sideroblasts (MDS-RS) and MDS with ring sideroblasts and thrombocytosis (MDS-RS-T), so much so that mutated SF3B1 has become a diagnostic criterion for these per the 5th edition of the WHO Classification and the International Consensus Classification (ICC).

There is also an emerging body of evidence to suggest implications of SF3B1 mutations being involved in orbital melanoma.

Inhibitors

References

References

  1. (May 1998). "Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis". Genes & Development.
  2. "Entrez Gene: SF3B1 splicing factor 3b, subunit 1, 155kDa".
  3. (December 2000). "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry". The EMBO Journal.
  4. (August 2002). "Phosphorylation-dependent interaction between the splicing factors SAP155 and NIPP1". The Journal of Biological Chemistry.
  5. (September 2002). "Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein". The EMBO Journal.
  6. (October 1999). "Characterization of a protein complex containing spliceosomal proteins SAPs 49, 130, 145, and 155". Molecular and Cellular Biology.
  7. (August 2001). "A novel U2 and U11/U12 snRNP protein that associates with the pre-mRNA branch site". The EMBO Journal.
  8. (December 2011). "Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia". Nature Genetics.
  9. (December 2011). "Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms". Blood.
  10. (October 2012). "Comprehensive molecular portraits of human breast tumours". Nature.

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