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

Gene ID: 22215, updated on 2-Nov-2024

Summary

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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, Nov 2024]
Expression
Ubiquitous expression in adrenal adult (RPKM 21.0), ovary adult (RPKM 10.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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

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Related articles in PubMed

  1. Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. Daily JL, et al. PLoS One, 2011. PMID 22174738, Free PMC Article
  2. Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome. Riday TT, et al. J Clin Invest, 2012 Dec. PMID 23143301, Free PMC Article
  3. Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice. Born HA, et al. Sci Rep, 2017 Aug 16. PMID 28814801, Free PMC Article
  4. Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models. Farook MF, et al. PLoS One, 2012. PMID 22916201, Free PMC Article
  5. Ube3a deficiency inhibits amyloid plaque formation in APPswe/PS1δE9 mouse model of Alzheimer's disease. Singh BK, et al. Hum Mol Genet, 2017 Oct 15. PMID 29016862

See all (238) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The role of glia in the dysregulation of neuronal spinogenesis in Ube3a-dependent ASD.
    Title: The role of glia in the dysregulation of neuronal spinogenesis in Ube3a-dependent ASD.
  2. mRNA nuclear retention reduces AMPAR expression and promotes autistic behavior in UBE3A-overexpressing mice.
    Title: mRNA nuclear retention reduces AMPAR expression and promotes autistic behavior in UBE3A-overexpressing mice.
  3. Light activates Ube3a, an Angelman syndrome-associated gene, by mediating the chromatin structures during postnatal development of mouse retina.
    Title: Light activates Ube3a, an Angelman syndrome-associated gene, by mediating the chromatin structures during postnatal development of mouse retina.
  4. UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells.
    Title: UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells.
  5. Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice.
    Title: Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice.
  6. IL-1beta turnover by the UBE2L3 ubiquitin conjugating enzyme and HECT E3 ligases limits inflammation.
    Title: IL-1β turnover by the UBE2L3 ubiquitin conjugating enzyme and HECT E3 ligases limits inflammation.
  7. A high-fidelity RNA-targeting Cas13 restores paternal Ube3a expression and improves motor functions in Angelman syndrome mice.
    Title: A high-fidelity RNA-targeting Cas13 restores paternal Ube3a expression and improves motor functions in Angelman syndrome mice.
  8. Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1.
    Title: Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1.
  9. UBE3A deficiency-induced autophagy is associated with activation of AMPK-ULK1 and p53 pathways.
    Title: UBE3A deficiency-induced autophagy is associated with activation of AMPK-ULK1 and p53 pathways.
  10. UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation.
    Title: UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation.
Submit: New GeneRIF Correction See all GeneRIFs (100)

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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)

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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_001033962.2 → NP_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:497 → 847
    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:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  2. NM_001393666.1 → NP_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:518 → 868
    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:27 → 81
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  3. NM_001393668.1 → NP_001380597.1  ubiquitin-protein ligase E3A isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC167971
    UniProtKB/TrEMBL
    Q5DTH1
    Conserved Domains (2) summary
    cd00078
    Location:497 → 847
    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:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  4. NM_001393669.1 → NP_001380598.1  ubiquitin-protein ligase E3A isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC167971
    UniProtKB/TrEMBL
    Q5DTH1
    Conserved Domains (2) summary
    cd00078
    Location:506 → 856
    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:15 → 69
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  5. NM_001393670.1 → NP_001380599.1  ubiquitin-protein ligase E3A isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC167971
    UniProtKB/TrEMBL
    Q5DTH1
    Conserved Domains (2) summary
    cd00078
    Location:506 → 856
    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:15 → 69
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  6. NM_001393671.1 → NP_001380600.1  ubiquitin-protein ligase E3A isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC167971
    UniProtKB/TrEMBL
    Q5DTH1
    Conserved Domains (2) summary
    cd00078
    Location:506 → 856
    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:15 → 69
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  7. NM_001393672.1 → NP_001380601.1  ubiquitin-protein ligase E3A isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC167971
    UniProtKB/TrEMBL
    Q5DTH1
    Conserved Domains (2) summary
    cd00078
    Location:506 → 856
    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:15 → 69
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  8. NM_001393973.1 → NP_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_011668.3 → NP_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:518 → 868
    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:27 → 81
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  10. NM_173010.4 → NP_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:497 → 762
    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:6 → 60
    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_030242374.2 → XP_030098234.1  ubiquitin-protein ligase E3A isoform X4

    UniProtKB/TrEMBL
    Q5DTH1
    Conserved Domains (1) summary
    cd00078
    Location:458 → 808
    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_030242375.1 → XP_030098235.1  ubiquitin-protein ligase E3A isoform X4

    UniProtKB/TrEMBL
    Q5DTH1
    Conserved Domains (1) summary
    cd00078
    Location:458 → 808
    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_030242373.1 → XP_030098233.1  ubiquitin-protein ligase E3A isoform X4

    UniProtKB/TrEMBL
    Q5DTH1
    Conserved Domains (1) summary
    cd00078
    Location:458 → 808
    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_030242372.2 → XP_030098232.1  ubiquitin-protein ligase E3A isoform X3

    UniProtKB/TrEMBL
    Q5DTH1
    Conserved Domains (2) summary
    cd00078
    Location:497 → 847
    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:6 → 60
    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.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O08759.2 GenPept UniProtKB/Swiss-Prot:O08759

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