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SF3B1 Gene

protein-coding   GIFtS: 57
GCID: GC02M198256

Splicing Factor 3b, Subunit 1, 155kDa

(Previous names: splicing factor 3b, subunit 1, 155kD)
  See SF3B1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Splicing Factor 3b, Subunit 1, 155kDa1 2     PRP102
SAP1552 3 5     PRPF102
Spliceosome-Associated Protein 1552 3     Pre-MRNA Processing 102
SF3b1552 3     Pre-MRNA Splicing Factor SF3b, 155 KDa Subunit2
SAP 1552 3     Splicing Factor 3B Subunit 12
MDS2 5     Pre-MRNA-Splicing Factor SF3b 155 KDa Subunit3
Splicing Factor 3b, Subunit 1, 155kD1     SF3B1555
Hsh1552     

External Ids:    HGNC: 107681   Entrez Gene: 234512   Ensembl: ENSG000001155247   OMIM: 6055905   UniProtKB: O755333   

Export aliases for SF3B1 gene to outside databases

Previous GC identifers: GC02M196445 GC02M196969 GC02M198219 GC02M198459 GC02M198082 GC02M197964 GC02M190109


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SF3B1 Gene:
This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing
factor 3a and a 12S RNA unit, 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.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SF3B1 Gene:
SF3B1 (splicing factor 3b, subunit 1, 155kDa) is a protein-coding gene. Diseases associated with SF3B1 include myelodysplastic syndrome, somatic. GO annotations related to this gene include chromatin binding.

UniProtKB/Swiss-Prot: SF3B1_HUMAN, O75533
Function: Subunit of the splicing factor SF3B required for 'A' complex assembly formed by the stable binding of U2
snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream
of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of
the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare
class of nuclear pre-mRNA intron

Gene Wiki entry for SF3B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SF3B1 gene promoter:
         STAT5B   STAT1   STAT4   Bach2   STAT1beta   STAT5A   STAT1alpha   CREB   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSF3B1 promoter sequence
   Search Chromatin IP Primers for SF3B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SF3B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.1   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.1

SF3B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SF3B1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M198256:  view genomic region     (about GC identifiers)

Start:
198,254,508 bp from pter      End:
198,299,815 bp from pter
Size:
45,308 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SF3B1_HUMAN, O75533 (See protein sequence)
Recommended Name: Splicing factor 3B subunit 1  
Size: 1304 amino acids; 145830 Da
Subunit: Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type
spliceosome. Component of splicing factor SF3B which is composed of at least eight subunits;
SF3B1/SAP155/SF3B155, SF3B2/SAP145/SF3B155, SF3B3/SAP130/SF3B130, SF3B4/SAP49/SF3B49, SF3B14A, PHF5A/SF3B14B,
SF3B10 and SF3B125. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK,
MYO1C, ERCC6, MYBBP1A and DDX21. SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2
small nuclear ribonucleoproteins complex (U2 snRNP). SF3B1 interacts directly with the splicing factor U2AF.
Phosphorylated form interacts with PPP1R8
5 PDB 3D structures from and Proteopedia for SF3B1:
2F9D (3D)        2F9J (3D)        2FHO (3D)        2PEH (3D)        3LQV (3D)    
Secondary accessions: E9PCH3
Alternative splicing: 2 isoforms:  O75533-1   O75533-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SF3B1: NX_O75533

Explore proteomics data for SF3B1 at MOPED

Post-translational modifications: 

  • Phosphorylated. Phosphorylation occurs concomitantly with the splicing catalytic steps. Phosphorylation on
    Thr-244, Thr-248 and Thr-313 by cyclin-dependent kinases promotes interaction with PPP1R8 during mitosis1
  • Citrullinated by PADI4 (By similarity)1
  • Ubiquitination2 at Lys182, Lys195, Lys499, Lys793, Lys816, Lys926, Lys1014, Lys1102, Lys1292
  • Modification sites at PhosphoSitePlus

  • See SF3B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005526.1  NP_036565.2  

    ENSEMBL proteins: 
     ENSP00000335321   ENSP00000409435   ENSP00000428820   ENSP00000419896   ENSP00000402997  
     ENSP00000392117  
    Reactome Protein details: O75533

