FlyBase Gene Report: Dmel\Ube3a

General Information

Symbol

Dmel\Ube3a

Species

D. melanogaster

Name

Ubiquitin protein ligase E3A

Annotation Symbol

CG6190

Feature Type

protein_coding_gene

FlyBase ID

FBgn0061469

Gene Model Status

Current

Stock Availability

16 publicly available

Gene Summary

Ubiquitin protein ligase E3A (Ube3a) encodes the founding member of the HECT-type ubiquitin E3 ligase family of enzymes. It is involved in the final step of conjugation of ubiquitin to its target substrates. It regulates protein degradation by targeting modified proteins to the proteasome or by regulating the proteasome activity through ubiquitination of its subunits, which in turn affects many aspects of neuronal function, such as synaptic plasticity, long-term memory or dendritic development. [Date last reviewed: 2019-02-28] (FlyBase Gene Snapshot)

All Summaries

Gene Snapshot
Alliance
Auto summary
Pathway
Gene Group
Interactive Fly

Also Known As

Dube3a, Angelman syndrome, As, das, Drosophila Angelman syndrome

Key Links

Genomic Location

Cytogenetic map

68B1-68B1

Sequence location

3L:11,206,422..11,210,583 [-]

Recombination map

3-35

RefSeq locus

NT_037436 REGION:11206422..11210583

Sequence

Get Decorated FASTA

Genomic Maps

JBrowse GBrowse

Help me choose

Other Genome Views

The following external sites may use different assemblies or annotations than FlyBase.

Function

GO Summary Ribbons

Gene Ontology (GO) Annotations (14 terms)

Molecular Function (1 term)

Terms Based on Experimental Evidence (1 term)

CV Term

Evidence

References

enables ubiquitin protein ligase activity

inferred from mutant phenotype

(Lee et al., 2014)

inferred from direct assay

(Li et al., 2016)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

enables ubiquitin protein ligase activity

inferred from biological aspect of ancestor with PANTHER:PTN005213447

(assigned by GO_Central )

(Gaudet et al., 2011)

Biological Process (11 terms)

Terms Based on Experimental Evidence (10 terms)

CV Term

Evidence

References

involved_in circadian rhythm

inferred from mutant phenotype

(Wu et al., 2008)

involved_in dendrite morphogenesis

inferred from mutant phenotype

(Lu et al., 2009)

involved_in locomotion

inferred from mutant phenotype

(Wu et al., 2008)

involved_in long-term memory

inferred from mutant phenotype

(Wu et al., 2008)

involved_in negative regulation of BMP signaling pathway

inferred from mutant phenotype

(Li et al., 2016)

inferred from genetic interaction with FLYBASE:tkv; FB:FBgn0003716

(Li et al., 2016)

inferred from genetic interaction with FLYBASE:Mad; FB:FBgn0011648

(Li et al., 2016)

involved_in negative regulation of synaptic assembly at neuromuscular junction

inferred from mutant phenotype

(Li et al., 2016)

involved_in peripheral nervous system neuron development

inferred from mutant phenotype

(Lu et al., 2009)

involved_in proteasome-mediated ubiquitin-dependent protein catabolic process

inferred from genetic interaction with FLYBASE:Rpn10; FB:FBgn0015283

(Lee et al., 2014)

inferred from direct assay

(Li et al., 2016)

involved_in protein polyubiquitination

inferred from mutant phenotype

(Lee et al., 2014)

involved_in ubiquitin-dependent protein catabolic process

inferred from mutant phenotype

(Lee et al., 2014)

Terms Based on Predictions or Assertions (2 terms)

CV Term

Evidence

References

involved_in protein polyubiquitination

inferred from biological aspect of ancestor with PANTHER:PTN000882491

(assigned by GO_Central )

(Gaudet et al., 2011)

involved_in regulation of ubiquitin-dependent protein catabolic process

inferred from biological aspect of ancestor with PANTHER:PTN000882491

(assigned by GO_Central )

(Gaudet et al., 2011)

Cellular Component (2 terms)

Terms Based on Experimental Evidence (2 terms)

CV Term

Evidence

References

located_in cytoplasm

inferred from direct assay

(Wu et al., 2008)

located_in cytosol

inferred from direct assay

(Li et al., 2016)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

is_active_in cytosol

inferred from biological aspect of ancestor with PANTHER:PTN000882491

(assigned by GO_Central )

(Gaudet et al., 2011)

