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UBE3A Gene

protein-coding   GIFtS: 73

GC15M025582
ubiquitin protein ligase E3A
(Previous name: human papilloma virus E6-associated protein )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: EPVE6AP, HPVE6A)
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Aliases &
Descriptions
for UBE3A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

  User Feedback
Aliases & Descriptions
ubiquitin protein ligase E3A1 2     Human papillomavirus E6-associated protein2 3
ANCR1 2 5     HPVE6A2 3
FLJ269811 2     EPVE6AP2 3
human papilloma virus E6-associated protein1 2     E6AP ubiquitin-protein ligase2 3
E6-AP1 2     CTCL tumor antigen se37-22
AS1 2     ubiquitin-protein ligase E3A2
Oncogenic protein-associated protein E6-AP2 3     EC 6.3.2.-3
Renal carcinoma antigen NY-REN-542 3     E6AP3

External Ids:    HGNC: 124961   Entrez Gene: 73372   Ensembl: ENSG000001140627   UniProtKB: Q050863   

Search outside databases for aliases for UBE3A gene

Previous GC identifers: GC15M021711 GC15M018295 GC15M023000 GC15M023129 GC15M023133

Summaries
for UBE3A gene

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

  User Feedback		 Entrez Gene summary for UBE3A:
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene
is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this
gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia,
epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human
papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing
of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional
transcript variants have been described, but their full length nature has not been determined. (provided by RefSeq)

UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086
Function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a
thioester and transfers it to its substrates. Several substrates have been identified including the RAD23A and RAD23B,
MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator
CDKN1B. Additionnally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the
cytoplasmic misfolded proteins. Finally, UBE3A also promotes its own degradation in vivo

Gene Wiki entry for UBE3A

Genomic Views
for UBE3A gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the UBE3A gene upstream (promoter) region "":
AP-1   c-Fos   c-Jun   YY1   MEF-2A   E4BP4   GATA-1   GATA-2   LCR-F1   GATA-3   

Epigenetics:
"" Search SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for UBE3A ""

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

Entrez Gene cytogenetic band: 15q11-q13   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11-q13

UBE3A Gene in genomic location: bands according to Ensembl, locations according to "" (and/or Entrez Gene and/or Ensembl if different)
""

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M025582:  view genomic region     (about GC identifiers)

Start:
 25,582,396 bp from pter
End:
 25,684,128 bp from pter
Size:
 101,733 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000015.9  NT_026446.14  

Proteins
for UBE3A gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086 (See protein sequence)
Recommended Name: Ubiquitin-protein ligase E3A  
Size: 875 amino acids; 100688 Da
Subunit: Binds UBQLN1 and UBQLN2. Interacts with the 26S proteasome. Interacts with HCV core protein and targets it to
degradation. Interacts with the E6 protein of the cancer-associated human papillomavirus types 16 and 18. The E6/E6-AP
complex binds to and targets the p53/TP53 tumor-suppressor protein for ubiquitin-mediated proteolysis
Subcellular location: Nucleus (Probable)
Miscellaneous: A cysteine residue is required for ubiquitin-thioester formation
Sequence caution: Sequence=AAA35542.1; Type=Erroneous initiation;
PDB structures from "" and Proteopedia "" :
1C4Z (3D) ""    1D5F (3D) ""    1EQX (3D) ""    2KR1 (3D) ""    
Secondary accessions: A8K8Z9 P78355 Q93066 Q9UEP4 Q9UEP5 Q9UEP6 Q9UEP7 Q9UEP8 Q9UEP9
Alternative splicing: 3 isoforms:  Q05086-1   Q05086-2   Q05086-3   

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (3 alternative transcripts): 
    NP_000453.2  NP_570853.1  NP_570854.1  


    ENSEMBL proteins: 
    ENSP00000348850 ENSP00000401265 ENSP00000411258 ENSP00000381045 ENSP00000232165 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    "" Browse R&D Systems for human recombinant proteins
    ""Enzo Life Sciences proteins for UBE3A
    ""HuPro® and/or Recombinant Proteins from Abnova for UBE3A ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Novus Biologicals Proteins for UBE3A  ""
    Novus Biologicals Lysate for UBE3A
    ""Browse Sino Biological Recombinant Proteins  ""

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502 proteasome complex IEA--
    GO:0005622 intracellular IEA--
    GO:0005634 nucleus IEA--
    GO:0005829 cytosol IEA--
    About this table

    "" UBE3A for ontologies           About GeneDecksing



    Antibodies for UBE3A: 
    ""Millipore Mono- and Polyclonal Antibodies for the study of UBE3A
    ""Sigma-Aldrich Antibodies for UBE3A
    "" Browse R&D Systems for Antibodies
    ""Monoclonal and Polyclonal Antibodies from Abnova (UBE3A)
    ""Browse Origene Antibodies ""
    ""Novus Biologicals Antibodies for UBE3A
    ""Browse antibodies at Epitomics

    Assays for UBE3A: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Enzo Life Sciences assays for UBE3A

    Protein Domains/
    Families
    for UBE3A gene

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

      User Feedback
    "" UBE3A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR017134 Ubiquitin-protein_ligase_E6-AP
     IPR000569 HECT

    Graphical View of Domain Structure for InterPro Entry Q05086

    ProtoNet protein and cluster: Q05086

    1 Blocks protein family: IPB000569 HECT domain (Ubiquitin-protein ligase)

    UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain

    Gene Function
    for UBE3A gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (UBE3A)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 3): UBE3A
    Origene shRNA RFP (see all 3): UBE3A
    Origene basic RS shRNA (see all 3): UBE3A

    ""Applied Biosystems Silencer® siRNAs for UBE3A
    ""Sigma-Aldrich siRNA Panels and siRNA for UBE3A
    Sigma-Aldrich shRNA Panels and shRNA for UBE3A
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 3): UBE3A
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): UBE3A
    Origene untagged cDNA clones in CMV expression vector (see all 3): UBE3A
    ""Sino Biological Human cDNA Clone for UBE3A  ""

    UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086
    Function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a
    thioester and transfers it to its substrates. Several substrates have been identified including the RAD23A and RAD23B,
    MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator
    CDKN1B. Additionnally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the
    cytoplasmic misfolded proteins. Finally, UBE3A also promotes its own degradation in vivo
    Enzyme Number (IUBMB): EC 6.3.2.- 

    Genatlas biochemistry entry for UBE3A:
    ubiquitin protein ligase E3A,recognin,mediating the interaction of the human papilloma virus E6 oncoprotein with TP53
    nuclear hormone coactivator receptors,paternally imprinted in brain,mutated in Angelman syndrome,homologous to
    Drosophila bendless,Dres32,mouse homolog,expressed at high levels in all embryonic structures,playing a major role in
    neural development,involved in the degradation of short-lived and abnormal proteins

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713 transcription coactivator activity ----
    GO:0004842 ubiquitin-protein ligase activity IEA--
    GO:0005515 protein binding IPI12207887 16493710
    GO:0016874 ligase activity IEA--
    GO:0016881 acid-amino acid ligase activity IEA--
    About this table

    "" UBE3A for ontologies           About GeneDecksing

    Animal Models: 7 MGI mutant phenotypes (inferred from 5 alleles"") (MGI details for Ube3a):

    behavior/neurologicalcellularendocrine/exocrine glandgrowth/sizelethality-postnatal
    nervous systemreproductive system

    "" UBE3A for phenotypes           About GeneDecksing

    Pathways & Interactions
    for UBE3A gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" UBE3A for pathways           About GeneDecksing

    1 "" Millipore Pathway for UBE3A
      ""  Common schema of ubiquitination

    1 "" Sigma-Aldrich "Your Favorite Gene" Pathway for  UBE3A  (Your Favorite Gene powered by Ingenuity)
      ""  Protein Ubiquitination Pathway

    4 "" GeneAssist Pathways for UBE3A
      ""  Estrogen Pathway
    SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis
    RAR-Gamma-RXR-Alpha Degradation

    1 "" Kegg Pathway  (Kegg details for UBE3A):
      ""  hsa04120 Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086
    Pathway: Protein modification; protein ubiquitination

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBE3A

    5/67 Interacting proteins for UBE3A (ENSP000002321653 Q050861, 2) via UniProtKB, MINT, and/or STRING (see all 67 ) ""

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 2STRING: ENSP00000269305 EBI-954357,EBI-366083 MINT-6628330 EBI-954357,EBI-366083 MINT-6628330
    BAK1Q166112MINT-69611 MINT-69608
    EAPPQ56P032MINT-2874650
    PHF17Q6IE812MINT-2876576
    RARAP102762MINT-2862542
    About this table

