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UBE3A Gene

protein-coding   GIFtS: 74
GCID: GC15M025582

Ubiquitin Protein Ligase E3A

(Previous name: human papilloma virus E6-associated protein)
(Previous symbols: EPVE6AP, HPVE6A)
  See UBE3A-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
Ubiquitin Protein Ligase E3A1 2     ANCR2 5
EPVE6AP1 2 3     Angelman Syndrome1
HPVE6A1 2 3     AS2
Human Papilloma Virus E6-Associated Protein1 2     E6-AP2
Human Papillomavirus E6-Associated Protein2 3     CTCL Tumor Antigen Se37-22
Oncogenic Protein-Associated Protein E6-AP2 3     Ubiquitin-Protein Ligase E3A2
Renal Carcinoma Antigen NY-REN-542 3     E6AP3
E6AP Ubiquitin-Protein Ligase2 3     EC 6.3.2.-3

External Ids:    HGNC: 124961   Entrez Gene: 73372   Ensembl: ENSG000001140627   OMIM: 6016235   UniProtKB: Q050863   

Export aliases for UBE3A gene to outside databases

Previous GC identifers: GC15M021711 GC15M018295 GC15M023000 GC15M023129 GC15M023133 GC15M003706


(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 UBE3A Gene:
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, Jul 2008)

GeneCards Summary for UBE3A Gene:
UBE3A (ubiquitin protein ligase E3A) is a protein-coding gene. Diseases associated with UBE3A include papilloma, and ataxic cerebral palsy. GO annotations related to this gene include ubiquitin-protein ligase activity and transcription coactivator activity. An important paralog of this gene is HERC3.

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. Catalyzes the high-risk human papilloma virus E6-mediated ubiquitination of p53/TP53,
contributing to the neoplastic progression of cells infected by these viruses. Additionally, 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 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 at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBE3A gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBE3A promoter sequence
   Search Chromatin IP Primers for UBE3A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBE3A


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

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

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

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

Start:
25,582,381 bp from pter      End:
25,684,175 bp from pter
Size:
101,795 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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. Interacts with BPY2. Interacts with HIF1AN, MAPK6 AND NEURL4; interaction with MAPK6 may be mediated
by NEURL4. Interacts with the proteasomal subunit PSMD4
Miscellaneous: A cysteine residue is required for ubiquitin-thioester formation
Sequence caution: Sequence=AAA35542.1; Type=Erroneous initiation;
5 PDB 3D structures from and Proteopedia for UBE3A:
1C4Z (3D)        1D5F (3D)        1EQX (3D)        2KR1 (3D)        4GIZ (3D)    
Secondary accessions: A8K8Z9 P78355 Q93066 Q9UEP4 Q9UEP5 Q9UEP6 Q9UEP7 Q9UEP8 Q9UEP9
Alternative splicing: 3 isoforms:  Q05086-1   Q05086-2   Q05086-3   

Explore the universe of human proteins at neXtProt for UBE3A: NX_Q05086

Explore proteomics data for UBE3A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys30, Lys71, Lys77, Lys101, Lys123, Lys132, Lys226, Lys323, Lys330, Lys350,
                                 Lys373, Lys421, Lys468, Lys711, Lys724, Lys728, Lys802, Lys822, Lys824, Lys829 (see all 21)
  • Modification sites at PhosphoSitePlus

  • See UBE3A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000232165   ENSP00000457771   ENSP00000381045   ENSP00000401265   ENSP00000473822  
     ENSP00000411258  
    Reactome Protein details: Q05086

    UBE3A Human Recombinant Protein Products:

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    Novus Biologicals UBE3A Proteins
    Novus Biologicals UBE3A Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBE3A

     
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    antibodies-online proteins for UBE3A (5 products) 

     
    antibodies-online peptides for UBE3A

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    antibodies-online antibodies for UBE3A (64 products) 