Gene Group (FlyBase)

HECT UBIQUITIN LIGASES

Pathway (FlyBase)

Negative Regulators of BMP Signaling Pathway

Protein Family (UniProt)

Protein Signatures (InterPro)

Summaries

Gene Snapshot

Gene Group (FlyBase)

HECT UBIQUITIN LIGASES -: E3 (ubiquitin) ligases interact with both ubiquitin-E2 (ubiquitin-conjugating) enzymes and the target protein, transferring the ubiquitin from the E2 to the substrate. Members of the HECT family of E3 ubiquitin ligases are characterized by a C-terminal HECT domain. This catalytic domain forms an intermediate thioester bond with ubiquitin via a conserved Cys when transferring ubiquitin from the E2 to the target protein. (Adapted from FBrf0225009).

Pathway (FlyBase)

Negative Regulators of BMP Signaling Pathway -: Negative regulators of Bone Morphogenetic Protein (BMP) signaling down-regulate the pathway, ultimately resulting in the decreased nuclear activity of the Mad/Med transcription factor complex.

Summary (Interactive Fly)

Ubiquitination - protein degradation - model for Angelman syndrome - neuromuscular junction - regulation of the actin cytoskeleton, the formation of terminal dendritic branches, and dopamine/serotonin synthesis

Interactive Fly

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the JBrowse view of Dmel\Ube3a for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)

Isoform displayed:

Pfam protein domains

InterPro name

classification

start

end

Protein Domains (via SMART)

Isoform displayed:

SMART protein domains

InterPro name

classification

start

end

Structure New Section

Protein 3D structure (Predicted by AlphaFold) (AlphaFold entry Q9VTH1)

If you don't see the viewer to the right, refresh your browser.

Model Confidence:

Very high (pLDDT > 90)
Confident (90 > pLDDT > 70)
Low (70 > pLDDT > 50)
Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Comments on Gene Model

Gene model reviewed during 5.45

Sequence Ontology: Class of Gene

nuclear_gene

protein_coding_gene

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

Ube3a-RA

FBtr0076186

NM_140195

3674

973

Additional Transcript Data and Comments

Reported size (kB)

Comments

External Data

Crossreferences

Polypeptide Data

Annotated Polypeptides

Name

FlyBase ID

Predicted MW (kDa)

Length (aa)

Theoretical pI

UniProt

RefSeq ID

GenBank

Ube3a-PA

FBpp0075916

107.6

973

4.40

Q9VTH1

NP_648452

AAF50078

Polypeptides with Identical Sequences

There is only one protein coding transcript and one polypeptide associated with this gene

Additional Polypeptide Data and Comments

Reported size (kDa)

Comments

External Data

Crossreferences

InterPro - A database of protein families, domains and functional sites

Linkouts

Sequences Consistent with the Gene Model

Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\Ube3a using the Feature Mapper tool.

External Data

Crossreferences

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

Ube3a_1

Linkouts

Expression Data

Expression Summary Ribbons

Colored tiles in ribbon indicate that the Fly Cell Atlas project found the gene expressed in that cell type. Darker colors mean that more cells of that cell type express the gene:

low

high

Colorless tiles indicate that there is no scRNAseq data for the gene in that cell type.

Colored tiles in ribbon indicate that expression data (RNA and/or protein) has been curated by FlyBase for that anatomical location. Colorless tiles indicate that there is no curated data for that location.

Colored tiles in the ribbon indicate the average RNA expression level of the gene at the indicated stages:

low

high

as determined by RNA-seq (RPKM) using whole organism samples modENCODE, Brown et al., 2014. For complete stage-specific expression data, view the modENCODE Development RNA-Seq section under High-Throughput Expression below.

Transcript Expression

in situ

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage 1 -- 3

organism

Comment: maternally deposited

(Fisher et al., 2012)

embryonic stage 4 -- 6

organism

(Fisher et al., 2012)

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

immunolocalization

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage

organism | ubiquitous

(Wu et al., 2008)

embryonic stage 1 -- 5

embryonic cortex | ubiquitous

(Wu et al., 2008)

larval stage

organism | ubiquitous

(Wu et al., 2008)

third instar larval stage

larval ventral nerve cord

(Li et al., 2016)

embryonic/larval motor neuron of larval ventral nerve cord

(Li et al., 2016)

interneuron of larval ventral nerve cord

(Li et al., 2016)

neuromuscular junction

• presynapse

(Li et al., 2016)

oogenesis & adult stage | female

ovary

(Li et al., 2016)

spermatogenesis & adult stage | male

testis

(Li et al., 2016)

western blot

Stage

Tissue/Position (including subcellular localization)

