Ube3a Ubiquitin protein ligase E3A [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Ube3aprovided by FlyBase
Official Full Name: Ubiquitin protein ligase E3Aprovided by FlyBase
Primary source: FLYBASE:FBgn0061469
Locus tag: Dmel_CG6190
See related: AllianceGenome:FB:FBgn0061469
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: As; AS; CG6190; das; Dmel\CG6190; dube3a; dube3A; dUbe3a; dUbe3A; dUBE3A; Dube3a; Dube3A; NM_140195.2; ube3a; Ube3A; UBE3A
Summary: Enables ubiquitin protein ligase activity. Involved in several processes, including cellular protein metabolic process; long-term memory; and neuron development. Located in cytosol. Is expressed in several structures, including central nervous system; embryonic cortex; eye disc; gonad; and peripheral nervous system. Used to study Angelman syndrome; autism spectrum disorder; and intellectual disability. 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]
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Genomic context

Location:: 68B1-68B1; 3-35 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3L	NT_037436.4 (11206422..11210583, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3L	NT_037436.3 (11199522..11203683, complement)

Chromosome 3L - NT_037436.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Presynaptic Ube3a E3 ligase promotes synapse elimination through down-regulation of BMP signaling.
Title: Presynaptic Ube3a E3 ligase promotes synapse elimination through down-regulation of BMP signaling.
Transcriptomic and proteomic profiling of glial versus neuronal Dube3a overexpression reveals common molecular changes in gliopathic epilepsies.
Title: Transcriptomic and proteomic profiling of glial versus neuronal Dube3a overexpression reveals common molecular changes in gliopathic epilepsies.
A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster.
Title: A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster.
Drosophila endogenously expresses Dube3a (fly UBE3A homolog) in glial cells and neurons. A robust seizure-like phenotype was observed in flies overexpressing Dube3a in glial cells, but not neurons. Glial-specific knockdown of ATPalpha also produced seizure-like behavior, and this phenotype was rescued by simultaneously overexpressing ATPalpha and Dube3a in glia.
Title: Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na(+)/K(+) pump ATPα.
Negative regulation of Tkv by Ube3a was conserved in mammalian cells. These results reveal a critical role for Ube3a in regulating NMJ synapse development by repressing BMP signaling. This study sheds new light onto the neuronal functions of UBE3A and provides novel perspectives for understanding the pathogenesis of UBE3A-associated disorders.
Title: Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila.
Data indicate that E3 ligase called ube3 (dube3a) is required for brain development as mutants have defective mushroom bodies.
Title: The E3 ligase ube3a is required for learning in Drosophila melanogaster.
Rpn10 is targeted for degradation by Ube3a.
Title: Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle Rpn10.
In Drosophila melanogaster the human homologue ube3a regulates the actin cytoskeleton and neuronal homeostasis.
Title: Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis.
MeCP2 and E6AP play a role in the transcriptional control of common target gene expression.
Title: Ube3a/E6AP is involved in a subset of MeCP2 functions.
Ube3a regulates serotonin and dopamine synthesis in the fly brain by increasing GTP cyclohydrolase I activity.
Title: Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin-protein transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dendrite morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in locomotion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in long-term memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peripheral nervous system neuron development	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 proteasome-mediated ubiquitin-dependent protein catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein polyubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ubiquitin protein ligase E3A

Names: CG6190-PA; Ube3a-PA; Ubiquitin-protein ligase E3A; angelman syndrome; drosophila angelman syndrome; ubiquitin protein ligase 3a

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NT_037436.4 Reference assembly

Range

11206422..11210583 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_140195.4 → NP_648452.1 ubiquitin protein ligase E3A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_648452.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9VTH1

Related

FBpp0075916

Conserved Domains (3) summary

smart00119
Location:647 → 970

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:620 → 971

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:40 → 94

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A