    UBE3A Assay 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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    2 InterPro protein domains:
     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 domain: IPB000569 HECT domain (Ubiquitin-protein ligase)

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


    Find genes that share domains with UBE3A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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. Catalyzes the high-risk human papilloma virus E6-mediated ubiquitination of p53/TP53,
    contributing to the neoplastic progression of cells infected by these viruses. Additionally, 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

         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

         Enzyme Number (IUBMB): EC 6.3.2.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IEA--
    GO:0004842ubiquitin-protein ligase activity IDA12890688
    GO:0005515protein binding IPI12207887
         
    Find genes that share ontologies with UBE3A           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for UBE3A:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory  Synthetic lethal with imatinib 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ube3a):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     integument  mortality/aging  nervous system  no phenotypic analysis  reproductive system 

    Find genes that share phenotypes with UBE3A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ube3atm1Alb for UBE3A

       genOway: Develop your customized and physiologically relevant rodent model for UBE3A

    miRNA
    Products:
        
    miRTarBase miRNAs that target UBE3A:
    hsa-mir-375 (MIRT019860), hsa-mir-24-3p (MIRT030496)

    Block miRNA regulation of human, mouse, rat UBE3A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBE3A (see all 55):
    hsa-miR-411* hsa-miR-302d hsa-miR-520e hsa-miR-1321 hsa-miR-379* hsa-miR-300 hsa-miR-219-5p hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidUBE3A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UBE3A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): UBE3A (NM_130839)
    Sino Biological Human cDNA Clone for UBE3A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBE3A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBE3A
    Addgene plasmids for UBE3A 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBE3A


    (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
    UBE3A_HUMAN, Q05086: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex IEA--
    GO:0005634nucleus IBA--
    GO:0005737cytoplasm IBA--
    GO:0005829cytosol IEA--

    Find genes that share ontologies with UBE3A           About GenesLikeMe


    (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 UBE3A About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2PEDF Induced Signaling
    RAR-Gamma-RXR-Alpha Degradation0.62
    3GPCR Pathway
    Estrogen Pathway0.55
    4Tryptophan metabolism
    Tryptophan metabolism0.46
    5Inactivation of APC/C via direct inhibition of the APC/C complex
    Common schema of ubiquitination0.33


    Find genes that share SuperPaths with UBE3A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for UBE3A
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis
    Estrogen Pathway
    RAR-Gamma-RXR-Alpha Degradation

    1 Cell Signaling Technology (CST) Pathway for UBE3A
        Protein Stability

    4 BioSystems Pathways for UBE3A
        Androgen receptor signaling pathway
    Regulation of Telomerase
    Coregulation of Androgen receptor activity
    Tryptophan metabolism


    1 Reactome Pathway for UBE3A
        Antigen processing: Ubiquitination & Proteasome degradation


    2 Kegg Pathways  (Kegg details for UBE3A):
        Ubiquitin mediated proteolysis
    Viral carcinogenesis

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

        Pathway & Disease-focused RT2 Profiler PCR Array including UBE3A: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UBE3A

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

    Selected Interacting proteins for UBE3A (Q050861, 2, 3 ENSP000003810454) via UniProtKB, MINT, STRING, and/or I2D (see all 140)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E6Q77E161, 2EBI-954357,EBI-7011359 MINT-6732509 MINT-6732497 MINT-6732471 EBI-954357,EBI-7281937 MINT-73445 MINT-73427 EBI-954357,EBI-1186926 MINT-73441 EBI-954357,EBI-1177232 MINT-6732492 MINT-6732504 MINT-6732485 EBI-954357,EBI-1177242 MINT-73440 MINT-73428 MINT-68730
    TP53P046371, 2, 3, ENSP000002693054EBI-954357,EBI-366083 MINT-6628330 I2D: score=4 STRING: ENSP00000269305
    JADE1Q6IE812, 3, ENSP000002263194MINT-8276472 MINT-2876576 I2D: score=4 STRING: ENSP00000226319
    HBA2P699052, 3, ENSP000002515954MINT-8276413 I2D: score=2 STRING: ENSP00000251595
    BAK1Q166112, 3, ENSP000003635914MINT-69611 MINT-69608 I2D: score=1 STRING: ENSP00000363591
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development IEA--
    GO:0006508proteolysis TAS8221889
    GO:0006511ubiquitin-dependent protein catabolic process TAS8221889
    GO:0007420brain development TAS8988171
    GO:0014068positive regulation of phosphatidylinositol 3-kinase signaling IEA--