Reference

third instar larval stage

eye disc

(Wu et al., 2008)

Additional Descriptive Data

Ube3a protein is broadly expressed, and mainly localized to the cytoplasm. Expression at post-embryonic stages is insufficiently robust to detect using immunocytochemistry. Ube3a protein is ubiquitously expressed in third star larvae, and is cytoplasmically localized. In the larval ventral nerve cord and brain , Ube3a protein expression is elevated in neuroblasts that are too young to express elav protein. Ube3a protein is expressed broadly in the adult brain, with particularly high levels in the mushroom bodies.

(Wu et al., 2008)

Marker for

Subcellular Localization

CV Term

Evidence

References

located_in cytoplasm

inferred from direct assay

(Wu et al., 2008)

located_in cytosol

inferred from direct assay

(Li et al., 2016)

Expression Deduced from Reporters

Reporter: P{Ube3a.6myc}

Stage

Tissue/Position (including subcellular localization)

Reference

third instar larval stage

thoracic neuroblast

(Wu et al., 2008)

abdominal neuroblast

(Wu et al., 2008)

neuroblast of embryonic/larval brain

(Wu et al., 2008)

wandering third instar larval stage

eye disc

(Wu et al., 2008)

adult stage

gustatory receptor neuron of the labellum | subset

(Zhang et al., 2013)

adult brain

(Wu et al., 2008)

adult mushroom body

(Wu et al., 2008)

Reporter: P{Ube3a.gfp}

Stage

Tissue/Position (including subcellular localization)

Reference

third instar larval stage

thoracic neuroblast

(Wu et al., 2008)

abdominal neuroblast

(Wu et al., 2008)

neuroblast of embryonic/larval brain

(Wu et al., 2008)

wandering third instar larval stage

(Wu et al., 2008)

(Wu et al., 2008)

(Wu et al., 2008)

High-Throughput Expression Data

Associated Tools

GBrowse - Visual display of RNA-Seq signals

View Dmel\Ube3a in GBrowse 2

RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region

View exonic expression by developmental stage for Dmel\Ube3a

View exonic expression by tissue for Dmel\Ube3a

Bulk Downloads

RNA-Seq RPKM values for all genes

Reference

See Gelbart and Emmert, 2013 for analysis details and data files for all genes.

Developmental Proteome: Life Cycle

Developmental Proteome: Embryogenesis

External Data and Images

Linkouts

BDGP expression data - Patterns of gene expression in Drosophila embryogenesis

FBgn0061469

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

39266/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0061469

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0061469

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0061469

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG6190

Flygut - An atlas of the Drosophila adult midgut

FBgn0061469

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 16 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 28 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of Ube3a

Transgenic constructs containing regulatory region of Ube3a

Aberrations (Deficiencies and Duplications) ( 4 )

Inferred from experimentation ( 4 )

Gene partially disrupted in

(Lu et al., 2009)

(Lu et al., 2009)

(Lu et al., 2009)

(Wu et al., 2008, Wu et al., 2008)

Inferred from location ( 0 )

Alleles Representing Disease-Implicated Variants

Phenotypes

For more details about a specific phenotype click on the relevant allele symbol.

Lethality

Allele

lethal, with Scer\GAL4^αTub84B.PL

lethal | embryonic stage, with Scer\GAL4^{VP16.mat.αTub67C}

Ube3a^UAS.cLa

lethal | first instar larval stage, with Scer\GAL4^{VP16.mat.αTub67C}

Ube3a^UAS.cLa

lethal | male limited, with Scer\GAL4^elav-C155

Ube3a^UAS.cLa

lethal | recessive

Ube3a^EP3214

viable

viable, with Dcr-2^UAS.cDa, Scer\GAL4^elav.PLu

Ube3a^GD450

viable, with Scer\GAL4^Mef2.PR

Ube3a^GD450

viable, with Scer\GAL4^pnr-MD237

Ube3a^GD450

viable, with Scer\GAL4^tin.CΔ4

Ube3a^GD450

viable, with Scer\GAL4^αTub84B.PL

Ube3a^C941A.UAS

viable (with Df(3L)ED4470)

Ube3a³⁵

viable (with Df(3L)vin5)

Sterility

Allele

fertile

fertile (with Df(3L)ED4470)

