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UniProtKB - Q05086 (UBE3A_HUMAN)

Entry version 216 (23 Feb 2022)
Sequence version 4 (25 Nov 2008)
Previous versions | rss
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Protein

Ubiquitin-protein ligase E3A

Gene

UBE3A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 (PubMed:10373495, PubMed:16772533, PubMed:19204938, PubMed:19233847, PubMed:19325566, PubMed:19591933, PubMed:22645313, PubMed:24273172, PubMed:24728990).

Several substrates have been identified including the ARNTL/BMAL1, ARC, RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B (PubMed:10373495, PubMed:19204938, PubMed:19325566, PubMed:19591933, PubMed:22645313, PubMed:24728990).

Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins (PubMed:19233847).

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).

Acts as transcriptional coactivator of progesterone receptor PGR upon progesterone hormone activation (PubMed:16772533).

Acts as a regulator of synaptic development by mediating ubiquitination and degradation of ARC (By similarity).

Synergizes with WBP2 in enhancing PGR activity (PubMed:16772533).

By similarity9 Publications

(Microbial infection) Catalyzes the high-risk human papilloma virus E6-mediated ubiquitination of p53/TP53, contributing to the neoplastic progression of cells infected by these viruses.

1 Publication

Miscellaneous

A cysteine residue is required for ubiquitin-thioester formation.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei843Glycyl thioester intermediate1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri44 – 83C4-type; atypical1 PublicationAdd BLAST40

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processBiological rhythms, Host-virus interaction, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.3.2.26, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q05086

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q05086

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q05086

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00143

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		Q05086, Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ubiquitin-protein ligase E3A (EC:2.3.2.261 Publication)
Alternative name(s):
E6AP ubiquitin-protein ligase1 Publication
HECT-type ubiquitin transferase E3A
Human papillomavirus E6-associated protein1 Publication
Oncogenic protein-associated protein E6-AP1 Publication
Renal carcinoma antigen NY-REN-54
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UBE3AImported
Synonyms:E6AP1 Publication, EPVE6AP1 Publication, HPVE6A1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:12496, UBE3A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601623, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q05086

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000114062

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Nucleus, Proteasome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Angelman syndrome (AS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073196129T → K in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781241Ensembl.1
Natural variantiVAR_073199235D → V in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780581Ensembl.1
Natural variantiVAR_073200260L → H in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780582Ensembl.1
Natural variantiVAR_073201260L → Q in AS; unknown pathological significance. 1 Publication1
Natural variantiVAR_073202286L → W in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780583Ensembl.1
Natural variantiVAR_073205458L → P in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781242Ensembl.1
Natural variantiVAR_073206481P → L in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780584Ensembl.1
Natural variantiVAR_073207500R → P in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781243Ensembl.1
Natural variantiVAR_073209568G → R in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781233Ensembl.1
Natural variantiVAR_073210589M → K in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781244Ensembl.1
Natural variantiVAR_073211607E → Q in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781235Ensembl.1
Natural variantiVAR_073214679T → I in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781236Ensembl.1
Natural variantiVAR_073216713F → C in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781237Ensembl.1
Natural variantiVAR_008144826I → II in AS. 1 Publication1
Natural variantiVAR_073218850P → L in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781239Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi750F → D: Disrupt trimer formation, 50-fold reduction in E3 ligase activity. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		7337

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		UBE3A

MalaCards human disease database

More...MalaCardsi		UBE3A
MIMi105830, phenotype

Open Targets

More...OpenTargetsi		ENSG00000114062

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		238446, 15q11q13 microduplication syndrome
411511, Angelman syndrome due to a point mutation
411515, Angelman syndrome due to imprinting defect in 15q11-q13
98794, Angelman syndrome due to maternal 15q11q13 deletion
98795, Angelman syndrome due to paternal uniparental disomy of chromosome 15

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37144

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q05086, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		UBE3A

Domain mapping of disease mutations (DMDM)

More...DMDMi		215274240

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001949801 – 875Ubiquitin-protein ligase E3AAdd BLAST875

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei218PhosphoserineCombined sources1
Modified residuei659Phosphotyrosine; by ABL11 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Tyr-659 by ABL1 impairs E3 ligase activity and protects p53/TP53 from degradation in (HPV)-infected cells.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q05086

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q05086

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q05086

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q05086

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q05086

PeptideAtlas

More...PeptideAtlasi		Q05086

PRoteomics IDEntifications database

More...PRIDEi		Q05086

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58306 [Q05086-1]
58307 [Q05086-2]
58308 [Q05086-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q05086, 1 site, 2 O-linked glycans (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q05086

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q05086

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q05086

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q05086

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000114062, Expressed in intestine and 256 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q05086, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q05086, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000114062, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The active form is probably a homotrimer. Binds UBQLN1 and UBQLN2.