    Find genes that share ontologies with UBE3A           About GenesLikeMe



    (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 UBE3A

    4 HMDB Compounds for UBE3A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    Selected Novoseek inferred chemical compound relationships for UBE3A gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hpvs 76.2 5 10864652 (1), 18793139 (1), 19177752 (1), 20167600 (1)
    2-methoxyethanol 24.8 1 10438818 (1)
    lysine 21.3 3 10864652 (1), 11046142 (1), 17433363 (1)
    cysteine 19.4 7 10066826 (1), 7708685 (1), 10864652 (1), 9990509 (1) (see all 7)
    gaba 13.2 4 11543639 (1), 17962046 (1), 14510623 (1)
    atp 0 1 8034027 (1)
    steroid 0 4 18432313 (2), 12732288 (1), 15691896 (1)
    zinc 0 2 10413422 (1), 10400710 (1)
    tyrosine 0 3 10449731 (2), 7478539 (1)
    benzodiazepine 0 1 11198279 (1)



    Find genes that share compounds with UBE3A           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UBE3A gene (3 alternative transcripts): 
    NM_000462.3  NM_130838.1  NM_130839.2  

    Unigene Cluster for UBE3A:

    Ubiquitin protein ligase E3A
    Hs.598862  [show with all ESTs]
    Unigene Representative Sequence: NM_000462
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000232165(uc001zaq.3 uc001zas.3 uc001zat.3 uc001zau.2)
    ENST00000566215 ENST00000397954 ENST00000428984 ENST00000604860 ENST00000438097(uc001zar.3)

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    Selected qRT-PCR Assays for microRNAs that regulate UBE3A (see all 55):
    hsa-miR-411* hsa-miR-302d hsa-miR-520e hsa-miR-1321 hsa-miR-379* hsa-miR-300 hsa-miR-219-5p hsa-miR-138-2*
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    GenScript: all cDNA clones in your preferred vector (see all 3): UBE3A (NM_130839)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBE3A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBE3A
    Addgene plasmids for UBE3A 
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      QuantiTect SYBR Green Assays in human, mouse, rat UBE3A
      QuantiFast Probe-based Assays in human, mouse, rat UBE3A

    Additional mRNA 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 

    Selected DOTS entries (see all 26):

    DT.95130430  DT.75193435  DT.100039604  DT.95128484  DT.91780874  DT.121035864  DT.97811226  DT.95113709 
    DT.91723398  DT.121035674  DT.91780860  DT.100796760  DT.92004819  DT.121035651  DT.121035785  DT.121035817 
    DT.100031879  DT.121035519  DT.121035667  DT.121130034  DT.205633  DT.95130426  DT.95130433  DT.121035501 

    Selected AceView cDNA sequences (see all 481):

    AA126792 AI738491 BM770427 NM_130838 CA438427 F04678 AI758370 CD251843 
    CB853260 AA747732 BF431387 BF591023 BM826171 BF434588 AI199542 BF223051 
    AA745821 BX495512 AA644333 AI564150 AI478227 T41246 AI393935 AI089486 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UBE3A (see all 12)    About this scheme

    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:      


    ECgene alternative splicing isoforms for UBE3A

    (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)
    About This Section

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    UBE3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTAAAACA
    UBE3A Expression
    About this image


