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U2AF1 Gene

protein-coding   GIFtS: 65
GCID: GC21M044513

U2 Small Nuclear RNA Auxiliary Factor 1

(Previous names: U2(RNU2) small nuclear RNA auxiliary factor binding protein,...)
(Previous symbol: U2AFBP)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
U2 Small Nuclear RNA Auxiliary Factor 11 2 3     RN2
U2AFBP1 2 3     RNU2AF12
U2(RNU2) Small Nuclear RNA Auxiliary Factor Binding Protein1 2     Splicing Factor U2AF 35 KDa Subunit2
U2AF352 3     Splicing Factor U2AF 35kDa Subunit2
U2 SnRNP Auxiliary Factor Small Subunit2 3     U2 Small Nuclear Ribonucleoprotein Auxillary Factor, 35-KD Subunit2
U2(RNU2) Small Nuclear RNA Auxiliary Factor 11     U2 Small Nuclear RNA Auxillary Factor 12
Human U2 SnRNP Auxiliary Factor Small Subunit11     U2 Auxiliary Factor 35 KDa Subunit3
FP7932     

External Ids:    HGNC: 124531   Entrez Gene: 73072   Ensembl: ENSG000001602017   OMIM: 1913175   UniProtKB: Q010813   
ORGUL members:         

Export aliases for U2AF1 gene to outside databases

Previous GC identifers: GC21M041060 GC21M043407 GC21M043386 GC21M029931


(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 U2AF1 Gene:
This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small
subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene
encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by
directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively
spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for U2AF1 Gene:
U2AF1 (U2 small nuclear RNA auxiliary factor 1) is a protein-coding gene. Diseases associated with U2AF1 include myoclonus epilepsy, and progressive myoclonus epilepsy. GO annotations related to this gene include RS domain binding and RNA binding. An important paralog of this gene is ENSG00000267120.

UniProtKB/Swiss-Prot: U2AF1_HUMAN, Q01081
Function: Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein
interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to
the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may
function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron

Gene Wiki entry for U2AF1 (U2 small nuclear RNA auxiliary factor 1) 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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the U2AF1 gene promoter:
         SRF   AREB6   HSF2   SRF (504 AA)   Msx-1   Cdc5   LyF-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidU2AF1 promoter sequence

   Search Chromatin IP Primers for U2AF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat U2AF1


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
U2AF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
U2AF1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M044513:   GeneLoc Nature:405,311-319
Start:
44,513,066 bp from pter       30,060,393 bp from centromere
End:
44,527,697 bp from pter 30,074,960 bp from centromere
Size:
14,632 bases 14,568 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: M96982
genomic clones: KB2007G4


(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: U2AF1_HUMAN, Q01081 (See protein sequence)
Recommended Name: Splicing factor U2AF 35 kDa subunit  
Size: 240 amino acids; 27872 Da
Subunit: Interacts (via RS domain) with PHF5A (via N-terminus) (By similarity). Identified in the spliceosome C
complex. Heterodimer with U2AF2. Interacts with ZRANB2
1 PDB 3D structure from and Proteopedia for U2AF1:
1JMT (3D)    
Secondary accessions: Q701P4 Q71RF1
Alternative splicing: 4 isoforms:  Q01081-1   Q01081-2   Q01081-3   Q01081-4   (Produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for U2AF1: NX_Q01081

Explore proteomics data for U2AF1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys13, Lys175
  • Modification sites at PhosphoSitePlus

  • See U2AF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001020374.1  NP_001020375.1  NP_006749.1  

    ENSEMBL proteins: 
     ENSP00000418705   ENSP00000420672   ENSP00000369629   ENSP00000291552   ENSP00000381205  
    Reactome Protein details: Q01081

    U2AF1 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    4 InterPro protein domains:
     IPR000571 Znf_CCCH
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom
     IPR009145 U2_small

    Graphical View of Domain Structure for InterPro Entry Q01081

    ProtoNet protein and cluster: Q01081

    3 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB000571 Zn-finger
    IPB009145 U2 auxiliary factor small subunit signature


    UniProtKB/Swiss-Prot: U2AF1_HUMAN, Q01081
    Domain: The C-terminal SR-rich domain is required for interactions with SR proteins and the splicing regulators
    TRA and TRA2, and the N-terminal domain is required for formation of the U2AF1/U2AF2 heterodimer
    Similarity: Belongs to the splicing factor SR family
    Similarity: Contains 2 C3H1-type zinc fingers
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    U2AF1 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: U2AF1_HUMAN, Q01081
    Function: Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein
    interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to
    the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may
    function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron

         Genatlas biochemistry entry for U2AF1:
    U2 (RNU2) small nuclear RNA auxiliary factor,small subunit,1,35kDa

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI11551507
    GO:0044822poly(A) RNA binding IDA--
         
    U2AF1 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for U2AF1:
     Cell division defect  Decreased number of cells in m  Decreased viability  Decreased viability of wild-ty 
     Increased G2M DNA content  Increased number of mitotic ce  Synthetic lethal with Ras 