Ube3a³⁵

fertile (with Df(3L)vin5)

Other Phenotypes

Allele

abnormal chemosensitive behavior | adult stage

Ube3a^15B

abnormal learning | adult stage

abnormal learning | adult stage, with Scer\GAL4^elav.PU

abnormal learning | adult stage, with Scer\GAL4^ey-OK107

Ube3a^GD450

abnormal learning | adult stage, with Scer\GAL4^Tab2-201Y

Ube3a^GD450

abnormal learning | adult stage | adult stage | RU486 conditional, with Scer\GAL4^{elav.Switch.PO}

Ube3a^JF03406

abnormal learning | adult stage | adult stage | RU486 conditional, with Scer\GAL4^{Mef2.247.Switch}

Ube3a^JF03406

abnormal learning | adult stage | dominant | maternal effect

Ube3a^unspecified

abnormal learning | dominant | larval stage | maternal effect

Ube3a^unspecified

abnormal locomotor behavior

Ube3a^15B

abnormal locomotor behavior, with Scer\GAL4^elav-C155

abnormal locomotor behavior | adult stage

Ube3a^15B

abnormal locomotor behavior | adult stage, with Scer\GAL4^elav.PLu

Ube3a^UAS.cWa

abnormal locomotor rhythm

Ube3a^15B

abnormal memory

Ube3a^15B

abnormal memory | adult stage

Ube3a^EP3214

abnormal memory | adult stage | RU486 conditional, with Scer\GAL4^{elav.Switch.PO}

Ube3a^JF03406

abnormal memory | adult stage | RU486 conditional, with Scer\GAL4^{Mef2.247.Switch}

Ube3a^JF03406

abnormal neuroanatomy

abnormal neuroanatomy, with Scer\GAL4²²¹

abnormal neuroanatomy, with Ube3a^GD450, Scer\GAL4⁴⁷⁷

Ube3a^Δ15-8

abnormal neuroanatomy, with Ube3a^Δ15-8, Scer\GAL4⁴⁷⁷

Ube3a^GD450

abnormal neuroanatomy (with Ube3a^Δ3-8)

Ube3a^Δ15-8

abnormal neuroanatomy (with Ube3a^Δ15-8)

Ube3a^Δ3-8

abnormal neuroanatomy | adult stage | recessive

Ube3a^unspecified

abnormal neuroanatomy | third instar larval stage

Ube3a³⁵

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^elav.PU

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^elav-C155

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^RapGAP1-OK6

abnormal neuroanatomy | third instar larval stage (with Df(3L)ED4470)

abnormal neuroanatomy | third instar larval stage (with Ube3a^15B)

Ube3a³⁵

abnormal neuroanatomy | third instar larval stage (with Ube3a³⁵)

abnormal neuroanatomy | third instar larval stage (with Ube3a⁵⁴⁹)

Ube3a³⁵

abnormal neurophysiology | adult stage, with Scer\GAL4^repo

Ube3a^UAS.cRa

abnormal neurophysiology | third instar larval stage

abnormal neurophysiology | third instar larval stage, with Scer\GAL4^elav-C155

abnormal size, with Scer\GAL4^GMR.PU

Ube3a^UAS.cWa

bang sensitive | adult stage | progressive, with Scer\GAL4^repo

Ube3a^UAS.cRa

paralytic | adult stage | conditional, with Scer\GAL4^repo

Ube3a^UAS.cRa

paralytic | adult stage | heat sensitive, with Scer\GAL4^repo

Ube3a^UAS.cRa

visible, with Scer\GAL4^GMR.PU

wild-type

Ube3a^6PE

Phenotype manifest in

Allele

adult mushroom body, with Scer\GAL4^repo

Ube3a^UAS.cRa

adult mushroom body alpha-lobe

Ube3a^unspecified

adult mushroom body beta-lobe

Ube3a^unspecified

adult optic lobe | adult stage, with Scer\GAL4^repo

Ube3a^UAS.cRa

embryonic/larval neuromuscular junction | third instar larval stage

Ube3a^15B

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^elav-C155

eye, with Scer\GAL4^GMR.PF

eye, with Scer\GAL4^GMR.PU

interommatidial bristle, with Scer\GAL4^GMR.PF

Ube3a^{C-A.UAS.Tag:FLAG}

larval dorsal multidendritic neuron ddaC

larval dorsal multidendritic neuron ddaC, with Ube3a^GD450, Scer\GAL4⁴⁷⁷

Ube3a^Δ15-8

larval dorsal multidendritic neuron ddaC, with Ube3a^Δ15-8, Scer\GAL4⁴⁷⁷

Ube3a^GD450

larval dorsal multidendritic neuron ddaC (with Ube3a^Δ3-8)