Interacts with the 26S proteasome.

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 ESR1 and WBP2 (PubMed:16772533, PubMed:21642474).

Interacts with ARNTL/BMAL1 (PubMed:24728990).

Interacts with ARC (By similarity).

By similarity9 Publications

(Microbial infection) Interacts with HCV core protein and targets it to degradation.

1 Publication

(Microbial infection) 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.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
Q05086
With#Exp.IntAct
MCM6 [Q14566]6EBI-954357,EBI-374900
MEF2C [Q06413]3EBI-954357,EBI-2684075
PSMD4 [P55036]3EBI-954357,EBI-359318
TAT [P17735]3EBI-954357,EBI-12046643
TP53 [P04637]6EBI-954357,EBI-366083
E6 [P03126] from Human papillomavirus type 16.10EBI-954357,EBI-1177242
E6 [P04019] from Human papillomavirus 11.5EBI-954357,EBI-1177232
E6 [P06462] from Human papillomavirus type 6b.2EBI-954357,EBI-7069993
E6 [P06463] from Human papillomavirus type 18.7EBI-954357,EBI-1186926
E6 [P06931] from Bovine papillomavirus type 1.2EBI-954357,EBI-7281937
E6 [P36799] from Human papillomavirus 3.2EBI-954357,EBI-7363822
E6 [Q77E16] from Human papillomavirus type 16.3EBI-954357,EBI-7011359
Isoform I [Q05086-2]
With#Exp.IntAct
AHSP [Q9NZD4]3EBI-10175863,EBI-720250
ASAP3 [Q8TDY4]3EBI-10175863,EBI-2609717
ATG9A [Q7Z3C6]3EBI-10175863,EBI-727146
EIF3C [Q99613]2EBI-10175863,EBI-353741
HERC2 [O95714]5EBI-10175863,EBI-1058922
KLHL38 [Q2WGJ6]3EBI-10175863,EBI-6426443
MCM6 [Q14566]3EBI-10175863,EBI-374900
PSMD4 [P55036]3EBI-10175863,EBI-359318
TAT [A1L4G7]3EBI-10175863,EBI-10223561
UBB [Q5U5U6]3EBI-10175863,EBI-1642104
B3KPL73EBI-10175863,EBI-10175860
Isoform III [Q05086-3]
With#Exp.IntAct
IDH1 [O75874]3EBI-11026619,EBI-715695
MARF1 [Q9Y4F3]3EBI-11026619,EBI-5235902
NR4A3 [Q92570]3EBI-11026619,EBI-13644623
RHBDD2 - isoform 3 [Q6NTF9-3]3EBI-11026619,EBI-17589229
SNAPC3 [Q92966]3EBI-11026619,EBI-1760638
TAT [P17735]11EBI-11026619,EBI-12046643
TMEM14B [Q9NUH8]3EBI-11026619,EBI-8638294
UBC [P0CG48]3EBI-11026619,EBI-3390054
A0A2K7P7763EBI-11026619,EBI-18894179

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113185, 383 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q05086

Database of interacting proteins

More...DIPi		DIP-6002N

Protein interaction database and analysis system

More...IntActi		Q05086, 159 interactors

Molecular INTeraction database

More...MINTi		Q05086

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000232165

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q05086, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1875
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		Q05086

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q05086

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q05086

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini776 – 875HECTPROSITE-ProRule annotationAdd BLAST100

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni175 – 226DisorderedSequence analysisAdd BLAST52
Regioni401 – 418E6-bindingAdd BLAST18
Regioni418 – 517Interaction with HCV core proteinAdd BLAST100

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi175 – 201Basic and acidic residuesSequence analysisAdd BLAST27
Compositional biasi212 – 226Polar residuesSequence analysisAdd BLAST15

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri44 – 83C4-type; atypical1 PublicationAdd BLAST40

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0941, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155050

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q05086

Identification of Orthologs from Complete Genome Data

More...OMAi		WSIVHAM

Database of Orthologous Groups

More...OrthoDBi		339404at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q05086

TreeFam database of animal gene trees

More...TreeFami		TF315189

Family and domain databases

Conserved Domains Database

More...CDDi		cd00078, HECTc, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		6.10.130.10, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00209