    UBE3A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             Septum   
    UBE3A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBE3A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.598862
        Pathway & Disease-focused RT2 Profiler PCR Array including UBE3A: 
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for UBE3A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ube3a1 , 5 ubiquitin protein ligase E3A1, 5 93.56(n)1
    96.2(a)1
      7 (33.95 cM)5
    222151  NM_011668.21  NP_035798.21 
     592287525 
    chicken
    (Gallus gallus)
    Aves UBE3A1 ubiquitin protein ligase E3A 88.42(n)
    95.07(a)
      418686  XM_004938474.1  XP_004938531.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBE3A6
    ubiquitin protein ligase E3A
    93(a)
    1 ↔ 1
    3(109596863-109622760)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ube3a1 ubiquitin protein ligase E3A (human papilloma virus more 82.36(n)
    92.61(a)
      407881  NM_001001213.1  NP_001001213.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ube3a1 ubiquitin protein ligase E3A 75.98(n)
    86.85(a)
      792398  NM_001007318.1  NP_001007319.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG61903
    Ube3a1
    ubiquitin-protein ligase3
    Ubiquitin protein ligase E3A1
    42(a)3
    50.42(n)1
    46(a)1
      68B13
    392661  NM_140195.41  NP_648452.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HUL46
    Protein with similarity to hect domain E3 ubiquiti...
    23(a)
    1 → many
    X(500713-503391) YJR036C


    ENSEMBL Gene Tree for UBE3A (if available)
    TreeFam Gene Tree for UBE3A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBE3A gene
    HERC32  HERC62  RCCD12  HECTD22  HERC42  HERC52  
    16 SIMAP similar genes for UBE3A using alignment to 7 protein entries:     UBE3A_HUMAN (see all proteins):
    HACE1    AREL1    HERC4    HECTD2    HERC3    DKFZp564G092
    UBE3B    NEDD4L    HERC5    SMURF2    NEDD4    HUWE1
    DKFZp564H223    HECW1    HERC6    HECTD1

    Find genes that share paralogs with UBE3A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for UBE3A
    PGOHUM00000239064


    (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 UBE3A (see all 1966)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1110335951,2
    Cpathogenic15579192(-) TTCTGA/GGAAAT 6 * W stg10--------
    rs1110335941,2
    Cpathogenic15609838(-) ATTGTC/TGAAAA 6 R * stg10--------
    rs1110335971,2
    Cpathogenic15610698(-) TGTTAC/TTGGAA 6 T I mis10--------
    rs1110335961,2
    Cpathogenic15610771(-) ACTTAA/CCAGAA 6 T P mis10--------
    rs1451405251,2
    Cuntested13773300(+) GTTCAC/TAGCAA 3 -- int10--------
    rs1179438551,2
    C,F--3706524(+) TTTATA/GACATA 3 -- ds50011Minor allele frequency- G:0.01EA 120
    rs1827783131,2
    --3706572(+) TGTCTA/GTGTTT 3 -- ds50010--------
    rs1874260591,2
    --3706611(+) CATTAA/TATAGT 3 -- ds50010--------
    rs1393462001,2
    --3706657(+) ATGCCA/CGGCAT 3 -- ds50010--------
    rs361174121,2
    C,F--3706675(+) CAAGCT/CAGAGC 3 -- ds50014Minor allele frequency- C:0.11NA CSA WA 242

    HapMap Linkage Disequilibrium report for UBE3A (25582381 - 25684175 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for UBE3A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv994643CNV Deletion20482838
    esv2749461CNV Deletion23290073
    esv1788582CNV Insertion17803354
    nsv1468CNV Insertion18451855
    nsv832937CNV Loss17160897
    esv33464CNV Gain17666407

    Human Gene Mutation Database (HGMD): UBE3A
    Locus Specific Mutation Databases (LSDB): UBE3A