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    Cloud-Clone Corp. Proteins for SF3B1

     
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    antibodies-online peptides for SF3B1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011989 ARM-like
     IPR015016 SF3b_su1
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry O75533

    ProtoNet protein and cluster: O75533

    UniProtKB/Swiss-Prot: SF3B1_HUMAN, O75533
    Similarity: Belongs to the SF3B1 family
    Similarity: Contains 11 HEAT repeats


    Find genes that share domains with SF3B1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SF3B1_HUMAN, O75533
    Function: Subunit of the splicing factor SF3B required for 'A' complex assembly formed by the stable binding of U2
    snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream
    of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of
    the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare
    class of nuclear pre-mRNA intron

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with SF3B1           About GenesLikeMe


    Phenotypes:
         11 GenomeRNAi human phenotypes for SF3B1:
     Cell division defect  Decreased homologous recombina  Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/ 
     Decreased influenza A virus in  Decreased influenza A/WSN/33 r  Decreased viability of wild-ty  Increased G2M DNA content 
     Increased gamma-H2AX phosphory  Increased number of cells in m  Increased number of mitotic ce 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sf3b1):
     mortality/aging  skeleton 

    Find genes that share phenotypes with SF3B1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sf3b1tm1Hko for SF3B1

       genOway: Develop your customized and physiologically relevant rodent model for SF3B1

    miRNA
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    miRTarBase miRNAs that target SF3B1:
    hsa-mir-423-3p (MIRT042496), hsa-mir-504-5p (MIRT041092), hsa-mir-615-3p (MIRT040227), hsa-let-7b-5p (MIRT052156), hsa-mir-1260b (MIRT052776)

    Block miRNA regulation of human, mouse, rat SF3B1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SF3B1 (see all 17):
    hsa-miR-4291 hsa-miR-148b* hsa-miR-3669 hsa-miR-517a hsa-miR-876-5p hsa-miR-517c hsa-miR-211 hsa-miR-3167
    SwitchGear 3'UTR luciferase reporter plasmidSF3B1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SF3B1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): SF3B1 (NM_001005526)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SF3B1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SF3B1_HUMAN, O75533: Nucleus speckle. Note=During mitosis, transiently dispersed from the nuclear speckles to the
    cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane3
    cytosol1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex NAS9585501
    GO:0005689U12-type spliceosomal complex IDA15146077
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with SF3B1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SF3B1 About    
    See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA processing0.44
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    mRNA Splicing0.78
    2Gene Expression
    Gene Expression0.40
    3Spliceosome
    Spliceosome


    Find genes that share SuperPaths with SF3B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SF3B1
        mRNA processing

    2 Reactome Pathways for SF3B1
        mRNA Splicing - Major Pathway
    mRNA Splicing - Minor Pathway


    1 Kegg Pathway  (Kegg details for SF3B1):
        Spliceosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SF3B1
    Interactions:

        GeneGlobe Interaction Network for SF3B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SF3B1 (O755331, 2, 3 ENSP000003353214) via UniProtKB, MINT, STRING, and/or I2D (see all 1089)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3B6Q9Y3B42, 3, ENSP000002334684MINT-7945693 MINT-6488590 MINT-7947479 MINT-8333471 I2D: score=3 STRING: ENSP00000233468
    RBM17Q96I251, 2, ENSP000003692184EBI-876542,EBI-740272 MINT-8332416 MINT-7945693 MINT-7947479 MINT-8333482 STRING: ENSP00000369218
    PLRG1O436602, 3, ENSP000003031914MINT-7945693 MINT-7947479 MINT-8333493 I2D: score=2 STRING: ENSP00000303191
    PPP1CAP621362, 3, ENSP000003260314MINT-8292725 MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000326031
    SNRPD3P623182, 3, ENSP000002158294MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000215829
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000375RNA splicing, via transesterification reactions NAS9585501
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0008380RNA splicing TAS--
    GO:0009952anterior/posterior pattern specification IEA--
    GO:0010467gene expression TAS--

