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FLASH GENE
Symbol SF3B1 contributors: mct - updated : 06-11-2012
HGNC name splicing factor 3b, subunit 1, 155kDa
HGNC id 10768
Location 2q33.1      Physical location : 198.256.699 - 198.299.771
Synonym name
  • spliceosome-associated protein 155
  • pre-mRNA processing 10
  • pre-mRNA splicing factor SF3b, 155 kDa subunit
  • Synonym symbol(s) SAP155, PRP10, PRPF10, SF3b155, Hsh155, MDS
    DNA
    TYPE functioning gene
    STRUCTURE 43.07 kb     26 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC343981 2q33.1 similar to Glutamine synthetase (Glutamate--ammonia ligase) LOC391470 2 similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine hydrolase) (AdoHcyase) SLC39A10 2q33.1 solute carrier family 39 (zinc transporter), member 10 DNAH7 2q33-1 dynein, axonemal, heavy polypeptide 7 STK17B 2q33.1 serine/threonine kinase 17b (apoptosis-inducing) NEDL2 2q33.1 serine/threonine kinase 17b (apoptosis-inducing) FLJ39660 2q33.1 hypothetical protein FLJ39660 LOC200624 2q33.1 hypothetical LOC200624 DKFZp434P055 2q33.1 hypothetical protein DKFZp434P055 GTF3C3 2q33.1 general transcription factor IIIC, polypeptide 3, 102kDa LOC389068 2 similar to ISPD3024 FLJ12377 LOC91526 2q33.1 hypothetical protein DKFZp434D2328 LOC391471 2 similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 SF3B1 2p23.3-q34 splicing factor 3b, subunit 1, 155kDa FLJ13448 2q33.1 hypothetical protein FLJ13448 HSPD1 2q33.1 heat shock 60kDa protein 1 (chaperonin) HSPE1 2q33.1 heat shock 10kDa protein 1 (chaperonin 10) PREI3 2q33.1 preimplantation protein 3 C2orf11 2q33.1 chromosome 2 open reading frame 11 LOC92935 2q33.1 hypothetical protein BC009115 BOLL 2q33.1 bol, boule-like (Drosophila) PLCL1 2q33 phospholipase C-like 1 SATB2 2q32-q33 SATB family member 2 FLJ32063 2q33.1 hypothetical protein FLJ32063 LOC389069 2 similar to selenophosphate synthetase 1 LOC389070 2 LOC389070 FLJ38973 2q33.1 hypothetical protein FLJ38973 FLJ37953 2q33.1 hypothetical protein FLJ37953 FLJ22555 2q33.1 hypothetical protein FLJ22555 DNAPTP6 2q33.2 DNA polymerase-transactivated protein 6 FLJ37818 2q33.2 hypothetical protein FLJ37818 FLJ31322 2q33.2 hypothetical protein FLJ31322 TRIPIN 2q33.2 tripin AOX1 2q33 aldehyde oxidase 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 splicing 4314 145.7 1304 - 2006 16790528
    5 splicing 647 15.9 144 - 2006 16790528
  • using an alternate splice site in the 3' coding region compared to variant 1, that results in a frameshift
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
     stomach   moderately
    Endocrinethyroid   predominantly
    Hearing/Equilibriumear   highly
    Reproductivemale systemtestis  moderately Mus musculus
     male systemmale genital tractseminiferous tubule lowly Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    Connectivebone  moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell Mus musculus
    ReproductiveSertoli cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS