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FLASH GENE
Symbol SF3B1 contributors: mct - updated : 06-11-2015
HGNC name splicing factor 3b, subunit 1, 155kDa
HGNC id 10768
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eleven HEAT repeats
  • HOMOLOGY
    interspecies homolog to rattus Sf3b1 (100 pc)
    homolog to murine Sf3b1 (99.9 pc)
    Homologene
    FAMILY
  • SF3B1 family
  • CATEGORY RNA associated , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • spliceosome
  • during mitosis, transiently dispersed from the nuclear speckles to the cytoplasm
  • basic FUNCTION
  • required for the assembly of the spliceosomal complex
  • involved in the assembly of the 'E' complex
  • involved in the splicing of rare class of nuclear pre-mRNA intron
  • only spliceosomal protein known to be phosphorylated concomitant with splicing catalysis
  • essential component of the spliceosome and its phosphorylation is required for splicing catalysis
  • active spliceosome, containing phosphorylated SF3B1, performs potenbtially pre-mRNA splicing on chromatin concomitant with transcription during testicular development
  • spliceosomal protein, and probably tumor suppressor
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS development
    text
  • anterior/posterior pattern formation
  • PATHWAY
    metabolism
    signaling
    a component
  • component of the "a" complex in the spliceosome assembly pathway
  • minor U12-dependent spliceosome
  • core component of RNA splicing machinery
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • U2SnRNP
  • U11/U12SnRNP associated splice protein
  • associating with other SF3b proteins
  • interacting with SAP130
  • interacting directly with the splicing factor U2AF
  • interacting with PPP1R8 during mitosis (phosphorylated form of SF3B1)
  • substrate of the protein kinase DYRK1A, suggesting that DYRK1A may be involved in the regulation of pre mRNA-splicing
  • PPP1R8 promotes SF3B1 dephosphorylation (specifically recognizes hyperphosphorylated SF3B1 thorough its Forkhead-associated domain and dissociates from SF3B1 after dephosphorylation by associated protein phosphatase-1)
  • cell & other
    REGULATION
    Phosphorylated by DYRK1A (DYRK1A ias a protein kinase that phosphorylates SF3B1)
    Other phosphorylation on Thr-244, Thr-248 and Thr-313 by cyclin-dependent kinases, occurs concomitantly with the splicing catalytic steps
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    in myelodysplasia, with increased ring sideroblasts, that is, refractory anaemia with ring sideroblasts (RARS) and refractory cytopenia with multilineage dysplasia
    tumoral somatic mutation      
    probably occur during chronic lymphocytic leukemia development
    tumoral somatic mutation      
    are prevalent in low-risk myelodysplastic syndromes with ring sideroblasts
    tumoral somatic mutation      
    in chronic lymphocytic leukemia
    tumoral somatic mutation      
    in patients with myelodysplastic syndrome, with myelodysplastic/myeloproliferative neoplasms and with AML
    constitutional somatic mutation      
    more than 90% of the patients with Refractory anemia with ring sideroblasts (RARS) carry somatic mutations in SF3B1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS