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SF3A1 Gene

protein-coding   GIFtS: 63
GCID: GC22M030727

Splicing Factor 3a, Subunit 1, 120kDa

(Previous names: splicing factor 3a, subunit 1, 120kD)
  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)
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Aliases
Splicing Factor 3a, Subunit 1, 120kDa1 2     PRPF212
SAP1142 3 5     Pre-MRNA Processing 212
Spliceosome-Associated Protein 1142 3     Pre-MRNA Splicing Factor SF3a (120 KDa Subunit)2
SAP 1142 3     Splicing Factor 3 Subunit 12
PRP212 5     Splicing Factor 3A Subunit 12
SF3A1202 5     SF3a1203
Splicing Factor 3a, Subunit 1, 120kD1     

External Ids:    HGNC: 107651   Entrez Gene: 102912   Ensembl: ENSG000000999957   OMIM: 6055955   UniProtKB: Q154593   

Export aliases for SF3A1 gene to outside databases

Previous GC identifers: GC22M027424 GC22M029052 GC22M029054 GC22M013689


(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 SF3A1 Gene:
This gene encodes subunit 1 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer
includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S
particle that performs pre-mRNA splicing. Subunit 1 belongs to the SURP protein family; named for the SURP (also
called SWAP or Suppressor-of-White-APricot) motifs that are thought to mediate RNA binding. Subunit 1 has
tandemly repeated SURP motifs in its amino-terminal half while its carboxy-terminal half contains a proline-rich
region and a ubiquitin-like domain. Binding studies with truncated subunit 1 derivatives demonstrated that the
two SURP motifs are necessary for binding to subunit 3 while contacts with subunit 2 may occur through sequences
carboxy-terminal to the SURP motifs. Alternative splicing results in multiple transcript variants encoding
different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for SF3A1 Gene:
SF3A1 (splicing factor 3a, subunit 1, 120kDa) is a protein-coding gene. Diseases associated with SF3A1 include fanconi's anemia, and breast and colorectal cancer. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot: SF3A1_HUMAN, Q15459
Function: Subunit of the splicing factor SF3A 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

Gene Wiki entry for SF3A1 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:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SF3A1 gene promoter:
         p53   Olf-1   Nkx2-5   HNF-3beta   E47   POU2F1   POU2F1a   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSF3A1 promoter sequence
   Search Chromatin IP Primers for SF3A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SF3A1


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

SF3A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SF3A1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M030727:  view genomic region     (about GC identifiers)

Start:
30,727,977 bp from pter      End:
30,752,936 bp from pter
Size:
24,960 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SF3A1_HUMAN, Q15459 (See protein sequence)
Recommended Name: Splicing factor 3A subunit 1  
Size: 793 amino acids; 88886 Da
Subunit: Identified in the spliceosome C complex. Component of splicing factor SF3A which is composed of three
subunits; SF3A3/SAP61, SF3A2/SAP62, SF3A1/SAP114. SF3A associates with the splicing factor SF3B and a 12S RNA
unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Interacts with SF3A3
3 PDB 3D structures from and Proteopedia for SF3A1:
1ZKH (3D)        2DT6 (3D)        2DT7 (3D)    

Explore the universe of human proteins at neXtProt for SF3A1: NX_Q15459

Explore proteomics data for SF3A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys55, Lys80, Lys188, Lys223, Lys251, Lys419, Lys467, Lys708
  • Modification sites at PhosphoSitePlus

  • See SF3A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005409.1  NP_005868.1  

    ENSEMBL proteins: 
     ENSP00000215793   ENSP00000412715   ENSP00000400862   ENSP00000397267   ENSP00000390336  
    Reactome Protein details: Q15459

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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:
     IPR022030 PRP21-like
     IPR000061 Surp
     IPR000626 Ubiquitin_dom

    Graphical View of Domain Structure for InterPro Entry Q15459

    ProtoNet protein and cluster: Q15459

    2 Blocks protein domains:
    IPB000061 SWAP/Surp
    IPB000626 Ubiquitin domain


    UniProtKB/Swiss-Prot: SF3A1_HUMAN, Q15459
    Domain: SURP motif 2 mediates direct binding to SF3A3
    Similarity: Contains 2 SURP motif repeats
    Similarity: Contains 1 ubiquitin-like domain


    SF3A1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SF3A1_HUMAN, Q15459
    Function: Subunit of the splicing factor SF3A 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IDA10882114
    GO:0005515protein binding IPI10976766
    GO:0044822poly(A) RNA binding IDA--
         
    SF3A1 for ontologies           About GeneDecksing


    Phenotypes:
         13 GenomeRNAi human phenotypes for SF3A1:
     Cell division defect  Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 
     Decreased Salmonella enterica   Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased viability 
     Increased G2M DNA content  Increased cell death in HCC-19  Increased gamma-H2AX phosphory  Low eccentricity cells 
     Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Sf3a1):
     mortality/aging 

    SF3A1 for phenotypes           About GeneDecksing

    Animal Models:
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SF3A1 (see all 16):
    hsa-miR-125a-3p hsa-miR-486-3p hsa-miR-520a-5p hsa-miR-28-5p hsa-miR-3662 hsa-miR-3155b hsa-miR-1298 hsa-miR-3155
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    Inhib. RNA
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    (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
    SF3A1_HUMAN, Q15459: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    peroxisome2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IDA9731529
    GO:0005684U2-type spliceosomal complex IDA10882114
    GO:0005730NOT nucleolus IDA--

    SF3A1 for ontologies           About GeneDecksing


    (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 SF3A1 About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SF3A1
        mRNA processing

    1 Reactome Pathway for SF3A1
        mRNA Splicing - Major Pathway


    1 Kegg Pathway  (Kegg details for SF3A1):
        Spliceosome


    SF3A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SF3A1
    Interactions:

        GeneGlobe Interaction Network for SF3A1

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

    Selected Interacting proteins for SF3A1 (Q154591, 2, 3 ENSP000002157934) via UniProtKB, MINT, STRING, and/or I2D (see all 924)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3A2Q154281, 2, 3, ENSP000002214944EBI-1054743,EBI-2462271 MINT-5205440 MINT-8332317 MINT-7947479 MINT-8333383 I2D: score=5 STRING: ENSP00000221494
    PRPF40AO754001, 2, 3EBI-1054743,EBI-473291 MINT-7945693 MINT-8333163 MINT-8331514 I2D: score=2 
    RBM10P981751, 2, ENSP000003668294EBI-1054743,EBI-721525 MINT-7945693 MINT-8333405 MINT-8332163 STRING: ENSP00000366829
    NCOR1O753762, 3, ENSP000002687124MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000268712
    GAS7O608612, 3, ENSP000003226084MINT-72909 I2D: score=3 STRING: ENSP00000322608
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000389mRNA 3'-splice site recognition TAS15647371
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006396RNA processing ----
    GO:0006397mRNA processing IMP15647371
    GO:0008380RNA splicing TAS--

    SF3A1 for ontologies           About GeneDecksing



    (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 SF3A1



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SF3A1 gene (2 alternative transcripts): 
    NM_001005409.1  NM_005877.4  

    Unigene Cluster for SF3A1:

    Splicing factor 3a, subunit 1, 120kDa
    Hs.406277  [show with all ESTs]
    Unigene Representative Sequence: NM_005877
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215793 ENST00000411423 ENST00000444440 ENST00000485618 ENST00000498259
    ENST00000447376 ENST00000471037 ENST00000471342 ENST00000463818 ENST00000496189
    ENST00000439242(uc003ahl.3 uc021wnt.1)
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    hsa-miR-125a-3p hsa-miR-486-3p hsa-miR-520a-5p hsa-miR-28-5p hsa-miR-3662 hsa-miR-3155b hsa-miR-1298 hsa-miR-3155
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      QuantiFast Probe-based Assays in human, mouse, rat SF3A1

    Additional mRNA sequence: 

    AK098463.1 AK303273.1 BC001976.1 BC007684.2 CR456575.1 X85237.1 

    Selected DOTS entries (see all 28):

    DT.219200  DT.95070938  DT.100038324  DT.95271017  DT.100828643  DT.100828650  DT.95317027  DT.75139251 
    DT.120634019  DT.95271011  DT.95226342  DT.120634051  DT.100828648  DT.95271002  DT.99983800  DT.100761772 
    DT.120634010  DT.40109584  DT.95271003  DT.100806150  DT.100828645  DT.120633998  DT.120634082  DT.40214031 

    Selected AceView cDNA sequences (see all 664):

    BU192475 BF940203 AA457017 AA908214 X85237 BU855735 BG403546 BE255475 
    BC001976 BM917852 AI160209 AI373397 AI423003 AI339450 CB108407 CA390407 
    BM478914 BU153774 BU855906 BU731313 BE408862 AI991765 BQ613781 BU156770 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SF3A1 (see all 10)    About this scheme

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

    ExUns: 17 ^ 18
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for SF3A1

    (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)
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    SF3A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTTGTCTAA
    SF3A1 Expression
    About this image


    SF3A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    SF3A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SF3A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.406277

    UniProtKB/Swiss-Prot: SF3A1_HUMAN, Q15459
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SF3A1