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBE3A
    DNA2.0 Custom Variant and Variant Library Synthesis for UBE3A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601623   
    OMIM disorders: 105830  
    UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086
  • Angelman syndrome (AS) [MIM:105830]: A neurodevelopmental disorder characterized by severe motor and
    intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia,
    seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression
    revealing the tongue. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for UBE3A:    
    About MalaCards
    papilloma    ataxic cerebral palsy    angelman syndrome    classic rett syndrome
    hypotonia    rett syndrome

    8 diseases from the University of Copenhagen DISEASES database for UBE3A:
    Angelman syndrome     Prader-Willi syndrome     Autistic disorder     Intellectual disability
    Cervical cancer     Microcephaly     Rett syndrome     Ataxic cerebral palsy

    Find genes that share disorders with UBE3A           About GenesLikeMe

    Selected Novoseek inferred disease relationships for UBE3A gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    angelman syndrome 97.1 96 18487518 (4), 9321755 (3), 18701717 (3), 11258627 (3) (see all 72)
    prader-willi syndrome 84 6 11350123 (1), 17680527 (1), 10400982 (1), 9601023 (1) (see all 6)
    severe mental retardation 72.6 1 9891052 (1)
    rett syndrome 71.3 3 15757975 (1), 15615769 (1), 15866439 (1)
    cervical cancer 62.8 15 10726657 (2), 15994823 (1), 19159528 (1), 10864652 (1) (see all 10)
    speech impairment 56.1 2 9891052 (1), 10424818 (1)
    papilloma 55.4 11 17131388 (2), 7615550 (1), 9182527 (1), 10373495 (1) (see all 9)
    mental retardation 53.5 3 9321755 (1), 17036311 (1), 18193166 (1)
    autistic 47.9 3 10089011 (1), 15521981 (1), 11353404 (1)
    cervical carcinoma 46.2 2 8397367 (1), 15731267 (1)

    GeneTests: UBE3A
    GeneReviews: UBE3A
    Genetic Association Database (GAD): UBE3A
    Human Genome Epidemiology (HuGE) Navigator: UBE3A (9 documents)

    Export disorders for UBE3A 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 UBE3A gene, integrated from 10 sources (see all 357):
    (articles sorted by number of sources associating them with UBE3A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ubiquitin-protein ligase E6-associated protein (E6-AP) serves as its own substrate. (PubMed id 9688277)1, 2, 9 Nuber U.... Scheffner M. (Eur. J. Biochem. 1998)
    2. Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation. (PubMed id 19204938)1, 2, 9 Shimoji T.... Shoji I. (J. Cell. Biochem. 2009)
    3. VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A. (PubMed id 12207887)1, 2, 9 Wong E.Y.... Yeung W.S. (Biochem. Biophys. Res. Commun. 2002)
    4. Identification of HHR23A as a substrate for E6-associated protein- mediated ubiquitination. (PubMed id 10373495)1, 2, 9 Kumar S.... Howley P.M. (J. Biol. Chem. 1999)
    5. The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. (PubMed id 9143503)1, 2, 9 Yamamoto Y.... Howley P.M. (Genomics 1997)
    6. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. (PubMed id 8988172)1, 2, 9 Matsuura T.... Beaudet A.L. (Nat. Genet. 1997)
    7. The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of Hsp70-bound misfolded proteins. (PubMed id 19233847)1, 2, 9 Mishra A.... Jana N.R. (J. Biol. Chem. 2009)
    8. UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. (PubMed id 15054837)1, 4, 9 Rapakko K....Leisti J. (Am. J. Med. Genet. A 2004)
    9. Mutation analysis of UBE3A in Angelman syndrome patients. (PubMed id 9585605)1, 2, 9 Malzac P.... Wagstaff J. (Am. J. Hum. Genet. 1998)
    10. E6AP promotes the degradation of the PML tumor suppressor. (PubMed id 19325566)1, 2, 9 Louria-Hayon I.... Haupt Y. (Cell Death Differ. 2009)

    (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)

    (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

    (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 UBE3A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UBE3A Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=UBE3A[genesymbol]

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

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



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