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    UBE3A ubiquitin protein ligase E3A [ Homo sapiens (human) ]

    Gene ID: 7337, updated on 8-Oct-2018

    Summary

    Official Symbol
    UBE3Aprovided by HGNC
    Official Full Name
    ubiquitin protein ligase E3Aprovided by HGNC
    Primary source
    HGNC:HGNC:12496
    See related
    Ensembl:ENSG00000114062 MIM:601623; Vega:OTTHUMG00000171548
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AS; ANCR; E6-AP; HPVE6A; EPVE6AP
    Summary
    This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 14.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See UBE3A in Genome Data Viewer
    Location:
    15q11.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (25337234..25439381, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (25582394..25684190, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 14 Neighboring gene small nucleolar RNA, C/D box 115-48 Neighboring gene small nucleolar RNA, C/D box 109B Neighboring gene long intergenic non-protein coding RNA 2250 Neighboring gene uncharacterized LOC107984789 Neighboring gene ATPase phospholipid transporting 10A (putative) Neighboring gene RNA, 5S ribosomal pseudogene 390

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Angelman syndrome
    MedGen: C0162635 OMIM: 105830 GeneReviews: Angelman Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-08-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-23)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
      Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
      Coregulation of Androgen receptor activity, organism-specific biosystem
      Coregulation of Androgen receptor activity
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
      MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • Tryptophan metabolism, organism-specific biosystem (from WikiPathways)
      Tryptophan metabolism, organism-specific biosystem
      Tryptophan metabolism
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Viral carcinogenesis, organism-specific biosystem (from KEGG)
      Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • Viral carcinogenesis, conserved biosystem (from KEGG)
      Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ26981

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    progesterone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to progesterone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    proteasome complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ubiquitin-protein ligase E3A
    Names
    CTCL tumor antigen se37-2
    E6AP ubiquitin-protein ligase
    HECT-type ubiquitin transferase E3A
    human papilloma virus E6-associated protein
    human papillomavirus E6-associated protein
    oncogenic protein-associated protein E6-AP
    renal carcinoma antigen NY-REN-54
    NP_000453.2
    NP_001341434.1
    NP_001341435.1
    NP_001341436.1
    NP_001341437.1
    NP_001341438.1
    NP_001341440.1
    NP_001341441.1
    NP_001341442.1
    NP_001341452.1
    NP_001341455.1
    NP_001341467.1
    NP_001341468.1
    NP_001341469.1
    NP_001341470.1
    NP_001341471.1
    NP_001341472.1
    NP_001341473.1
    NP_001341474.1
    NP_001341475.1
    NP_001341476.1
    NP_001341477.1
    NP_001341478.1
    NP_001341479.1
    NP_001341480.1
    NP_570853.1
    NP_570854.1
    XP_011520297.1
    XP_016878036.1
    XP_016878037.1
    XP_016878039.1
    XP_016878045.1
    XP_024305811.1
    XP_024305812.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_002690.1 

      Range
      556325..658147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    2. NG_009268.1 RefSeqGene

      Range
      4954..106733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_15

    mRNA and Protein(s)

