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

Gene ID: 22215, updated on 27-May-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 positive regulation of Golgi lumen acidification and regulation of circadian rhythm. Acts upstream of or within several processes, including cellular protein metabolic process; positive regulation of phosphatidylinositol 3-kinase signaling; and reproductive structure development. Located in cytosol and nucleus. Is expressed in central nervous system 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, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 21.0), ovary adult (RPKM 10.5) and 28 other tissues See more
Orthologs
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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 transferase 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 ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin-protein transferase activity ISO
Inferred from Sequence Orthology
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 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 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 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 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
 
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 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 response to progesterone ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within 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
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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)

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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_001033962.2NP_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.