    Animal Models:
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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
    U2AF1_HUMAN, Q01081: Nucleus. Nucleus speckle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IDA9731529
    GO:0005730NOT nucleolus IDA--
    GO:0015030Cajal body TAS1388271

    U2AF1 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 U2AF1 About   (see all 7)  
    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
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.80
    mRNA 3-end processing0.80
    Cleavage of Growing Transcript in the Termination Region0.80
    3Transport of Mature Transcript to Cytoplasm
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93
    Transport of Mature Transcript to Cytoplasm0.93
    4Formation of RNA Pol II elongation complex
    RNA Polymerase II Transcription0.60
    5Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for U2AF1
        mRNA processing


    4 Reactome Pathways for U2AF1
        mRNA Splicing - Major Pathway
    Transport of Mature mRNA derived from an Intron-Containing Transcript
    mRNA 3'-end processing
    Cleavage of Growing Transcript in the Termination Region


    2 Kegg Pathways  (Kegg details for U2AF1):
        Spliceosome
    Shigellosis


    U2AF1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for U2AF1
    Interactions:

        GeneGlobe Interaction Network for U2AF1

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

    Selected Interacting proteins for U2AF1 (Q010811, 2, 3 ENSP000002915524) via UniProtKB, MINT, STRING, and/or I2D (see all 863)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3B2Q134351, 2, ENSP000003188614EBI-632461,EBI-749111 MINT-7945693 MINT-8332537 MINT-8333526 MINT-7947479 STRING: ENSP00000318861
    SF3A2Q154282, 3, ENSP000002214944MINT-5205566 MINT-7947479 I2D: score=2 STRING: ENSP00000221494
    SF3B1O755332, 3, ENSP000003353214MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000335321
    CIR1Q86X951, 3, ENSP000003397234EBI-632461,EBI-627102 I2D: score=2 STRING: ENSP00000339723
    SRPK2P783621, 2, ENSP000003772624EBI-632461,EBI-593303 MINT-8334505 STRING: ENSP00000377262
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006397mRNA processing TAS1388271
    GO:0006406mRNA export from nucleus TAS--

    U2AF1 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 U2AF1



    (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,
    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 U2AF1 gene (3 alternative transcripts): 
    NM_001025203.1  NM_001025204.1  NM_006758.2  

    Unigene Cluster for U2AF1:

    U2 small nuclear RNA auxiliary factor 1
    Hs.365116  [show with all ESTs]
    Unigene Representative Sequence: BM916584
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471250 ENST00000478282(uc010gpi.1) ENST00000459639(uc002zcy.1)
    ENST00000464750 ENST00000475639 ENST00000380276 ENST00000291552(uc002zdb.1)
    ENST00000486519 ENST00000463599 ENST00000496462(uc002zdc.1) ENST00000468039
    ENST00000398137(uc002zcz.1 uc002zda.1)
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    Additional mRNA sequence: 

    AB451244.1 AJ627978.1 AK307560.1 BC001177.1 BC001923.1 BC005915.1 M96982.1 

    18 DOTS entries:

    DT.446719  DT.97859339  DT.446720  DT.97769413  DT.65285770  DT.121140803  DT.97859340  DT.100814480 
    DT.100888233  DT.121140765  DT.91770412  DT.97783922  DT.102831722  DT.91755804  DT.95246274  DT.95276156 
    DT.100702294  DT.91770413 

    Selected AceView cDNA sequences (see all 333):

    AA306069 CB110112 AA580692 AL706157 AU117277 BC032521 AI358523 BM747033 
    BF968650 BU785629 CA436084 AJ003537 BX331525 BQ614372 BU579622 BI870370 
    BQ931580 AL707660 BQ439380 BM505425 AW009580 BM451145 BU786275 AI872005 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for U2AF1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9
    SP1:                          -           -           -                                             
    SP2:                                                                          -                     
    SP3:        -     -           -                                                                     
    SP4:              -           -     -     -                                                         
    SP5:                                                                                                


    ECgene alternative splicing isoforms for U2AF1

    (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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    U2AF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATTTTTAC
    U2AF1 Expression
    About this image


    U2AF1 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)    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
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    U2AF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    U2AF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.365116
        Custom PCR Arrays for U2AF1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for U2AF1

    (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 U2AF1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia U2af15 U2 small nuclear ribonucleoprotein auxiliary factor more   --   17 (17.02 cM) 31647082 
    chicken
    (Gallus gallus)
    Aves U2AF16
    Gallus gallus U2 small nuclear RNA auxiliary facto...
    99(a)
    1 ↔ 1
    1(109065787-109081673)
    lizard
    (Anolis carolinensis)
    Reptilia U2AF16
    U2 small nuclear RNA auxiliary factor 1
    99(a)
    1 ↔ 1
    3(137175238-137194454)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB559564.12   -- 82.11(n)    CB559564.1 
    zebrafish
    (Danio rerio)
    Actinopterygii u2af12 U2(RNU2) small nuclear RNA auxillary factor 1 79.54(n)   192328  AF506202.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta U2af383 mRNA splicing RNA binding 82(a)   2 21B8   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y116A8C.353   -- 67(a)   IV(17117043-17118699)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons U2AF35B1 U2AF35B 58.38(n)
    59.46(a)
      834293  NM_203141.2  NP_974870.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g05642001 Os05g0564200 60.54(n)
    60.54(a)
      4339621  NM_001062866.1  NP_001056331.1 


