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

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, 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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (7) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-52105 (e-PCR)
- UniSTS:17922

D21S1734E (e-PCR)
- UniSTS:150787

AU017677 (e-PCR)
- UniSTS:208135

G67875 (e-PCR)
- UniSTS:225595

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Ube3a (e-PCR), detects polymorphism
- UniSTS:547478

Ube3a (e-PCR), detects polymorphism
- UniSTS:547479

Ube3a (e-PCR), detects polymorphism
- UniSTS:275877

Ube3a (e-PCR), detects polymorphism
- UniSTS:275878

D21S1716E (e-PCR)
- UniSTS:150773

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

EC 2.3.2.26

NP_001380595.1

EC 2.3.2.26

NP_001380597.1

EC 2.3.2.26

NP_001380598.1

EC 2.3.2.26

NP_001380599.1

EC 2.3.2.26

NP_001380600.1

EC 2.3.2.26

NP_001380601.1

EC 2.3.2.26

NP_001380902.1

EC 2.3.2.26

NP_035798.2

EC 2.3.2.26

NP_766598.1

EC 2.3.2.26

XP_030098232.1

EC 2.3.2.26

XP_030098233.1

EC 2.3.2.26

XP_030098234.1

EC 2.3.2.26

XP_030098235.1

EC 2.3.2.26

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)

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
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
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
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
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
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
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
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
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
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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

58871891..58960585

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...
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