    5/12 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 12 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541 ovarian follicle development ----
    GO:0006464 protein modification process IEA--
    GO:0006508 proteolysis TAS8221889
    GO:0006511 ubiquitin-dependent protein catabolic process TAS8221889
    GO:0007420 brain development TAS8988171
    About this table

    "" UBE3A for ontologies           About GeneDecksing


    Drugs & Compounds
    for UBE3A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" UBE3A for compounds           About GeneDecksing

    "" Enzo Life Sciences drugs & compounds for UBE3A
    ""Browse Small Molecules at Sigma-Aldrich

    "" Browse Tocris compounds for UBE3A
    10/25 ""Novoseek chemical compound relationships for UBE3A gene (see all 25 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    4-(ethoxymethyl)phenol 3.19 1 12732288 (1)
    carboxy 2.19 3 18805400 (1), 17166906 (1), 15288542 (1)
    glutamine 1.30 7 18201976 (6), 19233847 (1)
    cysteine 1.16 8 9990509 (1), 7800044 (1), 7708685 (1), 16341092 (1) (see all 8)
    mitomycin 0.70 1 12944990 (1)
    p 105 0.67 1 8550577 (1)
    clofibrate 0.52 1 19107217 (1)
    isoleucine 0.40 1 9585605 (1)
    leucine 0.35 3 12771374 (1), 12620801 (1), 10623743 (1)
    benzodiazepine 0.34 2 12672542 (1), 11198279 (1)
    About this table


    Transcripts
    for UBE3A gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (UBE3A)
    ""Applied Biosystems Silencer® siRNAs:  NM_000462  NM_130838  NM_130839  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 3): UBE3A
    Origene shRNA RFP (see all 3): UBE3A
    Origene basic RS shRNA (see all 3): UBE3A

    ""Sigma-Aldrich siRNA Panels and siRNA for UBE3A
    Sigma-Aldrich shRNA Panels and shRNA for UBE3A
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""Search SABiosciences for microRNAs that regulate UBE3A: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_000462  NM_130838  NM_130839  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 3): UBE3A
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): UBE3A
    Origene untagged cDNA clones in CMV expression vector (see all 3): UBE3A
    Primers:"" Origene genome-wide validated SYBR primer pairs: UBE3A
    ""SABiosciences RT2 qPCR Primer Assay for UBE3A: PPH00933A ""

    REFSEQ mRNAs for UBE3A gene (3 alternative transcripts): 

    NM_000462.2  NM_130838.1  NM_130839.1  

    Additional cDNA sequence: 

    AB194232.1 AF002224.1 AF002225.1 AF037219.1 AF273050.1 AK026293.1 AK056239.1 AK130491.1 
    AK291405.1 AK292514.1 AL049363.1 AL831842.1 BC002582.2 BC009271.1 L07557.1 U84404.1 
    X98031.1 X98032.1 X98033.1 

    24/27 DOTS entries (see all 27 ):

    DT.95130430  DT.75193435  DT.100039604  DT.91780874  DT.95128484  DT.97811226  DT.121035864  DT.95113709 
    DT.91723398  DT.91780860  DT.121035674  DT.121035519  DT.121035651  DT.121035785  DT.121035817  DT.75142239 
    DT.91780807  DT.92004819  DT.100031879  DT.121035667  DT.121130034  DT.205633  DT.95130426  DT.95130433 

    24/481 AceView cDNA sequences (see all 481 ):

    BE891281 AI492316 AA461468 BU618881 BQ011516 NM_130839 AF273050 AK130491 
    AI684295 AI167392 AA463734 BC002582 D61475 AA487352 BF001468 AA360656 
    AW134901 X98032 AA812177 AA890419 BG054745 AI762145 BX495512 CD251843 

    "" highest scoring ESTs for UBE3A:

    AF002224 AI261795 U84404 AA113896 AA576441 AA628032 AA878941 AA994920 AI056465 AI151486 

    Unigene Cluster for UBE3A:

    Ubiquitin protein ligase E3A
    Hs.598862  [show with all ESTs]
    Unigene Representative Sequence: NM_130839


    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for UBE3A (see all 12 )

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

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

    About this scheme

    ECgene alternative splicing isoforms for UBE3A

    5 Ensembl transcripts including schematic representations:
    ENST00000356465  ENST00000428984  ENST00000438097  ENST00000397954  ENST00000232165  