    Find genes that share ontologies with SF3B1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SF3B1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SF3B1 gene (2 alternative transcripts): 
    NM_001005526.1  NM_012433.2  

    Unigene Cluster for SF3B1:

    Splicing factor 3b, subunit 1, 155kDa
    Hs.632554  [show with all ESTs]
    Unigene Representative Sequence: NM_012433
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335508(uc002uue.3 uc010fsk.1) ENST00000479532 ENST00000424674
    ENST00000496458 ENST00000462613 ENST00000468925 ENST00000470268 ENST00000482158
    ENST00000409915 ENST00000487698(uc002uug.3) ENST00000414963(uc002uuf.3)
    ENST00000414174
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SF3B1 (see all 17):
    hsa-miR-4291 hsa-miR-148b* hsa-miR-3669 hsa-miR-517a hsa-miR-876-5p hsa-miR-517c hsa-miR-211 hsa-miR-3167
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    GenScript: all cDNA clones in your preferred vector (see all 2): SF3B1 (NM_001005526)
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat SF3B1

    Additional mRNA sequence: 

    AF054284.1 AF070540.1 AF086296.1 AK057684.1 AK290470.1 AK294851.1 AK308122.1 AL137410.1 
    BC015530.1 BC029418.1 BC039020.1 BC046140.1 BC056155.1 BC064335.1 BC107883.1 

    Selected DOTS entries (see all 26):

    DT.100890228  DT.117995  DT.40108486  DT.121019490  DT.40306203  DT.211923  DT.101986332  DT.95172755 
    DT.95295493  DT.99970480  DT.100890225  DT.100890229  DT.121019486  DT.121019488  DT.100890215  DT.100890218 
    DT.121019493  DT.121019536  DT.211924  DT.95072028  DT.95172753  DT.97855792  DT.100890231  DT.120786062 

    Selected AceView cDNA sequences (see all 537):

    AK057684 BM836356 BU753929 BC064335 AL599046 BX402443 T24906 AA731843 
    BU616787 AI620263 T31471 BG527674 AA477578 AA923028 Z44539 CA415584 
    CB132766 BQ221731 AI140522 F03610 BE141902 CB128858 BU618995 BM740909 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SF3B1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                                            -     -     -     -                                                                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                            -     -     -                                                                                                   
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b
    SP1:                                                      
    SP2:  -                       -                           
    SP3:  -                       -                           
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for SF3B1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SF3B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTTTAAAT
    SF3B1 Expression
    About this image


    SF3B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    SF3B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SF3B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632554
        Custom PCR Arrays for SF3B1
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    OriGene qSTAR qPCR primer pairs in human, mouse for SF3B1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SF3B1
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    QuantiFast Probe-based Assays in human, mouse, rat SF3B1
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SF3B1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SF3B1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sf3b11 , 5 splicing factor 3b, subunit 11, 5 93.02(n)1
    100(a)1
      1 (27.98 cM)5
    818981  NM_031179.21  NP_112456.21 
     549851695 
    chicken
    (Gallus gallus)
    Aves SF3B11 splicing factor 3b, subunit 1, 155kDa 85.34(n)
    99.46(a)
      424056  XM_421912.4  XP_421912.3 
    lizard
    (Anolis carolinensis)
    Reptilia SF3B16
    splicing factor 3b, subunit 1, 155kDa
    99(a)
    1 ↔ 1
    GL343436.1(731405-778773)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.25992 Xenopus laevis mRNA for 146 kDa nuclear protein 80.54(n)    Y08997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb99f092 Transcribed sequence with strong similarity to protein more 78.55(n)    CA474974.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG28071 , 3 mRNA splicing pre-mRNA splicing factor3
    CG28071
    76(a)3
    68.04(n)1
    81.15(a)1
      21D13
    332351  NM_001272908.11  NP_001259837.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T08A11.21 T08A11.2 65.2(n)
    70.73(a)
      175549  NM_065452.4  NP_497853.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HSH155(YMR288W)4 U2-snRNP associated splicing factor that forms extensive more   --   13(845571-848486) 855332  NP_014015.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G642701 AT5G64270 66.61(n)
    72.81(a)
      836548  NM_125823.2  NP_201232.1 
    rice
    (Oryza sativa)
    Liliopsida Os.353372 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.88(n)    AK067944.1 


