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

    Gene ID: 7337, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:12496
    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; PIX1; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UBE3A in Genome Data Viewer
    Location:
    15q11.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (25333728..25439056, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (23070379..23175682, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (25578875..25684203, 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 Sharpr-MPRA regulatory region 5757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr15:25683287-25684232 and GRCh37_chr15:25684233-25685178 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:25726194-25726733 Neighboring gene Sharpr-MPRA regulatory region 718 Neighboring gene long intergenic non-protein coding RNA 2250 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:25789643-25790842 Neighboring gene uncharacterized LOC107984789 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:25808594-25809158 Neighboring gene uncharacterized LOC124903448

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ26981

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in androgen receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to brain-derived neurotrophic factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of TORC1 signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of dendritic spine morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Golgi lumen acidification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in progesterone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in prostate gland growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to progesterone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sperm entry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    part_of proteasome complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic vesicle 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_001361390.1
    NP_570853.1
    NP_570854.1
    XP_011520297.1
    XP_016878036.1
    XP_016878037.1
    XP_016878039.1
    XP_024305811.1
    XP_047288963.1
    XP_047288964.1
    XP_047288965.1
    XP_047288966.1
    XP_047288967.1
    XP_047288968.1
    XP_047288969.1
    XP_047288970.1
    XP_047288971.1
    XP_047288972.1
    XP_047288973.1
    XP_047288974.1
    XP_047288975.1
    XP_047288976.1
    XP_047288977.1
    XP_054234720.1
    XP_054234721.1
    XP_054234722.1
    XP_054234723.1
    XP_054234724.1
    XP_054234725.1
    XP_054234726.1
    XP_054234727.1
    XP_054234728.1
    XP_054234729.1
    XP_054234730.1
    XP_054234731.1
    XP_054234732.1
    XP_054234733.1
    XP_054234734.1
    XP_054234735.1
    XP_054234736.1
    XP_054234737.1
    XP_054234738.1
    XP_054234739.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009268.1 RefSeqGene

      Range
      38476..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
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
      UniProtKB/TrEMBL
      Q9BUI6
      Related
      ENSP00000497594.1, 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
      UniProtKB/TrEMBL
      Q9BUI6
      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_001354506.2NP_001341435.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354507.2NP_001341436.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354508.2NP_001341437.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354509.2NP_001341438.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, DA807801, U84404
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354511.2NP_001341440.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354512.2NP_001341441.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354513.2NP_001341442.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354523.2NP_001341452.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS86436.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354538.2NP_001341467.1  ubiquitin-protein ligase E3A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS45191.1
      UniProtKB/TrEMBL
      Q9BUI6
      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_001354539.2NP_001341468.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354540.2NP_001341469.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354541.2NP_001341470.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354542.2NP_001341471.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354543.2NP_001341472.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354544.2NP_001341473.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_001354545.2NP_001341474.1  ubiquitin-protein ligase E3A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      UniProtKB/TrEMBL
      Q9BUI6
      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_001354546.2NP_001341475.1  ubiquitin-protein ligase E3A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS91966.1
      UniProtKB/TrEMBL
      A0A6Q8PHE5, Q5W7F7
      Related
      ENSP00000502703.1, ENST00000675177.1
      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_001354547.2NP_001341476.1  ubiquitin-protein ligase E3A isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      UniProtKB/TrEMBL
      Q5W7F7
      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_001354548.2NP_001341477.1  ubiquitin-protein ligase E3A isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      UniProtKB/TrEMBL
      Q5W7F7
      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_001354549.2NP_001341478.1  ubiquitin-protein ligase E3A isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      UniProtKB/TrEMBL
      Q5W7F7
      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_001354550.2NP_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_001354551.2NP_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_001374461.1NP_001361390.1  ubiquitin-protein ligase E3A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997
      Consensus CDS
      CCDS32177.1
      UniProtKB/TrEMBL
      Q5W7F7, Q9H2G0
      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_130838.4NP_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/TrEMBL
      Q5W7F7, Q9H2G0
      Related
      ENSP00000497549.1, ENST00000649550.1
      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
    28. NM_130839.5NP_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, AK292514, BC002582
      Consensus CDS
      CCDS45191.1
      UniProtKB/TrEMBL
      Q9BUI6
      Related
      ENSP00000497572.2, ENST00000648336.2
      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_148916.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC100774, AC124997

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      25333728..25439056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022548.3XP_016878037.1  ubiquitin-protein ligase E3A isoform X2