    (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 SF3A1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sf3a11 , 5 splicing factor 3a, subunit 11, 5 90.67(n)1
    98.58(a)1
      11 (2.91 cM)5
    674651  NM_026175.51  NP_080451.41 
     41603505 
    chicken
    (Gallus gallus)
    Aves SF3A11 splicing factor 3a, subunit 1, 120kDa 81.07(n)
    92.52(a)
      427717  NM_001031472.1  NP_001026643.1 
    lizard
    (Anolis carolinensis)
    Reptilia SF3A16
    splicing factor 3a, subunit 1, 120kDa
    88(a)
    1 ↔ 1
    GL343417.1(117453-124205)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.74782 Xenopus laevis cDNA clone IMAGE5570158 79.74(n)    BC052220.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sf3a12 splicing factor 3a, subunit 1 81.03(n)   368732  BC056521.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG169411 , 3 mRNA splicing pre-mRNA splicing factor3
    CG169411
    61(a)3
    61.67(n)1
    61.99(a)1
      420481  NM_142326.31  NP_650583.11 
    worm
    (Caenorhabditis elegans)
    Secernentea prp-211 , 3 splicing factor3
    prp-211
    43(a)3
    52.81(n)1
    47.3(a)1
      II(484868-490278)3
    1734401  NM_061345.71  NP_493746.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRP21(YJL203W)4 Subunit of the SF3a splicing factor complex, required more   --   10(53341-54183) 853227  NP_012332.1 
    rice
    (Oryza sativa)
    Liliopsida Os.72642 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.79(n)    AK119874.1 


    ENSEMBL Gene Tree for SF3A1 (if available)
    TreeFam Gene Tree for SF3A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 SF3A1 (see all 598)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362904
    A colorectal cancer sample4--see VAR_0362902 R W mis40--------
    rs1825708531,2
    --14649993(+) CTCCCA/GAGTAG 2 -- int10--------
    rs1866501121,2
    --14650092(+) GAACTC/TGCGAC 2 -- int10--------
    rs1134686591,2
    C,F--14650119(+) GCCTCG/AGCCTC 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1169616041,2
    F--14650361(+) TTACAG/AGGATA 2 -- ut311Minor allele frequency- A:0.01NA 120
    rs1903805481,2
    --14650388(+) TAATAC/GTACAT 2 -- ut310--------
    rs1829270151,2
    --14650393(+) GTACAG/TGTATT 2 -- ut310--------
    rs1180969131,2
    C,F--14650586(+) GAGCCC/TTCTGC 2 -- ut311Minor allele frequency- T:0.04EA 120
    rs103761,2
    C,F,A,H--14650629(+) CCCACC/ACCACC 2 -- ut3121Minor allele frequency- A:0.11NS EA NA WA CSA 1836
    rs1404012981,2
    --14650667(+) GCACTC/TATTCC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for SF3A1 (30727977 - 30752936 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SF3A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724134CNV Deletion23290073
    esv2724135CNV Deletion23290073
    esv1167139CNV Deletion17803354
    esv2724136CNV Deletion23290073
    esv996703CNV Deletion20482838
    nsv829171CNV Loss20364138
    nsv3593CNV Loss18451855
    nsv914970CNV Loss21882294
    nsv834174CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SF3A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SF3A1

    (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: 605595    OMIM disorders: --

    12 diseases for SF3A1:    
    About MalaCards
    fanconi's anemia    breast and colorectal cancer    tonsillitis    hiv-1
    colorectal cancer    multiple myeloma    myeloma    thyroiditis
    malaria    cerebritis    prostatitis    endotheliitis


    SF3A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SF3A1
    Human Genome Epidemiology (HuGE) Navigator: SF3A1 (1 document)

    Export disorders for SF3A1 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 SF3A1 gene, integrated from 10 sources (see all 77):
    (articles sorted by number of sources associating them with SF3A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian splicing factor SF3a120 represents a new member of the SURP family of proteins and is homologous to the essential splicing factor PRP21p of Saccharomyces cerevisiae. (PubMed id 7489498)1, 2, 3, 9 Kraemer A.... Bilbe G. (RNA 1995)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Solution structures of the SURP domains and the subunit-assembly mechanism within the splicing factor SF3a complex in 17S U2 snRNP. (PubMed id 17098193)1, 2 Kuwasako K.... Yokoyama S. (Structure 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. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    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. Functional association of U2 snRNP with the ATP-independent spliceosomal complex E. (PubMed id 10882114)1, 2 Das R.... Reed R. (Mol. Cell 2000)
    10. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)

    (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: 10291 HGNC: 10765 AceView: SF3A1 Ensembl:ENSG00000099995 euGenes: HUgn10291
    ECgene: SF3A1 Kegg: 10291 H-InvDB: SF3A1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for SF3A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SF3A1 gene:
    Search GeneIP for patents involving SF3A1

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



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