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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SF3B1 Gene

protein-coding   GIFtS: 55
GCID: GC02M198256

Splicing Factor 3b, Subunit 1, 155kDa

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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
Splicing Factor 3b, Subunit 1, 155kD1     Pre-MRNA-Splicing Factor SF3b 155 KDa Subunit3
Hsh1552     SF3B1555
MDS2     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 myelofibrosis, and fanconi's anemia, and among its related super-pathways are mRNA Processing and Generic Transcription Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SF3B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
198,256,698 bp from pter      End:
198,299,815 bp from pter
Size:
43,118 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus speckle. Note=During mitosis, transiently dispersed from the nuclear speckles to the
cytoplasm
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:

  • UniProtKB: 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 mitosis
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75533

  • SF3B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SF3B1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001005526.1  NP_036565.2  

    ENSEMBL proteins: 
     ENSP00000335321   ENSP00000409435   ENSP00000428820   ENSP00000402997   ENSP00000419896  
     ENSP00000392117  
    Reactome Protein details: O75533
    Human Recombinant Protein Products for SF3B1: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18559850
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex NAS9585501
    GO:0005689U12-type spliceosomal complex IDA15146077
    GO:0016607nuclear speck IEA--

    SF3B1 for ontologies           About GeneDecksing



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    Assay Products for SF3B1: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    SF3B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI--
         
    SF3B1 for ontologies           About GeneDecksing


    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 

    SF3B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sf3b1tm1Hko for SF3B1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SF3B1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SF3B1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA processing0.46
    mRNA Processing0.85
    mRNA Splicing - Minor Pathway0.40
    mRNA Splicing - Major Pathway0.82
    Spliceosome0.31
    mRNA Splicing0.82
    2Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SF3B1
        mRNA processing

    5/6        Reactome Pathways for SF3B1 (see all 6)
        mRNA Splicing - Major Pathway
    mRNA Splicing
    Gene Expression
    mRNA Processing
    mRNA Splicing - Minor Pathway


    1         Kegg Pathway  (Kegg details for SF3B1):
        Spliceosome


    SF3B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SF3B1

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

    5/1002 Interacting proteins for SF3B1 (O755332, 3 ENSP000003353214) via UniProtKB, MINT, STRING, and/or I2D (see all 1002)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3B2Q134352, 3, ENSP000003188614MINT-7945693 MINT-6488590 MINT-6489355 MINT-7947479 MINT-8207078 I2D: score=1 STRING: ENSP00000318861
    SF3B14Q9Y3B42, 3, ENSP000002334684MINT-7945693 MINT-6488590 MINT-7947479 MINT-8333471 I2D: score=3 STRING: ENSP00000233468
    PLRG1O436602, 3, ENSP000003031914MINT-7945693 MINT-7947479 MINT-8333493 I2D: score=2 STRING: ENSP00000303191
    SNRNP200O756432, 3, ENSP000003171234MINT-7945693 MINT-7947479 MINT-6488791 I2D: score=2 STRING: ENSP00000317123
    PPP1CAP621362, 3, ENSP000003260314MINT-8292725 MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000326031
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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--

    SF3B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SF3B1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 ENST00000414963(uc002uuf.3) ENST00000487698(uc002uug.3)
    ENST00000414174
    miRNA
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    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 

    24/26 DOTS entries (see all 26):

    DT.100890228  DT.117995  DT.40108486  DT.121019490  DT.211923  DT.40306203  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 

    24/537 AceView cDNA sequences (see all 537):

    AI082722 CB110274 W73735 BU753929 CA431162 AA731843 C01564 AL599046 
    N63214 CB269064 BM353326 BP354400 BP376738 BF436793 BE168322 AK057684 
    AI869433 AA730850 AI753419 AI018793 AA887863 BP339514 AW002736 CA418879 

    GeneLoc Exon Structure

    5/9 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See SF3B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SF3B1

    SOURCE GeneReport for Unigene cluster: Hs.632554
        SABiosciences Custom PCR Arrays for SF3B1
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SF3B1 gene from 10/24 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 85.42(n)
    99.62(a)
      424056  XM_421912.3  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_134690.31  NP_608534.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T08A11.21 Protein T08A11.2 64.74(n)
    69.83(a)
      175549  NM_065452.3  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 putative splicing factor 66.05(n)
    72.02(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)
    About This Section
    Paralogs for SF3B1 gene
    1 SIMAP similar gene for SF3B1 using alignment to 8 protein entries:     SF3B1_HUMAN (see all proteins):
    DKFZp434M052

    SF3B1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/879 SNPs in SF3B1 are shown (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 (198256698 - 198299815 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SF3B1: --
    5/29 SABiosciences Cancer Mutation PCR Assays for SF3B1 (see all 29):
    Cosmic IdAA Change
    98000025K666T
    110693p.E622D
    98000021H662Q
    98000019H662D
    110696p.R625C
    1 SABiosciences Cancer Mutation PCR Array containing SF3B1:
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    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605590    OMIM disorders: --

    7 diseases for SF3B1:    About MalaCards
    myelofibrosis    fanconi's anemia    myelodysplastic syndromes    anemia
    chronic lymphocytic leukemia    breast cancer    leukemia


    SF3B1 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for SF3B1 gene, integrated from 9 sources (see all 127):
    (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. (1998)
    2. Molecular architecture of the multiprotein splicing factor SF3b. (PubMed id 12738865)1, 2, 9 Golas M.M....Stark H. (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. (2006)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PubMed id 16603771)1, 2 Cavellan E....Farrants A.K. (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. (2004)
    7. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (2002)
    8. 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....Luhrmann R. (2002)
    9. Phosphorylation-dependent interaction between the splicing factors SAP155 and NIPP1. (PubMed id 12105215)1, 2 Boudrez A.... Bollen M. (2002)
    10. Functional association of U2 snRNP with the ATP-independent spliceosomal complex E. (PubMed id 10882114)1, 2 Das R.... Reed R. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 23451 HGNC: 10768 AceView: SF3B1 Ensembl:ENSG00000115524 euGenes: HUgn23451
    ECgene: SF3B1 Kegg: 23451 H-InvDB: SF3B1

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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