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Aliases for UBE3A Gene

Aliases for UBE3A Gene

  • Ubiquitin Protein Ligase E3A 2 3
  • Human Papilloma Virus E6-Associated Protein 2 3
  • Human Papillomavirus E6-Associated Protein 3 4
  • Oncogenic Protein-Associated Protein E6-AP 3 4
  • Renal Carcinoma Antigen NY-REN-54 3 4
  • E6AP Ubiquitin-Protein Ligase 3 4
  • EPVE6AP 3 4
  • HPVE6A 3 4
  • ANCR 3 6
  • Ubiquitin-Protein Ligase E3A 3
  • CTCL Tumor Antigen Se37-2 3
  • Angelman Syndrome 2
  • EC 6.3.2.- 4
  • E6-AP 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 papilloma. Among its related pathways are Class I MHC mediated antigen processing and presentation and GPCR Pathway. GO annotations related to this gene include ubiquitin-protein transferase activity and transcription coactivator activity. An important paralog of this gene is HERC5.

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

Transcription factor binding sites by QIAGEN in the UBE3A gene promoter:

Genomic Location for UBE3A Gene

Start:
25,333,729 bp from pter
End:
25,439,043 bp from pter
Size:
105,315 bases
Orientation:
Minus strand

Genomic View for UBE3A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for UBE3A Gene at MOPED

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 Lys30, Lys71, Lys77, Lys101, Lys123, Lys132, Lys226, Lys323, Lys330, Lys350, Lys373, Lys421, Lys468, Lys711, Lys724, Lys728, Lys802, Lys822, Lys824, Lys829, and Lys870
  • Modification sites at PhosphoSitePlus

Other Protein References for UBE3A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBE3A (UBE3A)

No data available for DME Specific Peptides for UBE3A Gene

Domains for UBE3A Gene

Protein Domains for UBE3A Gene

Graphical View of Domain Structure for InterPro Entry

Q05086

UniProtKB/Swiss-Prot:

UBE3A_HUMAN :
  • Q05086
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 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 IDA 12890688
GO:0005515 protein binding IPI 12207887
GO:0016874 ligase activity IEA --
GO:0061630 ubiquitin protein ligase activity IMP 7708685
genes like me logo Genes that share ontologies with UBE3A: view
genes like me logo Genes that share phenotypes with UBE3A: view

Animal Models for UBE3A Gene

MGI Knock Outs for UBE3A:

Animal Model Products

CRISPR Products

miRNA for UBE3A Gene

miRTarBase miRNAs that target UBE3A

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UBE3A

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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
nucleus 4
cytosol 3
golgi apparatus 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 IBA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with UBE3A: view

Pathways for UBE3A Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 TAS 8221889
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

Compounds for UBE3A Gene

(4) HMDB Compounds for UBE3A Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(14) Novoseek inferred chemical compound relationships for UBE3A Gene

Compound -log(P) Hits PubMed IDs
hpvs 76.2 4
2-methoxyethanol 24.8 1
lysine 21.3 3
cysteine 19.4 7
gaba 13.2 3
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UBE3A

Primer 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 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 (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBE3A Gene

SOURCE GeneReport for Unigene cluster for UBE3A Gene Hs.598862

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

In Situ Assay 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 35
  • 99.92 (n)
  • 100 (a)
UBE3A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBE3A 35
  • 95.33 (n)
  • 97.93 (a)
UBE3A 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBE3A 35
  • 95.8 (n)
  • 98.38 (a)
UBE3A 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ube3a 35
  • 93.56 (n)
  • 96.2 (a)
Ube3a 16
Ube3a 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBE3A 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 96 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ube3a 35
  • 93.12 (n)
  • 96.54 (a)
chicken
(Gallus gallus)
Aves UBE3A 35
  • 88.42 (n)
  • 95.07 (a)
UBE3A 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBE3A 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube3a 35
  • 82.36 (n)
  • 92.61 (a)
zebrafish
(Danio rerio)
Actinopterygii ube3a 35
  • 75.98 (n)
  • 86.85 (a)
ube3a 36
  • 86 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012366 35
  • 51.97 (n)
  • 50.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ube3a 35
  • 50.42 (n)
  • 46 (a)
Ube3a 36
  • 40 (a)
OneToOne
CG6190 37
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL4 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.429 36
  • 44 (a)
OneToOne
Species with no ortholog for UBE3A:
  • 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 MAF
rs732739 -- 25,434,520(+) TAACA(C/T)TATTT intron-variant
rs734127 -- 25,433,909(+) AAAAT(G/T)AAAAA intron-variant
rs734238 -- 25,414,192(+) TGCCT(A/C)ATCTC intron-variant
rs757438 -- 25,376,492(+) TTTTT(A/T)AAAAA intron-variant
rs1041933 -- 25,409,602(-) TTTTA(A/G)TCAGT intron-variant

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

Variant ID Type Subtype PubMed ID
esv33464 CNV Gain 17666407
esv994643 CNV Deletion 20482838
esv2749461 CNV Deletion 23290073
nsv1468 CNV Insertion 18451855
nsv832937 CNV Loss 17160897
esv1788582 CNV Insertion 17803354

Relevant External Links for UBE3A Gene

HapMap Linkage Disequilibrium report
UBE3A
Human Gene Mutation Database (HGMD)
UBE3A
Locus Specific Mutation Databases (LSDB)
UBE3A

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

Disorders for UBE3A Gene

MalaCards: The human disease database

MalaCards: The human disease database. (6) Diseases for UBE3A Gene including...

Search for UBE3A Gene in MalaCards »

(1) OMIM Diseases for UBE3A Gene (601623)

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.

(22) Novoseek inferred disease relationships for UBE3A Gene

Disease -log(P) Hits PubMed IDs
angelman syndrome 97.1 91
prader-willi syndrome 84 6
severe mental retardation 72.6 1
rett syndrome 71.3 3
cervical cancer 62.8 11

Relevant External Links for UBE3A

GeneTests
UBE3A
GeneReviews
UBE3A
Genetic Association Database (GAD)
UBE3A
Human Genome Epidemiology (HuGE) Navigator
UBE3A
genes like me logo Genes that share disorders with UBE3A: view

Publications for UBE3A Gene

  1. Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53. (PMID: 8380895) Huibregtse J.M. … Howley P.M. (Mol. Cell. Biol. 1993) 3 4 23
  2. UBE3A/E6-AP mutations cause Angelman syndrome. (PMID: 8988171) Kishino T. … Wagstaff J. (Nat. Genet. 1997) 3 4 23
  3. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. (PMID: 8988172) Matsuura T. … Beaudet A.L. (Nat. Genet. 1997) 3 4 23
  4. The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. (PMID: 9143503) Yamamoto Y. … Howley P.M. (Genomics 1997) 3 4 23
  5. Mutation analysis of UBE3A in Angelman syndrome patients. (PMID: 9585605) Malzac P. … Wagstaff J. (Am. J. Hum. Genet. 1998) 3 4 23

Products for UBE3A Gene

  • Addgene plasmids for UBE3A

Sources for UBE3A Gene

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