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

U2AF1 Gene

protein-coding   GIFtS: 61
GCID: GC21M044513

U2 small nuclear RNA auxiliary factor 1

(Previous names: U2(RNU2) small nuclear RNA auxiliary factor binding protein,...)
(Previous symbol: U2AFBP)
 Explore 13 diseases affiliated with
U2AF1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for U2AF1    

Aliases
for U2AF1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
Aliases
U2 Small Nuclear RNA Auxiliary Factor 11 2 3     Human U2 SnRNP Auxiliary Factor Small Subunit11
U2AF351 2 3     FP7932
U2AFBP1 2 3     Splicing Factor U2AF 35 KDa Subunit2
RN1 2     Splicing Factor U2AF 35kDa Subunit2
RNU2AF11 2     U2 Small Nuclear Ribonucleoprotein Auxillary Factor, 35-KD Subunit2
U2(RNU2) Small Nuclear RNA Auxiliary Factor Binding Protein1 2     U2 Small Nuclear RNA Auxillary Factor 12
U2 SnRNP Auxiliary Factor Small Subunit2 3     U2 Auxiliary Factor 35 KDa Subunit3
U2(RNU2) Small Nuclear RNA Auxiliary Factor 11     

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

Export aliases for U2AF1 gene to outside databases

Previous GC identifers: GC21M041060 GC21M043407 GC21M043386 GC21M029931


Summaries
for U2AF1 gene

(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 U2AF1:
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)

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)


Genomic Views
for U2AF1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
Regulatory elements:
   SABiosciences 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 plasmid: U2AF1 promoter sequence

   Search SABiosciences Chromatin IP Primers for U2AF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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


Proteins
for U2AF1 gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q01081

    • U2AF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Uscn Proteins for U2AF1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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



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    Protein Domains /
    Families
    for U2AF1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    U2AF1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q01081

    ProtoNet protein and cluster: Q01081

    3 Blocks protein families:
    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


    Function
    for U2AF1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0050733RS domain binding IEA--


    U2AF1 for ontologies           About GeneDecksing


    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 


    Pathways & Interactions
    for U2AF1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    		mRNA Splicing1.00
    		mRNA Processing0.82
    		mRNA Splicing - Major Pathway1.00
    		mRNA processing0.48
    		Processing of Capped Intron-Containing Pre-mRNA0.96
    		Spliceosome0.31
    2RNA Polymerase II Transcription Termination
    		RNA Polymerase II Transcription Termination1.00
    		Post-Elongation Processing of Intron-Containing pre-mRNA0.79
    		Post-Elongation Processing of the Transcript1.00
    		mRNA 3'-end processing0.79
    		Cleavage of Growing Transcript in the Termination Region 1.00
    3Transcription
    		Transcription1.00
    		RNA Polymerase II Transcription0.69
    4Transport of Mature Transcript to Cytoplasm
    		Transport of Mature Transcript to Cytoplasm1.00
    		Transport of Mature mRNA derived from an Intron-Containing Transcript0.85
    5Shigellosis
    		Shigellosis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for U2AF1 
        mRNA processing

    5/14        Reactome Pathways for U2AF1 (see all 14)
        Transport of Mature mRNA derived from an Intron-Containing Transcript
    mRNA Splicing - Major Pathway
    Transport of Mature Transcript to Cytoplasm
    mRNA Splicing
    RNA Polymerase II Transcription


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


    U2AF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for U2AF1

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

    5/823 Interacting proteins for U2AF1 (Q010811, 2, 3 ENSP000002915524) via UniProtKB, MINT, STRING, and/or I2D (see all 823)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    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-1053464,EBI-627102 I2D: score=2 STRING: ENSP00000339723
    U2AF2P263681, 2, 3, ENSP000003078634EBI-1053464,EBI-946034 MINT-7945693 MINT-8334131 MINT-7947479 I2D: score=16 STRING: ENSP00000307863
    SF3B2Q134352, ENSP000003188614MINT-7945693 MINT-8332537 MINT-8333526 MINT-7947479 STRING: ENSP00000318861
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for U2AF1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for U2AF1
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    Transcripts
    for U2AF1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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 cDNA 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 

    24/333 AceView cDNA sequences (see all 333):

    AI418754 BX331525 CB068409 BM451145 CB122774 BX353462 AI762575 BG393840 
    BM827141 AI804650 AJ003537 BQ003552 BE043061 BM835775 BC032521 AU117277 
    AJ627978 CA436084 BM802603 CB121342 BI089424 BU786275 CB157036 AI358523 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for U2AF1 gene

    (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

    U2AF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCATTTTTAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See U2AF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for U2AF1

    SOURCE GeneReport for Unigene cluster: Hs.365116
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    In Situ
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    Orthologs
    for U2AF1 gene