    ENSEMBL Gene Tree for U2AF1 (if available)
    TreeFam Gene Tree for U2AF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for U2AF1 gene
    LOC102724594  ENSG000002671202  ZRSR22  ZRSR12  U2AF1L42  
    3 SIMAP similar genes for U2AF1 using alignment to 3 protein entries:     U2AF1_HUMAN (see all proteins):
    DKFZp313J1712    U2AF1L4    ZRSR2

    U2AF1 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), 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 U2AF1 (see all 385)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1421771581,2
    --35011887(+) TGCACC/TGCAGG 3 -- ds50010--------
    rs1180967901,2
    F--35011973(+) ATCCAC/TGCTCC 3 -- ds50011Minor allele frequency- T:0.01EA 120
    rs1919939351,2
    --35011974(+) TCCACA/GCTCCC 3 -- ds50010--------
    rs1397672961,2
    C--35011985(+) TCCCAC/TGAACA 3 -- ds50010--------
    rs1431245171,2
    --35011986(+) CCCACA/GAACAC 3 -- ds50010--------
    rs1158756161,2
    F--35012014(+) AACTCG/ACAGGA 3 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1852974951,2
    --35012021(+) AGGAAC/TGAGAA 3 -- ds50010--------
    rs1176272581,2
    C,F--35012036(+) ACATGG/AGTCGG 3 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1145220991,2
    F--35012072(+) ATCAGC/TCTTCT 3 -- ds50011Minor allele frequency- T:0.04WA 118
    rs778929061,2
    F--35012117(+) GATTAT/CAGCTA 3 -- ds50011Minor allele frequency- C:0.02EA 120

    HapMap Linkage Disequilibrium report for U2AF1 (44513066 - 44527697 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for U2AF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666871CNV Deletion23128226
    nsv913828CNV Loss21882294
    nsv510800CNV Loss20534489
    nsv459279CNV Loss19166990
    nsv913812CNV Gain21882294

    4 Site Specific Mutation Identification with PCR Assays for U2AF1:
    Cosmic IdAA Change
    98000033S34F
    98000032Q157R
    98000034S34Y
    98000031Q157P
    1 Site Specific Cancer Mutation PCR Panel containing U2AF1:
    Myelodysplastic Syndromes
    SeqTarget long-range PCR primers for resequencing U2AF1
    DNA2.0 Custom Variant and Variant Library Synthesis for U2AF1

    (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.)
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    OMIM gene information: 191317    OMIM disorders: --

    Selected diseases for U2AF1 (see all 23):    
    About MalaCards
    myoclonus epilepsy    progressive myoclonus epilepsy    myoclonus    treacher collins syndrome
    chronic myelomonocytic leukemia    shigellosis    retinitis pigmentosa    myelodysplastic syndromes
    intrahepatic cholangiocarcinoma    cholangiocarcinoma    herpes simplex    retinitis
    acute myeloid leukemia    tonsillitis    myeloid leukemia    hiv-1
    pancreatitis    thyroiditis    malaria    cerebritis


    U2AF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): U2AF1
    Human Genome Epidemiology (HuGE) Navigator: U2AF1 (1 document)

    Export disorders for U2AF1 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 U2AF1 gene, integrated from 10 sources (see all 108):
    (articles sorted by number of sources associating them with U2AF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing. (PubMed id 8647433)1, 2, 9 Zuo P. and Maniatis T. (Genes Dev. 1996)
    2. Diversity of vertebrate splicing factor U2AF35: identification of alternatively spliced U2AF1 mRNAs. (PubMed id 15096518)1, 2, 9 Pacheco T.R.D.... Carmo-Fonseca M. (J. Biol. Chem. 2004)
    3. Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit. (PubMed id 1388271)1, 2, 9 Zhang M.... Green M.R. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    4. The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3. (PubMed id 8660980)1, 3, 9 Lalioti M.D....Antonarakis S.E. (Genomics 1996)
    5. A novel peptide recognition mode revealed by the X-ray structure of a core U2AF35/U2AF65 heterodimer. (PubMed id 11551507)1, 2, 9 Kielkopf C.L.... Burley S.K. (Cell 2001)
    6. Variants of organic anion transporter polypeptide 2 gene are not risk factors associated with severe neonatal hyperbilirubinemia. (PubMed id 20514852)1, 4 Wong F.L....Wang M.K. (Malays J Pathol 2009)
    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. ZNF265 -- a novel spliceosomal protein able to induce alternative splicing. (PubMed id 11448987)1, 2 Adams D.J....Rasko J.E.J. (J. Cell Biol. 2001)
    10. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 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: 7307 HGNC: 12453 AceView: U2AF1 Ensembl:ENSG00000160201 euGenes: HUgn7307
    ECgene: U2AF1 Kegg: 7307 H-InvDB: U2AF1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for U2AF1 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 U2AF1 gene:
    Search GeneIP for patents involving U2AF1

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



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