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

UBE3A Gene

protein-coding   GIFtS: 72
GCID: GC15M025582

ubiquitin protein ligase E3A

(Previous name: human papilloma virus E6-associated protein )
(Previous symbols: EPVE6AP, HPVE6A)
 Explore 42 diseases affiliated with
UBE3A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for UBE3A    

Aliases
for UBE3A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ubiquitin Protein Ligase E3A1 2     Oncogenic Protein-Associated Protein E6-AP2 3
EPVE6AP1 2 3     Renal Carcinoma Antigen NY-REN-542 3
HPVE6A1 2 3     E6AP Ubiquitin-Protein Ligase2 3
ANCR1 2 5     FLJ269811
AS1 2     CTCL Tumor Antigen Se37-22
E6-AP1 2     Ubiquitin-Protein Ligase E3A2
Human Papilloma Virus E6-Associated Protein1 2     E6AP3
Human Papillomavirus E6-Associated Protein2 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


Summaries
for UBE3A 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 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,
Jul 2008)

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


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 (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_026446.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBE3A gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UBE3A promoter sequence
   Search SABiosciences Chromatin IP Primers for UBE3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 25,684,128 bp from pter
Size:
 101,748 bases      Orientation:
 minus strand

Proteins
for UBE3A 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: 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
Subcellular location: Nucleus (Probable)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q05086

    • UBE3A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000232165   ENSP00000457771   ENSP00000381045   ENSP00000401265   ENSP00000411258  
    Reactome Protein details: Q05086
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: UBE3A
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    Novus Biologicals UBE3A Proteins
    Novus Biologicals UBE3A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for UBE3A

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

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


    UBE3A for ontologies           About GeneDecksing



    UBE3A Antibody Products: 
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    Uscn ELISAs and CLIAs 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
    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


    Function
    for UBE3A 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: 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

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    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 plasmid: UBE3A 3' UTR sequence
    Inhib. RNA
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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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IEA--
    GO:0004842ubiquitin-protein ligase activity IDA12890688
    GO:0005515protein binding IPI16493710


    UBE3A for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Ube3atm1Alb for UBE3A
         10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Ube3a):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     integument  mortality/aging  nervous system  no phenotypic analysis  reproductive system 

    UBE3A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for UBE3A 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 - 5/12 super-pathways (see all 12) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    		Antigen processing: Ubiquitination & Proteasome degradation1.00
    		Polyubiquitination of substrate0.75
    		Class I MHC mediated antigen processing & presentation0.83
    		Ubiquitin mediated proteolysis0.36
    2Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    3Protein Stability
    		Protein Stability1.00
    4Ubiquitin-Proteasome Dependent Proteolysis
    		Ubiquitin-Proteasome Dependent Proteolysis1.00
    5SMAD Signaling Network
    		SMAD Signaling Network1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for UBE3A
        Common schema of ubiquitination

    4 Downloadable PowerPoint Slides of QIAGEN 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

    5        Reactome Pathways for UBE3A
        Antigen processing: Ubiquitination & Proteasome degradation
    Polyubiquitination of substrate
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


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

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


    UBE3A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBE3A

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

    5/125 Interacting proteins for UBE3A (Q050861, 2, 3 ENSP000003810454) via UniProtKB, MINT, STRING, and/or I2D (see all 125)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 2, 3, ENSP000002693054EBI-954357,EBI-366083 MINT-6628330 I2D: score=4 STRING: ENSP00000269305
    PHF17Q6IE812, 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
    EAPPQ56P032, 3, ENSP000002504544MINT-2874650 I2D: score=3 STRING: ENSP00000250454
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (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 cascade IEA--


    UBE3A for ontologies           About GeneDecksing



    Drugs & Compounds
    for UBE3A 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

    UBE3A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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--
    10/14 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about UBE3A 

    Transcripts
    for UBE3A 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 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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000232165(uc001zaq.3 uc001zas.3 uc001zat.3 uc001zau.2)
    ENST00000566215 ENST00000397954 ENST00000428984 ENST00000438097(uc001zar.3)


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    8/55 QIAGEN miScript miRNA 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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    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBE3A 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UBE3A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UBE3A

    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 

    24/26 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 

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

    AI393069 BQ023908 AI637783 AA460116 AI889001 BQ063994 N64687 BQ014029 
    CB136476 BE502157 AA252617 AI867319 BQ057165 BM980432 U84404 BQ012829 
    BC009271 AI356042 W24537 AA410187 CA312147 AI128551 BE906219 CA444188 

    GeneLoc Exon Structure

    5/12 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

    Expression
    for UBE3A 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

    UBE3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGTAAAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See UBE3A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBE3A

    SOURCE GeneReport for Unigene cluster: Hs.598862
        SABiosciences Expression via Pathway-Focused PCR Array including UBE3A: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    Orthologs
    for UBE3A 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 animals.