    1. NM_000462.5NP_000453.2  ubiquitin-protein ligase E3A isoform 2

      See identical proteins and their annotated locations for NP_000453.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2).
      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS45192.1
      UniProtKB/Swiss-Prot
      Q05086
      Related
      ENSP00000497594.1, OTTHUMP00000255338, ENST00000650110.1
      Conserved Domains (2) summary
      cd00078
      Location:523873
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2983
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    2. NM_001354505.1NP_001341434.1  ubiquitin-protein ligase E3A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS45191.1
      Conserved Domains (2) summary
      cd00078
      Location:520870
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2680
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    3. NM_001354506.1NP_001341435.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Related
      ENSP00000401265.2, ENST00000428984.6
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    4. NM_001354507.1NP_001341436.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    5. NM_001354508.1NP_001341437.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Related
      ENSP00000486349.1, ENST00000630424.2
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    6. NM_001354509.1NP_001341438.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, DA807801, U84404
      Consensus CDS
      CCDS32177.1
      Related
      ENSP00000457771.1, ENST00000566215.5
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    7. NM_001354511.1NP_001341440.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    8. NM_001354512.1NP_001341441.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    9. NM_001354513.1NP_001341442.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    10. NM_001354523.1NP_001341452.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS86436.1
      Related
      ENSP00000490111.1, ENST00000638011.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    11. NM_001354526.1NP_001341455.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    12. NM_001354538.1NP_001341467.1  ubiquitin-protein ligase E3A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS45191.1
      Related
      ENSP00000490258.1, ENST00000637886.1
      Conserved Domains (2) summary
      cd00078
      Location:520870
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2680
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    13. NM_001354539.1NP_001341468.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    14. NM_001354540.1NP_001341469.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    15. NM_001354541.1NP_001341470.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    16. NM_001354542.1NP_001341471.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    17. NM_001354543.1NP_001341472.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Related
      ENSP00000490557.1, ENST00000638155.1
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    18. NM_001354544.1NP_001341473.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      Related
      ENSP00000411258.1, ENST00000438097.6
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    19. NM_001354545.1NP_001341474.1  ubiquitin-protein ligase E3A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Conserved Domains (2) summary
      cd00078
      Location:520818
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2680
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    20. NM_001354546.1NP_001341475.1  ubiquitin-protein ligase E3A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Conserved Domains (1) summary
      cd00078
      Location:461811
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    21. NM_001354547.1NP_001341476.1  ubiquitin-protein ligase E3A isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Conserved Domains (2) summary
      cd00078
      Location:500798
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    22. NM_001354548.1NP_001341477.1  ubiquitin-protein ligase E3A isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Conserved Domains (2) summary
      cd00078
      Location:500798
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    23. NM_001354549.1NP_001341478.1  ubiquitin-protein ligase E3A isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Conserved Domains (2) summary
      cd00078
      Location:500795
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    24. NM_001354550.1NP_001341479.1  ubiquitin-protein ligase E3A isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Conserved Domains (2) summary
      cd00078
      Location:121453
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2680
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    25. NM_001354551.1NP_001341480.1  ubiquitin-protein ligase E3A isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Conserved Domains (2) summary
      cd00078
      Location:101433
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    26. NM_130838.3NP_570853.1  ubiquitin-protein ligase E3A isoform 1

      See identical proteins and their annotated locations for NP_570853.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses a downstream in-frame start codon, as compared to variant 2. The encoded isoform (1) is shorter than isoform 2.
      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/Swiss-Prot
      Q05086
      UniProtKB/TrEMBL
      Q9H2G0
      Related
      ENSP00000232165.5, ENST00000232165.7
      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    27. NM_130839.4NP_570854.1  ubiquitin-protein ligase E3A isoform 3

      See identical proteins and their annotated locations for NP_570854.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and uses an alternate start codon compared to variant 2. The encoded isoform (3) has a distinct N-terminus and is 3 and is shorter than isoform 2.
      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS45191.1
      UniProtKB/Swiss-Prot
      Q05086
      Related
      ENSP00000497572.1, OTTHUMP00000246395, ENST00000648336.1
      Conserved Domains (2) summary
      cd00078
      Location:520870
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2680
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

    RNA

    1. NR_148916.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      25337234..25439381 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022556.2XP_016878045.1  ubiquitin-protein ligase E3A isoform X4

    2. XM_017022548.2XP_016878037.1  ubiquitin-protein ligase E3A isoform X2

      UniProtKB/Swiss-Prot
      Q05086
      Conserved Domains (2) summary
      cd00078
      Location:520870
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2680
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    3. XM_017022547.2XP_016878036.1  ubiquitin-protein ligase E3A isoform X2

      UniProtKB/Swiss-Prot
      Q05086
      Conserved Domains (2) summary
      cd00078
      Location:520870
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2680
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    4. XM_024450044.1XP_024305812.1  ubiquitin-protein ligase E3A isoform X3

      Conserved Domains (2) summary
      cd00078
      Location:500850
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:660
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    5. XM_011521995.3XP_011520297.1  ubiquitin-protein ligase E3A isoform X1

      See identical proteins and their annotated locations for XP_011520297.1

      UniProtKB/Swiss-Prot
      Q05086
      Conserved Domains (2) summary
      cd00078
      Location:523873
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2983
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    6. XM_017022550.2XP_016878039.1  ubiquitin-protein ligase E3A isoform X2

      UniProtKB/Swiss-Prot
      Q05086
      Conserved Domains (2) summary
      cd00078
      Location:520870
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2680
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    7. XM_024450043.1XP_024305811.1  ubiquitin-protein ligase E3A isoform X1

      Conserved Domains (2) summary
      cd00078
      Location:523873
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      pfam16558
      Location:2983
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
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