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR032353, AZUL
IPR042556, AZUL_sf
IPR000569, HECT_dom
IPR035983, Hect_E3_ubiquitin_ligase
IPR017134, UBE3A

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16558, AZUL, 1 hit
PF00632, HECT, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037201, Ubiquitin-protein_ligase_E6-AP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00119, HECTc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56204, SSF56204, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50237, HECT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform II (identifier: Q05086-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEKLHQCYWK SGEPQSDDIE ASRMKRAAAK HLIERYYHQL TEGCGNEACT 
        60         70         80         90        100
NEFCASCPTF LRMDNNAAAI KALELYKINA KLCDPHPSKK GASSAYLENS 
       110        120        130        140        150
KGAPNNSCSE IKMNKKGARI DFKDVTYLTE EKVYEILELC REREDYSPLI 
       160        170        180        190        200
RVIGRVFSSA EALVQSFRKV KQHTKEELKS LQAKDEDKDE DEKEKAACSA 
       210        220        230        240        250
AAMEEDSEAS SSRIGDSSQG DNNLQKLGPD DVSVDIDAIR RVYTRLLSNE 
       260        270        280        290        300
KIETAFLNAL VYLSPNVECD LTYHNVYSRD PNYLNLFIIV MENRNLHSPE 
       310        320        330        340        350
YLEMALPLFC KAMSKLPLAA QGKLIRLWSK YNADQIRRMM ETFQQLITYK 
       360        370        380        390        400
VISNEFNSRN LVNDDDAIVA ASKCLKMVYY ANVVGGEVDT NHNEEDDEEP 
       410        420        430        440        450
IPESSELTLQ ELLGEERRNK KGPRVDPLET ELGVKTLDCR KPLIPFEEFI 
       460        470        480        490        500
NEPLNEVLEM DKDYTFFKVE TENKFSFMTC PFILNAVTKN LGLYYDNRIR 
       510        520        530        540        550
MYSERRITVL YSLVQGQQLN PYLRLKVRRD HIIDDALVRL EMIAMENPAD 
       560        570        580        590        600
LKKQLYVEFE GEQGVDEGGV SKEFFQLVVE EIFNPDIGMF TYDESTKLFW 
       610        620        630        640        650
FNPSSFETEG QFTLIGIVLG LAIYNNCILD VHFPMVVYRK LMGKKGTFRD 
       660        670        680        690        700
LGDSHPVLYQ SLKDLLEYEG NVEDDMMITF QISQTDLFGN PMMYDLKENG 
       710        720        730        740        750
DKIPITNENR KEFVNLYSDY ILNKSVEKQF KAFRRGFHMV TNESPLKYLF 
       760        770        780        790        800
RPEEIELLIC GSRNLDFQAL EETTEYDGGY TRDSVLIREF WEIVHSFTDE 
       810        820        830        840        850
QKRLFLQFTT GTDRAPVGGL GKLKMIIAKN GPDTERLPTS HTCFNVLLLP 
       860        870 
EYSSKEKLKE RLLKAITYAK GFGML
Length:875
Mass (Da):100,688
Last modified:November 25, 2008 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF80F0502B3B3838A
GO
Isoform I (identifier: Q05086-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.

Show »
Length:852
Mass (Da):97,968
Checksum:i3C061DA8D216055A
GO
Isoform III (identifier: Q05086-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MEKLHQCYWK → MATACKR

