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    Ube3a ubiquitin protein ligase E3A [ Mus musculus (house mouse) ]

    Gene ID: 22215, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ube3aprovided by MGI
    Official Full Name
    ubiquitin protein ligase E3Aprovided by MGI
    Primary source
    MGI:MGI:105098
    See related
    Ensembl:ENSMUSG00000025326 AllianceGenome:MGI:105098
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hpve6a; 4732496B02; 5830462N02Rik; A130086L21Rik
    Summary
    Enables transcription coactivator activity and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of TORC1 signaling; positive regulation of Golgi lumen acidification; and proteasome-mediated ubiquitin-dependent protein catabolic process. Acts upstream of or within several processes, including androgen receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and reproductive structure development. Located in cytosol and nucleus. Is active in glutamatergic synapse; postsynaptic cytosol; and synaptic vesicle. Is expressed in several structures, including central nervous system; radius; and retina. Used to study Angelman syndrome. Human ortholog(s) of this gene implicated in Angelman syndrome. Orthologous to human UBE3A (ubiquitin protein ligase E3A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 21.0), ovary adult (RPKM 10.5) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ube3a in Genome Data Viewer
    Location:
    7 B5; 7 33.95 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (58871891..58960585)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (59228750..59310837)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_18990 Neighboring gene predicted gene 9375 Neighboring gene STARR-seq mESC enhancer starr_18991 Neighboring gene high mobility group box 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_18992 Neighboring gene small nucleolar RNA host gene 14 Neighboring gene predicted gene, 25499 Neighboring gene predicted gene, 57512

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA4216

    Gene Ontology Provided by MGI

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin-protein transferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within androgen receptor signaling pathway IPI
    Inferred from Physical Interaction
    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 locomotory exploration behavior ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in modulation of chemical synaptic transmission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in modulation of chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in motor learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor learning ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of dendritic spine morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of dendritic spine morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within ovarian follicle development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Golgi lumen acidification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Golgi lumen acidification ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in progesterone receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in progesterone receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within prostate gland growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein K48-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein K48-linked ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein autoubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein autoubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of circadian rhythm ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of synaptic plasticity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to progesterone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within sperm entry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of proteasome complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synaptic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ubiquitin-protein ligase E3A
    Names
    E6-AP ubiquitin protein ligase
    HECT-type ubiquitin transferase E3A
    oncogenic protein-associated protein E6-AP
    ubiquitin conjugating enzyme E3A
    NP_001029134.1
    NP_001380595.1
    NP_001380597.1
    NP_001380598.1
    NP_001380599.1
    NP_001380600.1
    NP_001380601.1
    NP_001380902.1
    NP_035798.2
    NP_766598.1
    XP_030098232.1
    XP_030098233.1
    XP_030098234.1
    XP_030098235.1

    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.

    mRNA and Protein(s)

    1. NM_001033962.2NP_001029134.1  ubiquitin-protein ligase E3A isoform 3

      See identical proteins and their annotated locations for NP_001029134.1

      Status: VALIDATED

      Source sequence(s)
      AC167971, AK029133, AK220549, BC094605, CJ125878
      Consensus CDS
      CCDS80733.1
      UniProtKB/TrEMBL
      Q5DTH1
      Related
      ENSMUSP00000103161.3, ENSMUST00000107537.5
      Conserved Domains (2) summary
      cd00078
      Location:497847
      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
    2. NM_001393666.1NP_001380595.1  ubiquitin-protein ligase E3A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC167971
      UniProtKB/Swiss-Prot
      E9QKT1, O08759, P97482, Q8CE29
      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (2) summary
      cd00078
      Location:518868
      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:2781
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    3. NM_001393668.1NP_001380597.1  ubiquitin-protein ligase E3A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC167971
      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (2) summary
      cd00078
      Location:497847
      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_001393669.1NP_001380598.1  ubiquitin-protein ligase E3A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC167971
      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (2) summary
      cd00078
      Location:506856
      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:1569
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    5. NM_001393670.1NP_001380599.1  ubiquitin-protein ligase E3A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC167971
      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (2) summary
      cd00078
      Location:506856
      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:1569
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    6. NM_001393671.1NP_001380600.1  ubiquitin-protein ligase E3A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC167971
      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (2) summary
      cd00078
      Location:506856
      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:1569
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    7. NM_001393672.1NP_001380601.1  ubiquitin-protein ligase E3A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC167971
      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (2) summary
      cd00078
      Location:506856
      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:1569
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    8. NM_001393973.1NP_001380902.1  ubiquitin-protein ligase E3A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC167971
      UniProtKB/Swiss-Prot
      E9QKT1, O08759, P97482, Q8CE29
      UniProtKB/TrEMBL
      Q5DTH1
    9. NM_011668.3NP_035798.2  ubiquitin-protein ligase E3A isoform 2

      See identical proteins and their annotated locations for NP_035798.2

      Status: VALIDATED

      Source sequence(s)
      AC167971, AK029133, AK220549, BC094605, CD352481, CJ125878
      Consensus CDS
      CCDS39973.1
      UniProtKB/Swiss-Prot
      E9QKT1, O08759, P97482, Q8CE29
      UniProtKB/TrEMBL
      Q5DTH1
      Related
      ENSMUSP00000143859.2, ENSMUST00000200758.4
      Conserved Domains (2) summary
      cd00078
      Location:518868
      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:2781
      AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
    10. NM_173010.4NP_766598.1  ubiquitin-protein ligase E3A isoform 1

      See identical proteins and their annotated locations for NP_766598.1

      Status: VALIDATED

      Source sequence(s)
      AC167971
      UniProtKB/TrEMBL
      Q5DTH1
      Related
      ENSMUSP00000143962.2, ENSMUST00000202945.4
      Conserved Domains (2) summary
      cd00078
      Location:497762
      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

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      58871891..58960585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242374.2XP_030098234.1  ubiquitin-protein ligase E3A isoform X4

      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (1) summary
      cd00078
      Location:458808
      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 ...
    2. XM_030242375.1XP_030098235.1  ubiquitin-protein ligase E3A isoform X4

      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (1) summary
      cd00078
      Location:458808
      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 ...
    3. XM_030242373.1XP_030098233.1  ubiquitin-protein ligase E3A isoform X4

      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (1) summary
      cd00078
      Location:458808
      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 ...
    4. XM_030242372.2XP_030098232.1  ubiquitin-protein ligase E3A isoform X3

      UniProtKB/TrEMBL
      Q5DTH1
      Conserved Domains (2) summary
      cd00078
      Location:497847
      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

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001393667.1: Suppressed sequence

      Description
      NM_001393667.1: This RefSeq was removed because it was made for testing purposes.