    Expression
    for UBE3A gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    UBE3A expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for UBE3A

    1""  / 2""  / 3""

    17 probe-sets matching UBE3A gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    1725_s_at2, 3 U95-A 2 1.00 0.97 0.90 0.84 HG884-HT884 0.20 1.00 0.72 1
    1194_g_at2, 3 U95-A 1 0.94 1.00 0.86 0.47 AF002224 1.00 1.00 1.00 1
    78423_r_at2, 3 U95-E 1 0.75 1.00 0.41 1.41 AI261795 1.00 1.00 1.00 1
    1193_at2, 3 U95-A 1 0.75 1.00 0.58 0.34 AF002224 1.00 1.00 1.00 1
    41205_at2, 3 U95-A 1 0.50 1.00 0.71 1.32 U84404 1.00 1.00 1.00 1
    211285_s_at2, 3 U133-A 1 1.00 1.00 -- -- U84404 1.00 1.00 1.00 1
    213291_s_at2, 3 U133-A 1 0.73 1.00 -- -- AA160522 0.60 1.00 0.82 1
    211575_s_at2 U133-A 1 0.64 1.00 -- -- -- -- -- -- --
    212278_x_at2, 3 U133-A 1 0.64 1.00 -- -- BF588511 0.80 1.00 0.91 1
    213128_s_at2, 3 U133-A 1 0.55 1.00 -- -- AA527499 0.60 1.00 0.82 1
    214980_at*2, 3 U133-A 1 0.27 1.00 -- -- AF037219 0.40 1.00 0.76 1
    211285_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    213291_s_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
    211575_s_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
    212278_x_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
    213128_s_at2 U133Plus2 1 0.55 1.00 -- -- -- -- -- -- --
    214980_at*2 U133Plus2 1 0.27 1.00 -- -- -- -- -- -- --
    About this table

    "" UBE3A for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CTGTAAAACA

    SOURCE GeneReport for Unigene cluster: Hs.598862

    Expression variation in blood from EXPOLDB for UBE3A

    Primers:"" Origene genome-wide validated SYBR primer pairs: UBE3A ""
    ""SABiosciences RT2 qPCR Primer Assay for UBE3A: PPH00933A ""

    Orthologs
    for UBE3A gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for UBE3A gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 UBE3A1   -- ubiquitin protein ligase E3A 95.98(n)
    98.74(a)    		 479010  XM_843147.1  XP_848240.1 
    chimpanzee
    (Pan troglodytes)    		 UBE3A1   -- ubiquitin protein ligase E3A 99.92(n)
    100(a)    		 453269  XM_001161311.1  XP_001161311.1 
    cow
    (Bos taurus)    		 UBE3A1   -- ubiquitin protein ligase E3A 94.91(n)
    97.24(a)    		 533136  XM_612444.3  XP_612444.3 
    rat
    (Rattus norvegicus)    		 Ube3a1   -- ubiquitin protein ligase E3A 93.07(n)
    96.69(a)    		 361585  XM_341867.3  XP_341868.3 
    mouse
    (Mus musculus)    		 Ube3a1, 5 7 (28.65 cM)5
    		 ubiquitin protein ligase E3A1, 5 93.56(n)1
    96.2(a)1    		 222151  NM_011668.21  NP_035798.21 
     AI4491145  AK0069575  (see all 25)
    About this table        Species with no ortholog for UBE3A

    ENSEMBL Gene Tree for UBE3A

    Paralogs
    for UBE3A gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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    Paralogs for UBE3A gene
    HERC12  HECTD22  HERC22  HECTD32  HERC32  RCCD12  HERC62  HERC42  
    LOC4402482  HERC52  