Show »
Length:872
Mass (Da):100,102
Checksum:iAB4C9B22356C9556
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GVL3A0A1B0GVL3_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
813Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHE5A0A6Q8PHE5_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
813Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SG77A0A0D9SG77_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
765Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R306S4R306_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
189Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SG63A0A0D9SG63_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
143Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTB3A0A1B0GTB3_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
51Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SF91A0A0D9SF91_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
187Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEJ2A0A0D9SEJ2_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
39Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SES7A0A0D9SES7_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
148Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFU3A0A0D9SFU3_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
49Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti359R → RNLVNEFNSR AA sequence (PubMed:8380895).Curated1
Sequence conflicti423P → L in AAA35542 (PubMed:8380895).Curated1
Sequence conflicti647 – 649TFR → LFV in AAA35542 (PubMed:8380895).Curated3
Sequence conflicti669E → V in AAA35542 (PubMed:8380895).Curated1
Sequence conflicti686D → N in AAA35542 (PubMed:8380895).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00785244C → Y1 Publication1
Natural variantiVAR_00814262R → H1 PublicationCorresponds to variant dbSNP:rs587784511Ensembl.1
Natural variantiVAR_073196129T → K in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781241Ensembl.1
Natural variantiVAR_073197140C → R May be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782907Ensembl.1
Natural variantiVAR_073198156V → G May be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782915Ensembl.1
Natural variantiVAR_007853201A → T2 PublicationsCorresponds to variant dbSNP:rs147145506Ensembl.1
Natural variantiVAR_073199235D → V in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780581Ensembl.1
Natural variantiVAR_073200260L → H in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780582Ensembl.1
Natural variantiVAR_073201260L → Q in AS; unknown pathological significance. 1 Publication1
Natural variantiVAR_073202286L → W in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780583Ensembl.1
Natural variantiVAR_047516290V → G3 PublicationsCorresponds to variant dbSNP:rs1059383Ensembl.1
Natural variantiVAR_073203293N → T May be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782908Ensembl.1
Natural variantiVAR_073204358S → T May be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs141984760Ensembl.1
Natural variantiVAR_008143372S → P1 Publication1
Natural variantiVAR_073205458L → P in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781242Ensembl.1
Natural variantiVAR_073206481P → L in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780584Ensembl.1
Natural variantiVAR_073207500R → P in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781243Ensembl.1
Natural variantiVAR_073208501M → I May be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782916Ensembl.1
Natural variantiVAR_073209568G → R in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781233Ensembl.1
Natural variantiVAR_073210589M → K in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781244Ensembl.1
Natural variantiVAR_073211607E → Q in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781235Ensembl.1
Natural variantiVAR_073212611Q → E May be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782918Ensembl.1
Natural variantiVAR_073213611Q → P May be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782919Ensembl.1
Natural variantiVAR_073214679T → I in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781236Ensembl.1
Natural variantiVAR_073215696L → R May be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782920Ensembl.1
Natural variantiVAR_073216713F → C in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781237Ensembl.1
Natural variantiVAR_073217785V → I May be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782910Ensembl.1
Natural variantiVAR_008144826I → II in AS. 1 Publication1
Natural variantiVAR_073218850P → L in AS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587781239Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0067051 – 23Missing in isoform I. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_0067061 – 10MEKLHQCYWK → MATACKR in isoform III. 2 Publications10

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X98021 X98030 Genomic DNA Translation: CAA66653.1
X98031 mRNA Translation: CAA66654.1
X98032 mRNA Translation: CAA66655.1
X98033 mRNA Translation: CAA66656.1
AC100774 Genomic DNA No translation available.
AK292514 mRNA Translation: BAF85203.1
AC124997 Genomic DNA No translation available.
CH471151 Genomic DNA Translation: EAW57645.1
L07557 mRNA Translation: AAA35542.1
AF016708 AF016707 Genomic DNA Translation: AAB69154.1
U84404 mRNA Translation: AAB49301.1
AJ001107 Genomic DNA Translation: CAA04534.1
AJ001108 Genomic DNA Translation: CAA04535.1
AJ001109 Genomic DNA Translation: CAA04536.1
AJ001110 Genomic DNA Translation: CAA04537.1
AJ001111 Genomic DNA Translation: CAA04538.1
AJ001112 Genomic DNA Translation: CAA04539.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32177.1 [Q05086-2]
CCDS45191.1 [Q05086-3]
CCDS45192.1 [Q05086-1]
CCDS86436.1 [Q05086-2]