    ENSEMBL Gene Tree for SF3B1 (if available)
    TreeFam Gene Tree for SF3B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SF3B1 gene
    1 SIMAP similar gene for SF3B1 using alignment to 8 protein entries:     SF3B1_HUMAN (see all proteins):
    DKFZp434M052

    Find genes that share paralogs with SF3B1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SF3B1 (see all 879)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs757061151,2
    F--197645385(+) ATTGTC/TCTGTT 1 -- ds50012Minor allele frequency- T:0.09CSA WA 120
    rs1466206961,2
    --197645550(+) AATCAA/CGAGAT 1 -- ds50010--------
    rs1909334501,2
    --197645630(+) AATGGG/TTGTGC 1 -- ds50010--------
    rs1827274981,2
    --197645647(+) GAGGGC/GAACAT 1 -- ds50010--------
    rs1412940791,2
    --197645822(+) AGTTCC/TGCATT 1 -- ds50010--------
    rs739884571,2
    C,F--197645823(+) GTTCCG/TCATTT 1 -- ds50012Minor allele frequency- T:0.10WA 120
    rs10448891,2
    F--197646005(-) AAATGC/GCAGTA 1 -- ut31 ese30--------
    rs1906242811,2
    --197646080(+) CCTCTA/GTGACC 1 -- ut310--------
    rs729128881,2
    C,F--197646169(+) TTAAAC/GACAAA 1 -- ut312Minor allele frequency- G:0.01NA EU 1405
    rs1502263531,2
    C,F--197646197(+) AAGATA/GTAGTC 2 Y syn11Minor allele frequency- G:0.00NA 4502

    HapMap Linkage Disequilibrium report for SF3B1 (198254508 - 198299815 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SF3B1: --
    Selected Site Specific Mutation Identification with PCR Assays for SF3B1 (see all 29):
    Cosmic IdAA Change
    98000025K666T
    110693p.E622D
    98000021H662Q
    98000019H662D
    110696p.R625C
    1 Site Specific Cancer Mutation PCR Panel containing SF3B1:
    Myelodysplastic Syndromes
    SeqTarget long-range PCR primers for resequencing SF3B1
    DNA2.0 Custom Variant and Variant Library Synthesis for SF3B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605590   
    OMIM disorders: 614286  
    1 disease for SF3B1:    
    About MalaCards
    myelodysplastic syndrome, somatic


    Find genes that share disorders with SF3B1           About GenesLikeMe


    Export disorders for SF3B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SF3B1 gene, integrated from 10 sources (see all 140):
    (articles sorted by number of sources associating them with SF3B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis. (PubMed id 9585501)1, 2, 3, 9 Wang C.... Reed R. (Genes Dev. 1998)
    2. Molecular architecture of the multiprotein splicing factor SF3b. (PubMed id 12738865)1, 2, 9 Golas M.M.... Stark H. (Science 2003)
    3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PubMed id 16603771)1, 2 Cavellan E.... Oestlund Farrants A.-K. (J. Biol. Chem. 2006)
    6. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PubMed id 15146077)1, 2 Will C.L.... Luehrmann R. (RNA 2004)
    7. Phosphorylation-dependent interaction between the splicing factors SAP155 and NIPP1. (PubMed id 12105215)1, 2 Boudrez A.... Bollen M. (J. Biol. Chem. 2002)
    8. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    9. Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein. (PubMed id 12234937)1, 2 Will C.L.... Luehrmann R. (EMBO J. 2002)
    10. Functional association of U2 snRNP with the ATP-independent spliceosomal complex E. (PubMed id 10882114)1, 2 Das R.... Reed R. (Mol. Cell 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23451 HGNC: 10768 AceView: SF3B1 Ensembl:ENSG00000115524 euGenes: HUgn23451
    ECgene: SF3B1 Kegg: 23451 H-InvDB: SF3B1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SF3B1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SF3B1 gene:
    Search GeneIP for patents involving SF3B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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