    Orthologs for UBE3A gene from 4/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves UBE3A1 ubiquitin protein ligase E3A 88.42(n)
    95.07(a)    		   418686  XM_416882.3  XP_416882.1 
    lizard
    (Anolis carolinensis)    		 Reptilia UBE3A6
    		 --
    		 93(a)
    		 1 ↔ 1
    		 3(109597042-109614896)
    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
    51.34(n)1
    47.07(a)1    		   68B13
    392661  NM_140195.31  NP_648452.11 


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

    Paralogs
    for UBE3A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBE3A gene
    HERC12  HECTD22  HECTD32  HERC22  HERC32  RCCD12  HERC62  HERC42  
    HERC52  
    15 SIMAP similar genes for UBE3A using alignment to 6 protein entries:     UBE3A_HUMAN (see all proteins):
    HACE1    UBE3B    KIAA0317    HERC4    HECTD2    HERC3
    WWP2    DKFZp564G092    NEDD4L    SMURF2    HUWE1    HERC5
    DKFZp564H223    HERC6    HECTD1

    UBE3A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for UBE3A
    PGOHUM00000239064


    Genomic Variants
    for UBE3A 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

    10/1608 NCBI SNPs in UBE3A are shown (see all 1608)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1110335951,2
    		Cpathogenic3709865(-) TTCTGA/GGAAAT 6 * W stg10--------
    rs1110335941,2
    		Cpathogenic3740522(-) ATTGTC/TGAAAA 6 R * stg10--------
    rs1110335961,2
    		Cpathogenic3741455(-) ACTTAA/CCAGAA 6 T P mis10--------
    rs1451405251,2
    		C,unknown3773300(+) GTTCAC/TAGCAA 3 -- int10--------
    rs361174121,2
    		C,F,--3706675(+) CAAGCT/CAGAGC 3 -- ds50014Minor allele frequency- C:0.11NA CSA WA 242
    rs171154821,2
    		C--3707079(+) CCCATG/TTTACC 3 -- ut313Minor allele frequency- T:0.06MN NA 188
    rs1114506941,2
    		C,--3707380(+) AGCTAT/CAGCTT 3 -- ut312Minor allele frequency- C:0.04CSA WA 120
    rs744748351,2
    		F,--3707487(+) AGAAGA/CCTAGG 3 -- ut311Minor allele frequency- C:0.03WA 118
    rs27199241,2
    		H--3707534(+) TAAACC/TTACTT 3 -- ut31 ese36Minor allele frequency- T:0.00NS EA NA 422
    rs1174157571,2
    		C,F,--3708021(+) GAGGAT/CTGGCT 3 -- ut311Minor allele frequency- C:0.04EA 120

    HapMap Linkage Disequilibrium report for UBE3A (25582381 - 25684128 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for UBE3A
         1 CNV: 7051
    Human Gene Mutation Database (HGMD): UBE3A

    Locus Specific Mutation Databases (LSDB): UBE3A

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for UBE3A

    Disorders / Diseases
    for UBE3A gene

    (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
    UBE3A for disorders           About GeneDecksing

    OMIM gene information: 601623   
    OMIM 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

    20/42 diseases for UBE3A (see all 42):    About MalaCards
    angelman syndrome    anogenital venereal wart    papilloma    hypotonia
    prader-willi syndrome    renal carcinoma    ataxic cerebral palsy    ataxia
    adenomatous polyposis coli    classic rett syndrome    developmental disabilities    rett syndrome
    carcinoma    autism spectrum disorder    macrostomia    mental retardation syndrome
    intellectual disability    autistic disorder    cerebral palsy    cutaneous t cell lymphoma

    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

    10/22 Novoseek 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
    Angelman Syndrome

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

    Export disorders for UBE3A gene to outside databases

    Publications
    for UBE3A 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 UBE3A gene, integrated from 9 sources (see all 340):
    (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. (1998)
    2. Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation. (PubMed id 19204938)1, 2, 9 Shimoji T.... Shoji I. (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. (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. (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. (1997)
    6. 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. (2009)
    7. UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. (PubMed id 15054837)1, 4, 9 Rapakko K....Leisti J. (2004)
    8. Mutation analysis of UBE3A in Angelman syndrome patients. (PubMed id 9585605)1, 2, 9 Malzac P.... Wagstaff J. (1998)
    9. E6AP promotes the degradation of the PML tumor suppressor. (PubMed id 19325566)1, 2, 9 Louria-Hayon I.... Haupt Y. (2009)
    10. Solution structure determination and mutational analysis of the papillomavirus E6 interacting peptide of E6AP. (PubMed id 11170455)1, 2, 9 Be X.... Baleja J.D. (2001)

    External Searches for UBE3A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (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)
    About This Section
    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)
    About This Section
    		   --

    Specialized Databases showing UBE3A 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 UBE3A Pharmacogenomics, SNPs, Pathways
    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 LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for UBE3A gene:
    Search GeneIP for patents involving UBE3A

    GeneCards and IP:
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    Products
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