NCBI Reference Sequences

More...RefSeqi		NP_000453.2, NM_000462.3 [Q05086-1]
NP_570853.1, NM_130838.1 [Q05086-2]
NP_570854.1, NM_130839.2 [Q05086-3]
XP_005268324.1, XM_005268267.4
XP_005268325.1, XM_005268268.4
XP_005268326.1, XM_005268269.4
XP_005268327.1, XM_005268270.4
XP_005268328.1, XM_005268271.4
XP_006720738.1, XM_006720675.3
XP_006720739.1, XM_006720676.3
XP_011520296.1, XM_011521994.2
XP_011520297.1, XM_011521995.2 [Q05086-1]
XP_016878033.1, XM_017022544.1
XP_016878034.1, XM_017022545.1
XP_016878035.1, XM_017022546.1
XP_016878036.1, XM_017022547.1 [Q05086-3]
XP_016878037.1, XM_017022548.1 [Q05086-3]
XP_016878038.1, XM_017022549.1
XP_016878039.1, XM_017022550.1 [Q05086-3]
XP_016878040.1, XM_017022551.1
XP_016878041.1, XM_017022552.1
XP_016878042.1, XM_017022553.1
XP_016878043.1, XM_017022554.1
XP_016878044.1, XM_017022555.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000428984; ENSP00000401265; ENSG00000114062 [Q05086-2]
ENST00000438097; ENSP00000411258; ENSG00000114062 [Q05086-2]
ENST00000566215; ENSP00000457771; ENSG00000114062 [Q05086-2]
ENST00000630424; ENSP00000486349; ENSG00000114062 [Q05086-2]
ENST00000637886; ENSP00000490258; ENSG00000114062 [Q05086-3]
ENST00000638011; ENSP00000490111; ENSG00000114062 [Q05086-2]
ENST00000638155; ENSP00000490557; ENSG00000114062 [Q05086-2]
ENST00000648336; ENSP00000497572; ENSG00000114062 [Q05086-3]
ENST00000649550; ENSP00000497549; ENSG00000114062 [Q05086-2]
ENST00000650110; ENSP00000497594; ENSG00000114062

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7337

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7337

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000648336.2; ENSP00000497572.2; NM_130839.5; NP_570854.1 [Q05086-3]

UCSC genome browser

More...UCSCi		uc001zaq.4, human [Q05086-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98021 X98030 Genomic DNA Translation: CAA66653.1
X98031 mRNA Translation: CAA66654.1
X98032 mRNA Translation: CAA66655.1
X98033 mRNA Translation: CAA66656.1
AC100774 Genomic DNA No translation available.
AK292514 mRNA Translation: BAF85203.1
AC124997 Genomic DNA No translation available.
CH471151 Genomic DNA Translation: EAW57645.1
L07557 mRNA Translation: AAA35542.1
AF016708 AF016707 Genomic DNA Translation: AAB69154.1
U84404 mRNA Translation: AAB49301.1
AJ001107 Genomic DNA Translation: CAA04534.1
AJ001108 Genomic DNA Translation: CAA04535.1
AJ001109 Genomic DNA Translation: CAA04536.1
AJ001110 Genomic DNA Translation: CAA04537.1
AJ001111 Genomic DNA Translation: CAA04538.1
AJ001112 Genomic DNA Translation: CAA04539.1
CCDSiCCDS32177.1 [Q05086-2]
CCDS45191.1 [Q05086-3]
CCDS45192.1 [Q05086-1]
CCDS86436.1 [Q05086-2]
RefSeqiNP_000453.2, NM_000462.3 [Q05086-1]
NP_570853.1, NM_130838.1 [Q05086-2]
NP_570854.1, NM_130839.2 [Q05086-3]
XP_005268324.1, XM_005268267.4
XP_005268325.1, XM_005268268.4
XP_005268326.1, XM_005268269.4
XP_005268327.1, XM_005268270.4
XP_005268328.1, XM_005268271.4
XP_006720738.1, XM_006720675.3
XP_006720739.1, XM_006720676.3
XP_011520296.1, XM_011521994.2
XP_011520297.1, XM_011521995.2 [Q05086-1]
XP_016878033.1, XM_017022544.1
XP_016878034.1, XM_017022545.1
XP_016878035.1, XM_017022546.1
XP_016878036.1, XM_017022547.1 [Q05086-3]
XP_016878037.1, XM_017022548.1 [Q05086-3]
XP_016878038.1, XM_017022549.1
XP_016878039.1, XM_017022550.1 [Q05086-3]
XP_016878040.1, XM_017022551.1
XP_016878041.1, XM_017022552.1
XP_016878042.1, XM_017022553.1
XP_016878043.1, XM_017022554.1
XP_016878044.1, XM_017022555.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1C4ZX-ray2.60A/B/C518-875[»]
1D5FX-ray2.80A/B/C518-875[»]
1EQXNMR-A401-418[»]
2KR1NMR-A24-87[»]
4GIZX-ray2.55A/B403-414[»]
4XR8X-ray2.25A/B406-417[»]
6SJVX-ray2.03A403-417[»]
6SLMX-ray2.80A403-417[»]
6TGKX-ray1.30C765-869[»]
6U19NMR-B24-87[»]
BMRBiQ05086
SMRiQ05086
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113185, 383 interactors
CORUMiQ05086
DIPiDIP-6002N
IntActiQ05086, 159 interactors
MINTiQ05086
STRINGi9606.ENSP00000232165

