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Aliases for UBE3A Gene

Aliases for UBE3A Gene

  • Ubiquitin Protein Ligase E3A 2 3 5
  • Human Papilloma Virus E6-Associated Protein 2 3
  • Human Papillomavirus E6-Associated Protein 3 4
  • Oncogenic Protein-Associated Protein E6-AP 3 4
  • HECT-Type Ubiquitin Transferase E3A 3 4
  • Renal Carcinoma Antigen NY-REN-54 3 4
  • E6AP Ubiquitin-Protein Ligase 3 4
  • EPVE6AP 3 4
  • HPVE6A 3 4
  • Ubiquitin-Protein Ligase E3A 3
  • CTCL Tumor Antigen Se37-2 3
  • Angelman Syndrome 2
  • EC 2.3.2.26 4
  • E6-AP 3
  • ANCR 3
  • E6AP 4
  • AS 3

External Ids for UBE3A Gene

Previous HGNC Symbols for UBE3A Gene

  • EPVE6AP
  • HPVE6A

Previous GeneCards Identifiers for UBE3A Gene

  • GC15M021711
  • GC15M018295
  • GC15M023000
  • GC15M023129
  • GC15M023133
  • GC15M025582
  • GC15M003706

Summaries for UBE3A Gene

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 Angelman Syndrome and Angelman Syndrome Due To A Point Mutation. Among its related pathways are Immune System and PEDF Induced Signaling. GO annotations related to this gene include ligase activity and transcription coactivator activity. An important paralog of this gene is HECTD2.

UniProtKB/Swiss-Prot for UBE3A Gene

  • 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. Plays an important role in the regulation of the circadian clock: involved in the ubiquitination of the core clock component ARNTL/BMAL1, leading to its proteasomal degradation (PubMed:24728990).

Gene Wiki entry for UBE3A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE3A Gene

Genomics for UBE3A Gene

Regulatory Elements for UBE3A Gene

Enhancers for UBE3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F025401 0.3 FANTOM5 13 +37.7 37725 0.4 UBE3A SNURF SNRPN GC15P025728 ENSG00000261529
GH15F025341 0.8 FANTOM5 13 +97.2 97228 0.1 UBE3A SNURF SNRPN ENSG00000261529 SNORD109B
GH15F025359 0.3 FANTOM5 12.4 +79.8 79830 0.4 UBE3A SNURF SNRPN ENSG00000261529 GC15P025728
GH15F025361 1.2 FANTOM5 12.2 +78.0 77982 0.1 UBE3A ENSG00000261529 GC15P025728
GH15F025397 1 FANTOM5 Ensembl 11.9 +41.8 41756 0.6 HNF1A UBE3A GC15P025728 ENSG00000261529
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around UBE3A on UCSC Golden Path with GeneCards custom track

Promoters for UBE3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000404920 855 3999 ATF1 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 CBX5 ZNF143

Genomic Location for UBE3A Gene

Chromosome:
15
Start:
25,333,728 bp from pter
End:
25,439,056 bp from pter
Size:
105,329 bases
Orientation:
Minus strand

Genomic View for UBE3A Gene

Genes around UBE3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE3A Gene

Proteins for UBE3A Gene

  • Protein details for UBE3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05086-UBE3A_HUMAN
    Recommended name:
    Ubiquitin-protein ligase E3A
    Protein Accession:
    Q05086
    Secondary Accessions:
    • A8K8Z9
    • P78355
    • Q93066
    • Q9UEP4
    • Q9UEP5
    • Q9UEP6
    • Q9UEP7
    • Q9UEP8
    • Q9UEP9

    Protein attributes for UBE3A Gene

    Size:
    875 amino acids
    Molecular mass:
    100688 Da
    Quaternary structure:
    • The active form is probably a homotrimer. 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. Interacts with ARNTL/BMAL1.
    Miscellaneous:
    • A cysteine residue is required for ubiquitin-thioester formation.