      UniProtKB/TrEMBL
      Q9BUI6
      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
    2. XM_017022547.3XP_016878036.1  ubiquitin-protein ligase E3A isoform X2

      UniProtKB/TrEMBL
      Q9BUI6
      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_047433008.1XP_047288964.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    4. XM_011521995.4XP_011520297.1  ubiquitin-protein ligase E3A isoform X1

      See identical proteins and their annotated locations for XP_011520297.1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
      UniProtKB/TrEMBL
      Q9BUI6
      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
    5. XM_047433015.1XP_047288971.1  ubiquitin-protein ligase E3A isoform X2

    6. XM_017022550.3XP_016878039.1  ubiquitin-protein ligase E3A isoform X2

      UniProtKB/TrEMBL
      Q9BUI6
      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_047433009.1XP_047288965.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    8. XM_047433019.1XP_047288975.1  ubiquitin-protein ligase E3A isoform X3

      UniProtKB/TrEMBL
      Q9H2G0
    9. XM_047433021.1XP_047288977.1  ubiquitin-protein ligase E3A isoform X5

    10. XM_047433010.1XP_047288966.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    11. XM_047433014.1XP_047288970.1  ubiquitin-protein ligase E3A isoform X2

    12. XM_047433012.1XP_047288968.1  ubiquitin-protein ligase E3A isoform X2

    13. XM_047433013.1XP_047288969.1  ubiquitin-protein ligase E3A isoform X2

    14. XM_024450043.2XP_024305811.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
      UniProtKB/TrEMBL
      Q9BUI6
      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
    15. XM_047433018.1XP_047288974.1  ubiquitin-protein ligase E3A isoform X3

      UniProtKB/TrEMBL
      Q9H2G0
    16. XM_047433011.1XP_047288967.1  ubiquitin-protein ligase E3A isoform X2

    17. XM_047433017.1XP_047288973.1  ubiquitin-protein ligase E3A isoform X3

      UniProtKB/TrEMBL
      Q9H2G0
    18. XM_047433020.1XP_047288976.1  ubiquitin-protein ligase E3A isoform X4

    19. XM_047433007.1XP_047288963.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    20. XM_047433016.1XP_047288972.1  ubiquitin-protein ligase E3A isoform X3

      UniProtKB/TrEMBL
      Q9H2G0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      23070379..23175682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378754.1XP_054234729.1  ubiquitin-protein ligase E3A isoform X2

    2. XM_054378751.1XP_054234726.1  ubiquitin-protein ligase E3A isoform X2

    3. XM_054378749.1XP_054234724.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    4. XM_054378747.1XP_054234722.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    5. XM_054378757.1XP_054234732.1  ubiquitin-protein ligase E3A isoform X2

    6. XM_054378758.1XP_054234733.1  ubiquitin-protein ligase E3A isoform X2

    7. XM_054378762.1XP_054234737.1  ubiquitin-protein ligase E3A isoform X3

      UniProtKB/TrEMBL
      Q9H2G0
    8. XM_054378764.1XP_054234739.1  ubiquitin-protein ligase E3A isoform X5

    9. XM_054378750.1XP_054234725.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    10. XM_054378756.1XP_054234731.1  ubiquitin-protein ligase E3A isoform X2

    11. XM_054378753.1XP_054234728.1  ubiquitin-protein ligase E3A isoform X2

    12. XM_054378748.1XP_054234723.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    13. XM_054378755.1XP_054234730.1  ubiquitin-protein ligase E3A isoform X2

    14. XM_054378746.1XP_054234721.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    15. XM_054378761.1XP_054234736.1  ubiquitin-protein ligase E3A isoform X3

      UniProtKB/TrEMBL
      Q9H2G0
    16. XM_054378752.1XP_054234727.1  ubiquitin-protein ligase E3A isoform X2

    17. XM_054378760.1XP_054234735.1  ubiquitin-protein ligase E3A isoform X3

      UniProtKB/TrEMBL
      Q9H2G0
    18. XM_054378763.1XP_054234738.1  ubiquitin-protein ligase E3A isoform X4

    19. XM_054378745.1XP_054234720.1  ubiquitin-protein ligase E3A isoform X1

      UniProtKB/Swiss-Prot
      A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    20. XM_054378759.1XP_054234734.1  ubiquitin-protein ligase E3A isoform X3

      UniProtKB/TrEMBL
      Q9H2G0