Protein family/group databases

MoonDBiQ05086, Predicted

PTM databases

GlyGeniQ05086, 1 site, 2 O-linked glycans (1 site)
iPTMnetiQ05086
MetOSiteiQ05086
PhosphoSitePlusiQ05086
SwissPalmiQ05086

Genetic variation databases

BioMutaiUBE3A
DMDMi215274240

Proteomic databases

EPDiQ05086
jPOSTiQ05086
MassIVEiQ05086
MaxQBiQ05086
PaxDbiQ05086
PeptideAtlasiQ05086
PRIDEiQ05086
ProteomicsDBi58306 [Q05086-1]
58307 [Q05086-2]
58308 [Q05086-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		9118, 425 antibodies from 37 providers

The DNASU plasmid repository

More...DNASUi		7337

Genome annotation databases

EnsembliENST00000428984; ENSP00000401265; ENSG00000114062 [Q05086-2]
ENST00000438097; ENSP00000411258; ENSG00000114062 [Q05086-2]
ENST00000566215; ENSP00000457771; ENSG00000114062 [Q05086-2]
ENST00000630424; ENSP00000486349; ENSG00000114062 [Q05086-2]
ENST00000637886; ENSP00000490258; ENSG00000114062 [Q05086-3]
ENST00000638011; ENSP00000490111; ENSG00000114062 [Q05086-2]
ENST00000638155; ENSP00000490557; ENSG00000114062 [Q05086-2]
ENST00000648336; ENSP00000497572; ENSG00000114062 [Q05086-3]
ENST00000649550; ENSP00000497549; ENSG00000114062 [Q05086-2]
ENST00000650110; ENSP00000497594; ENSG00000114062
GeneIDi7337
KEGGihsa:7337
MANE-SelectiENST00000648336.2; ENSP00000497572.2; NM_130839.5; NP_570854.1 [Q05086-3]
UCSCiuc001zaq.4, human [Q05086-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7337
DisGeNETi7337

GeneCards: human genes, protein and diseases

More...GeneCardsi		UBE3A
GeneReviewsiUBE3A
HGNCiHGNC:12496, UBE3A
HPAiENSG00000114062, Low tissue specificity
MalaCardsiUBE3A
MIMi105830, phenotype
601623, gene
neXtProtiNX_Q05086
OpenTargetsiENSG00000114062
Orphaneti238446, 15q11q13 microduplication syndrome
411511, Angelman syndrome due to a point mutation
411515, Angelman syndrome due to imprinting defect in 15q11-q13
98794, Angelman syndrome due to maternal 15q11q13 deletion
98795, Angelman syndrome due to paternal uniparental disomy of chromosome 15
PharmGKBiPA37144
VEuPathDBiHostDB:ENSG00000114062

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0941, Eukaryota
GeneTreeiENSGT00940000155050
InParanoidiQ05086
OMAiWSIVHAM
OrthoDBi339404at2759
PhylomeDBiQ05086
TreeFamiTF315189

Enzyme and pathway databases

UniPathwayiUPA00143
BRENDAi2.3.2.26, 2681
PathwayCommonsiQ05086
ReactomeiR-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiQ05086
SIGNORiQ05086

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7337, 14 hits in 1092 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		UBE3A, human
EvolutionaryTraceiQ05086

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		UBE3A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7337
PharosiQ05086, Tbio

Protein Ontology

More...PROi		PR:Q05086
RNActiQ05086, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000114062, Expressed in intestine and 256 other tissues
ExpressionAtlasiQ05086, baseline and differential
GenevisibleiQ05086, HS

Family and domain databases

CDDicd00078, HECTc, 1 hit
Gene3Di6.10.130.10, 1 hit
IDEALiIID00209
InterProiView protein in InterPro
IPR032353, AZUL
IPR042556, AZUL_sf
IPR000569, HECT_dom
IPR035983, Hect_E3_ubiquitin_ligase
IPR017134, UBE3A
PfamiView protein in Pfam
PF16558, AZUL, 1 hit
PF00632, HECT, 1 hit
PIRSFiPIRSF037201, Ubiquitin-protein_ligase_E6-AP, 1 hit
SMARTiView protein in SMART
SM00119, HECTc, 1 hit
SUPFAMiSSF56204, SSF56204, 1 hit
PROSITEiView protein in PROSITE
PS50237, HECT, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiUBE3A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q05086
Secondary accession number(s): A8K8Z9
, P78355, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 25, 2008
Last modified: February 23, 2022
This is version 216 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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