    Three dimensional structures from OCA and Proteopedia for UBE3A Gene

    Alternative splice isoforms for UBE3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE3A Gene

Post-translational modifications for UBE3A Gene

  • Phosphorylation at Tyr-659 by ABL1 impairs E3 ligase activity and protects p53/TP53 from degradation in (HPV)-infected cells.
  • Ubiquitination at Lys 30, Lys 71, Lys 77, Lys 101, Lys 123, Lys 132, Lys 226, Lys 323, Lys 330, Lys 350, Lys 373, Lys 421, Lys 468, Lys 711, Lys 724, Lys 728, Lys 802, Lys 822, Lys 824, Lys 829, and Lys 870
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBE3A (UBE3A)
  • Cloud-Clone Corp. Antibodies for UBE3A

No data available for DME Specific Peptides for UBE3A Gene

Domains & Families for UBE3A Gene

Protein Domains for UBE3A Gene

Graphical View of Domain Structure for InterPro Entry

Q05086

UniProtKB/Swiss-Prot:

UBE3A_HUMAN :
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
Domain:
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
genes like me logo Genes that share domains with UBE3A: view

No data available for Gene Families for UBE3A Gene

Function for UBE3A Gene

Molecular function for UBE3A Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot 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. Plays an important role in the regulation of the circadian clock: involved in the ubiquitination of the core clock component ARNTL/BMAL1, leading to its proteasomal degradation (PubMed:24728990).

Enzyme Numbers (IUBMB) for UBE3A Gene

Gene Ontology (GO) - Molecular Function for UBE3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IEA --
GO:0004842 ubiquitin-protein transferase activity IEA,IDA 12890688
GO:0005515 protein binding IPI 7624774
GO:0016740 transferase activity IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with UBE3A: view
genes like me logo Genes that share phenotypes with UBE3A: view

Human Phenotype Ontology for UBE3A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UBE3A Gene

MGI Knock Outs for UBE3A:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for UBE3A Gene

Localization for UBE3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE3A Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBE3A Gene COMPARTMENTS Subcellular localization image for UBE3A gene
Compartment Confidence
cytosol 5
nucleus 5
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for UBE3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA --
GO:0005634 nucleus IEA,IBA --
GO:0005737 cytoplasm IEA,IBA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with UBE3A: view

Pathways & Interactions for UBE3A Gene

genes like me logo Genes that share pathways with UBE3A: view

UniProtKB/Swiss-Prot Q05086-UBE3A_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006508 proteolysis TAS 8221889
GO:0006511 ubiquitin-dependent protein catabolic process IEA,TAS --
GO:0007420 brain development TAS 8988171
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IEA --
genes like me logo Genes that share ontologies with UBE3A: view

No data available for SIGNOR curated interactions for UBE3A Gene

Drugs & Compounds for UBE3A Gene

(12) Drugs for UBE3A Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(6) Additional Compounds for UBE3A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with UBE3A: view

Transcripts for UBE3A Gene

Unigene Clusters for UBE3A Gene

Ubiquitin protein ligase E3A:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBE3A Gene

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:
SP6: -
SP7: -
SP8: - - - - - -
SP9:
SP10: - - - - - - -
SP11: -
SP12:

ExUns: 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for UBE3A Gene

GeneLoc Exon Structure for
UBE3A
ECgene alternative splicing isoforms for
UBE3A

Expression for UBE3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBE3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UBE3A Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for UBE3A Gene

This gene is overexpressed in Lymph node (10.7) and Peripheral blood mononuclear cells (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBE3A Gene



Protein tissue co-expression partners for UBE3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBE3A Gene:

UBE3A

SOURCE GeneReport for Unigene cluster for UBE3A Gene:

Hs.598862
genes like me logo Genes that share expression patterns with UBE3A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for UBE3A Gene

