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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_section">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_section">'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 ‘Function’ 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 ‘Function’ 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

  • metal ion binding Source: UniProtKB-KW
  • ubiquitin protein ligase activity Source: CACAO
  • ubiquitin-protein transferase activity Source: UniProtKB

GO - Biological processi

<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

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BRENDAi
2.3.2.B9 2681
6.3.2.19 2681

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

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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

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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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000114062.17

Human Gene Nomenclature Database

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HGNCi
HGNC:12496 UBE3A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601623 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q05086

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 mutations 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.
See also OMIM:105830
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_and_biotech_section">'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 mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
7337

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

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GeneReviewsi
UBE3A

MalaCards human disease database

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MalaCardsi
UBE3A
MIMi105830 phenotype

Open Targets

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OpenTargetsi
ENSG00000114062

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

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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

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PharmGKBi
PA37144

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
UBE3A

Domain mapping of disease mutations (DMDM)

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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.<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_processing_section">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

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EPDi
Q05086

MaxQB - The MaxQuant DataBase

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MaxQBi
Q05086

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

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PaxDbi
Q05086

PeptideAtlas

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PeptideAtlasi
Q05086

PRoteomics IDEntifications database

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PRIDEi
Q05086

ProteomicsDB human proteome resource

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ProteomicsDBi
58306
58307 [Q05086-2]
58308 [Q05086-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q05086

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

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PhosphoSitePlusi
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

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Bgeei
ENSG00000114062 Expressed in 245 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q05086 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q05086 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB009723
HPA039410
HPA040380

<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_section">'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_section">'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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113185, 195 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q05086

Database of interacting proteins

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DIPi
DIP-6002N

Protein interaction database and analysis system

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IntActi
Q05086, 171 interactors

Molecular INTeraction database

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MINTi
Q05086

STRING: functional protein association networks

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STRINGi
9606.ENSP00000381045

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q05086

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

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SMRi
Q05086

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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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_and_domains_section">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>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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi394 – 399Asp/Glu-rich (acidic)6

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
COG5021 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155050

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG059326

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q05086

KEGG Orthology (KO)

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KOi
K10587

Identification of Orthologs from Complete Genome Data

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OMAi
KIVYYAN

Database of Orthologous Groups

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OrthoDBi
EOG091G01LV

Database for complete collections of gene phylogenies

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PhylomeDBi
Q05086

TreeFam database of animal gene trees

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TreeFami
TF315189

Family and domain databases

Conserved Domains Database

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CDDi
cd00078 HECTc, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR032353 AZUL
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

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 12 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        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 12 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: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>
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>
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>
A0A0D9SG54A0A0D9SG54_HUMAN
Ubiquitin-protein ligase E3A
UBE3A
77Annotation 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>
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>
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 → Y Probable polymorphism. 1 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 Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782907Ensembl.1
Natural variantiVAR_073198156V → G Common polymorphism; 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 Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782908Ensembl.1
Natural variantiVAR_073204358S → T Common polymorphism; 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 Common polymorphism; 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 Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant dbSNP:rs587782918Ensembl.1
Natural variantiVAR_073213611Q → P Common polymorphism; 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 Common polymorphism; 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 Common polymorphism; 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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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
, X98027, X98022, X98023, X98024, X98025, X98026, X98028, X98029, 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
, AF016703, AF016704, AF016705, AF016706, 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

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.598862

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000232165; ENSP00000232165; ENSG00000114062 [Q05086-2]
ENST00000397954; ENSP00000381045; ENSG00000114062 [Q05086-1]
ENST00000428984; ENSP00000401265; ENSG00000114062 [Q05086-2]
ENST00000438097; ENSP00000411258; ENSG00000114062 [Q05086-2]
ENST00000566215; ENSP00000457771; ENSG00000114062 [Q05086-2]
ENST00000614096; ENSP00000481796; ENSG00000114062 [Q05086-3]
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 [Q05086-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7337

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7337

UCSC genome browser

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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_references_section">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
, X98027, X98022, X98023, X98024, X98025, X98026, X98028, X98029, 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
, AF016703, AF016704, AF016705, AF016706, 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
UniGeneiHs.598862

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[»]
ProteinModelPortaliQ05086
SMRiQ05086
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113185, 195 interactors
CORUMiQ05086
DIPiDIP-6002N
IntActiQ05086, 171 interactors
MINTiQ05086
STRINGi9606.ENSP00000381045

Protein family/group databases

MoonDBiQ05086 Predicted

PTM databases

iPTMnetiQ05086
PhosphoSitePlusiQ05086

Polymorphism and mutation databases

BioMutaiUBE3A
DMDMi215274240

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
7337
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000232165; ENSP00000232165; ENSG00000114062 [Q05086-2]
ENST00000397954; ENSP00000381045; ENSG00000114062 [Q05086-1]
ENST00000428984; ENSP00000401265; ENSG00000114062 [Q05086-2]
ENST00000438097; ENSP00000411258; ENSG00000114062 [Q05086-2]
ENST00000566215; ENSP00000457771; ENSG00000114062 [Q05086-2]
ENST00000614096; ENSP00000481796; ENSG00000114062 [Q05086-3]
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 [Q05086-1]
GeneIDi7337
KEGGihsa:7337
UCSCiuc001zaq.4 human [Q05086-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7337
DisGeNETi7337
EuPathDBiHostDB:ENSG00000114062.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
UBE3A
GeneReviewsiUBE3A
HGNCiHGNC:12496 UBE3A
HPAiCAB009723
HPA039410
HPA040380
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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0941 Eukaryota
COG5021 LUCA
GeneTreeiENSGT00940000155050
HOVERGENiHBG059326
InParanoidiQ05086
KOiK10587
OMAiKIVYYAN
OrthoDBiEOG091G01LV
PhylomeDBiQ05086
TreeFamiTF315189

Enzyme and pathway databases

UniPathwayi
UPA00143

BRENDAi2.3.2.B9 2681
6.3.2.19 2681
ReactomeiR-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SIGNORiQ05086

Miscellaneous databases

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

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GenomeRNAii
7337

Protein Ontology

More...
PROi
PR:Q05086

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000114062 Expressed in 245 organ(s), highest expression level in intestine
ExpressionAtlasiQ05086 baseline and differential
GenevisibleiQ05086 HS

Family and domain databases

CDDicd00078 HECTc, 1 hit
InterProiView protein in InterPro
IPR032353 AZUL
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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_and_isoforms">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: December 5, 2018
This is version 195 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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