    (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 U2AF1 gene from 8/36 species (see all 36)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves U2AF11 U2 small nuclear RNA auxiliary factor 1 86.92(n)
    100(a)    		   395370  NM_204655.2  NP_989986.2 
    lizard
    (Anolis carolinensis)    		 Reptilia U2AF16
    		 --
    		 99(a)
    		 1 ↔ 1
    		 3(137175238-137192123)
    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 U2af381 , 3 mRNA splicing RNA binding3
    U2 small nuclear riboprotein auxiliary factor 381    		 82(a)3
    68.52(n)1
    79.49(a)1    		   2 21B83
    332011  NM_057860.31  NP_477208.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y116A8C.353
    uaf-21    		 Protein UAF-21 67(a)3
    62.7(n)1
    64.32(a)1    		   IV(17117043-17118699)3
    1784891  NM_070635.21  NP_503036.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATU2AF35A1 splicing factor U2af small subunit A 58.04(n)
    57.59(a)    		   839657  NM_102530.3  NP_174086.1 
    rice
    (Oryza sativa)    		 Liliopsida Os05g05642001 hypothetical protein 58.23(n)
    59.07(a)    		   4339621  NM_001062866.1  NP_001056331.1 


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

    Paralogs
    for U2AF1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for U2AF1 gene
    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



    Genomic Variants
    for U2AF1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/284 NCBI SNPs in U2AF1 are shown (see all 284)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1421771581,2
    		--44512577(+) TGCACC/TGCAGG 3 -- ds50010--------
    rs1180967901,2
    		--44512663(+) ATCCAC/TGCTCC 3 -- ds50011Minor allele frequency- T:0.01EA 120
    rs1919939351,2
    		--44512664(+) TCCACA/GCTCCC 3 -- ds50010--------
    rs1397672961,2
    		--44512675(+) TCCCAC/TGAACA 3 -- ds50010--------
    rs1431245171,2
    		--44512676(+) CCCACA/GAACAC 3 -- ds50010--------
    rs1158756161,2
    		--44512704(+) AACTCG/ACAGGA 3 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1852974951,2
    		--44512711(+) AGGAAC/TGAGAA 3 -- ds50010--------
    rs1176272581,2
    		F,--44512726(+) ACATGG/AGTCGG 3 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1145220991,2
    		F,--44512762(+) ATCAGC/TCTTCT 3 -- ds50011Minor allele frequency- T:0.04WA 118
    rs778929061,2
    		F,--44512807(+) GATTAT/CAGCTA 3 -- ds50011Minor allele frequency- C:0.02EA 120

    HapMap Linkage Disequilibrium report for U2AF1 (44513066 - 44527697 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for U2AF1: --

    4 SABiosciences Cancer Mutation PCR Assays for U2AF1:
    Cosmic IdAA Change
    98000033S34F
    98000032Q157R
    98000034S34Y
    98000031Q157P
    1 SABiosciences Cancer Mutation PCR Array containing U2AF1:
    Myelodysplastic Syndromes
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing U2AF1
    DNA2.0 Custom Variant and Variant Library Synthesis for U2AF1

    Disorders / Diseases
    for U2AF1 gene

    (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.)
    About This Section
    U2AF1 for disorders           About GeneDecksing

    OMIM gene information: 191317    OMIM disorders: --

    13 diseases for U2AF1:    About MalaCards
    myoclonus epilepsy    progressive myoclonus epilepsy    treacher collins syndrome    myoclonus
    retinitis pigmentosa    intrahepatic cholangiocarcinoma    shigellosis    cholangiocarcinoma
    retinitis    pancreatic carcinoma    pancreatitis    carcinoma
    malaria

    Human Genome Epidemiology (HuGE) Navigator: U2AF1 (1 document)

    Export disorders for U2AF1 gene to outside databases

    Publications
    for U2AF1 gene

    (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 U2AF1 gene, integrated from 9 sources (see all 92):
    (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. (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. (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. (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. (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. (2001)
    6. 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. (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. ZNF265 -- a novel spliceosomal protein able to induce alternative splicing. (PubMed id 11448987)1, 2 Adams D.J....Rasko J.E.J. (2001)
    9. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    10. Comparative mapping of the imprinted U2afbpL gene on mouse chromosome 11 and human chromosome 5. (PubMed id 7956352)1, 3 Kalcheva I....Takagi N. (1995)

    External Searches for U2AF1 gene

    (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)

    Genome Databases showing U2AF1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7307 HGNC: 12453 AceView: U2AF1 Ensembl:ENSG00000160201 euGenes: HUgn7307
    ECgene: U2AF1 Kegg: 7307 H-InvDB: U2AF1

    Other Databases showing U2AF1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing U2AF1 gene

    (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 U2AF1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for U2AF1 gene

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