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SF3B1

Chr 2q33.1

splicing factor 3b subunit 1

Aliases:
SAP155, SF3b155, PRPF10, Prp10, Hsh155
MANE:
ENST00000335508.11
OMIM: 605590 ↗NCBI: 23451 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Cytopenias and congenital anaemias

    Other - please specify in evaluation comments

  • Rare anaemia

    Unknown

Disease associations (Open Targets)

  • B-cell chronic lymphocytic leukemia

    0.73

  • myelodysplastic syndrome

    0.64

  • lymphoid leukemia

    0.56

  • myeloproliferative disorder

    0.54

  • breast adenocarcinoma

    0.54

  • neurodegenerative disease

    0.50

  • leukemia

    0.50

  • uveal melanoma

    0.47

  • Alzheimer disease

    0.46

  • multiple sclerosis

    0.46

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Splicing factor 3B subunit 1

Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310, PubMed:36104565). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:32494006, PubMed:34822310, PubMed:36104565). Within the 17S U2 SnRNP complex, SF3B1 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA (PubMed:12234937, PubMed:36104565). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932). Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity)

Diseases associated with SF3B1

Curated MONDO disease pages that list SF3B1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.