    "" UBE3A for paralogs           About GeneDecksing


    Genomic Variants
    for UBE3A gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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    10/677 NCBI SNPs in UBE3A are shown (see all 677 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 160)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs10419331,2
    		C,F,O,A,H3779234(-) TTTTAA/GTCAGT 2 -- ng51 int1""12Minor allele frequency- G:0.46NA NS EA WA 654""
    ""
    rs22572521,2
    		C,F,A,H3810271(+) ACTTAG/TAGGTA 1 -- ng51""8Minor allele frequency- T:0.28NS EA NA WA 548""
    ""
    rs25260251,2
    		C,F,A,H3809975(+) GAAGAC/ATTTAA 1 -- ng51""12Minor allele frequency- A:0.31NS EA NA WA 736""
    ""
    rs350305521,2
    		C,F,H3776224(+) AAAAGC/TTAAAT 3 -- int1 ng51""2Minor allele frequency- T:0.03NA 94""
    ""
    rs64209571,2
    		C,F,H3776032(+) TCTCTT/CATGTA 3 -- int1 ng51""12Minor allele frequency- C:0.06NS EA NA WA 616""
    ""
    rs171155671,2
    		C,F3779411(+) GATAGA/GGCAAT 2 -- ng51 int1""13Minor allele frequency- G:0.22NA NS EA 1140""
    --
    rs171154821,2
    		C,F25582580(+) CCCATG/TTTACC 3 -- ut31""1Minor allele frequency- T:0.06MN 184""
    ""
    rs81791871,2
    		C,F3776811(+) CATTTT/GTGAAA 3 -- int1 ng51""13Minor allele frequency- G:0.18NS EA NA 1142""
    --
    rs726977991,2
    		C,F3810405(+) TTTTAG/CCTAGA 1 -- ng51""2Minor allele frequency- C:0.08NA WA 122""
    ""
    rs361174121,2
    		C,F3706675(+) CAAGCT/CAGAGC 3 -- ng31""3Minor allele frequency- C:0.14NA WA 124""
    About this table

    HapMap Linkage Disequilibrium images for UBE3A (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 1 variation for UBE3A
         1 CNV: 7051

    Disorders & Mutations
    for UBE3A gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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    "" UBE3A for disorders           About GeneDecksing

    OMIM: 601623   disorders: 105830  

    UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086

  • Defects in UBE3A are a cause of Angelman syndrome (AS) [MIM:105830]; also known as 'happy puppet syndrome'. AS
    • is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb
    movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech,
    frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large
    mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an
    occipital groove

    10/74 ""Novoseek disease relationships for UBE3A gene (see all 74 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    angelman syndrome 100.00 207 8988172 (6), 9891052 (5), 15054837 (5), 14981718 (5) (see all 100)
    disomies, uniparental 54.35 28 9546330 (2), 16053909 (2), 9887341 (1), 9601023 (1) (see all 26)
    pws 21.36 17 12210318 (2), 9601023 (1), 8004100 (1), 19894069 (1) (see all 16)
    human papillomavirus 18.00 15 19700180 (2), 15784893 (2), 10400710 (2), 9891052 (1) (see all 12)
    neurodevelopmental disorder 10.96 7 20351251 (1), 20211128 (1), 18996915 (1), 16740422 (1) (see all 7)
    rett syndrome 9.95 9 16754645 (2), 15757975 (2), 17980307 (1), 17936729 (1) (see all 7)
    cervical cancer 7.68 17 10726657 (3), 19194825 (2), 10974372 (2), 9053858 (1) (see all 13)
    absence, atypical 3.66 2 16162432 (2)
    chromosome 15 uniparental disomy 3.19 1 17347796 (1)
    growth suppression 2.70 5 15994823 (3), 10400982 (2)
    About this table

    1 PharmGKB disease relationship for UBE3A gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Autistic DisorderGN  10089011
    About this table

    GeneTests: UBE3A
    Angelman Syndrome

    Locus Specific Mutation Databases: UBE3A
    Human Gene Mutation Database: UBE3A
    Genetic Association Database: UBE3A
    Human Genome Epidemiology Navigator: UBE3A (6 documents)

    Medical News
    for UBE3A gene

    (Possibly Related Articles in Doctor's Guide)
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    Publications
    for UBE3A gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

      User Feedback    		10/257 PubMed articles for UBE3A gene (see all 257 ):

    Search for UBE3A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing UBE3A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7337 HGNC: 12496 AceView: UBE3A Ensembl:ENSG00000114062 euGenes: HUgn7337
    ECgene: UBE3A Kegg: 7337 H-InvDB: UBE3A

    Other Databases showing UBE3A gene

    (According to HUGE)
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    Specialized Databases showing UBE3A gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    ATLAS Chromosomes in Cancer entry for UBE3A Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UBE3A

    Intellectual Property
    for UBE3A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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      User Feedback    		Patent Information for UBE3A gene: ""
    Search GeneIP for patents involving UBE3A

    GeneCards and IP: ""
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    Services
    for UBE3A gene

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    Products for UBE3A:
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    """"""""
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    "" Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
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