Orthologs for UBE3A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBE3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBE3A 34 35
  • 99.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 96 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia UBE3A 34 35
  • 95.8 (n)
cow
(Bos Taurus)
Mammalia UBE3A 34 35
  • 95.33 (n)
oppossum
(Monodelphis domestica)
Mammalia UBE3A 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ube3a 34 16 35
  • 93.56 (n)
rat
(Rattus norvegicus)
Mammalia Ube3a 34
  • 93.12 (n)
chicken
(Gallus gallus)
Aves UBE3A 34 35
  • 88.42 (n)
lizard
(Anolis carolinensis)
Reptilia UBE3A 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube3a 34
  • 82.36 (n)
zebrafish
(Danio rerio)
Actinopterygii ube3a 34 35
  • 75.98 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012366 34
  • 51.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ube3a 34 35
  • 50.42 (n)
CG6190 36
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL4 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.429 35
  • 44 (a)
OneToOne
Species where no ortholog for UBE3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UBE3A Gene

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

Paralogs for UBE3A Gene

Paralogs for UBE3A Gene

Pseudogenes.org Pseudogenes for UBE3A Gene

genes like me logo Genes that share paralogs with UBE3A: view

Variants for UBE3A Gene

Sequence variations from dbSNP and Humsavar for UBE3A Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs111033594 Pathogenic 25,370,865(-) ATTGT(C/T)GAAAA reference, stop-gained
rs111033595 Pathogenic 25,340,219(-) TTCTG(A/G)GAAAT reference, stop-gained
rs111033596 Pathogenic 25,371,798(-) ACTTA(A/C)CAGAA reference, missense
rs111033597 Pathogenic 25,371,725(-) TGTTA(C/T)TGGAA reference, missense
rs398124438 Pathogenic 25,370,566(-) TGTCC(GG/TGCTAGACAA)GTAAG reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for UBE3A Gene

Variant ID Type Subtype PubMed ID
esv1788582 CNV insertion 17803354
esv33464 CNV gain 17666407
esv3443008 CNV insertion 20981092
esv3569331 CNV gain 25503493
esv994643 CNV deletion 20482838
nsv1036180 CNV gain 25217958
nsv1127418 CNV deletion 24896259
nsv1468 CNV insertion 18451855
nsv832937 CNV loss 17160897
nsv976900 CNV duplication 23825009
nsv984032 CNV duplication 23825009

Variation tolerance for UBE3A Gene

Residual Variation Intolerance Score: 5.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBE3A Gene

Human Gene Mutation Database (HGMD)
UBE3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE3A Gene

Disorders for UBE3A Gene

MalaCards: The human disease database

(20) MalaCards diseases for UBE3A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

UBE3A_HUMAN
  • 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. {ECO:0000269 PubMed:25212744, ECO:0000269 PubMed:9585605}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UBE3A

Genetic Association Database (GAD)
UBE3A
Human Genome Epidemiology (HuGE) Navigator
UBE3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBE3A
genes like me logo Genes that share disorders with UBE3A: view

No data available for Genatlas for UBE3A Gene

Publications for UBE3A Gene

  1. 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. (PMID: 19233847) Mishra A. … Jana N.R. (J. Biol. Chem. 2009) 3 4 22 64
  2. E6AP promotes the degradation of the PML tumor suppressor. (PMID: 19325566) Louria-Hayon I. … Haupt Y. (Cell Death Differ. 2009) 3 4 22 64
  3. Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation. (PMID: 19204938) Shimoji T. … Shoji I. (J. Cell. Biochem. 2009) 3 4 22 64
  4. UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. (PMID: 15054837) Rapakko K. … Leisti J. (Am. J. Med. Genet. A 2004) 3 22 46 64
  5. VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A. (PMID: 12207887) Wong E.Y. … Yeung W.S. (Biochem. Biophys. Res. Commun. 2002) 3 4 22 64

Products for UBE3A Gene

Sources for UBE3A Gene

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