Ube3a^Δ15-8

larval dorsal multidendritic neuron ddaC (with Ube3a^Δ15-8)

Ube3a^Δ3-8

larval dorsal multidendritic neuron ddaE

larval dorsal multidendritic neuron ddaE, with Scer\GAL4²²¹

larval dorsal multidendritic neuron ddaF

larval dorsal multidendritic neuron ddaF, with Scer\GAL4²²¹

NMJ bouton | increased number | third instar larval stage

Ube3a³⁵

NMJ bouton | increased number | third instar larval stage, with Scer\GAL4^elav.PU

NMJ bouton | increased number | third instar larval stage, with Scer\GAL4^RapGAP1-OK6

NMJ bouton | increased number | third instar larval stage (with Df(3L)ED4470)

Ube3a^15B

NMJ bouton | increased number | third instar larval stage (with Ube3a^15B)

Ube3a³⁵

NMJ bouton | increased number | third instar larval stage (with Ube3a³⁵)

Ube3a^15B

NMJ bouton | third instar larval stage (with Df(3L)ED4470)

NMJ bouton | third instar larval stage (with Ube3a³⁵)

Ube3a⁵⁴⁹

NMJ bouton | third instar larval stage (with Ube3a⁵⁴⁹)

Ube3a³⁵

ommatidium, with Scer\GAL4^GMR.PF

Ube3a^UAS.cLa

photoreceptor neuron, with Scer\GAL4^GMR.PF

Ube3a^UAS.cLa

retina, with Scer\GAL4^GMR.PF

Ube3a^UAS.cWa

synaptic vesicle | third instar larval stage

Ube3a³⁵

synaptic vesicle | third instar larval stage, with Scer\GAL4^elav-C155

Ube3a^UAS.Tag:FLAG

wing, with Scer\GAL4^Bx-MS1096

wing margin, with Scer\GAL4^vg.PM

Ube3a^UAS.cLa

Orthologs

Downloads

Download All DIOPT Orthologs

Human Orthologs (via DIOPT v8.0)

Homo sapiens (Human) (38)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Hsap\UBE3A

14 of 15

Yes

3 of 15

2 of 15

2 of 15

2 of 15

2 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

Model Organism Orthologs (via DIOPT v8.0)

Mus musculus (laboratory mouse) (34)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Mmus\Ube3a

14 of 15

Yes

3 of 15

2 of 15

2 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

Rattus norvegicus (Norway rat) (31)

Rnor\Ube3a

13 of 13

Yes

2 of 13

2 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Yes

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Xenopus tropicalis (Western clawed frog) (27)

Xtro\ube3a

9 of 12

Yes

2 of 12

2 of 12

2 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

Yes

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

Danio rerio (Zebrafish) (40)

Drer\ube3a

10 of 15

Yes

3 of 15

2 of 15

2 of 15

2 of 15

Drer\si:ch211-281g13.4

2 of 15

Drer\si:ch211-281g13.5

2 of 15

2 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

Caenorhabditis elegans (Nematode, roundworm) (11)

Cele\herc-1

2 of 15

Yes

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

1 of 15

Yes

Cele\Y92H12A.2

1 of 15

Cele\yap-1

1 of 15

Arabidopsis thaliana (thale-cress) (3)

Atha\AT3G02510

1 of 9

Yes

Atha\AT5G16040

1 of 9

Yes

Atha\UVR8

1 of 9

Yes

Saccharomyces cerevisiae (Brewer's yeast) (5)

Scer\HUL4

5 of 15

Yes

1 of 15

1 of 15

1 of 15

1 of 15

Schizosaccharomyces pombe (Fission yeast) (1)

Spom\mug30

4 of 12

Yes

Other Organism Orthologs (via OrthoDB)

Paralogs

Downloads

Download All DIOPT Paralogs

Paralogs (via DIOPT v8.0)

Drosophila melanogaster (Fruit fly) (18)

Gene Symbol

Score

Source

Alignment

4 of 10

2 of 10

2 of 10

2 of 10

2 of 10

2 of 10

2 of 10

hyd

2 of 10

2 of 10

2 of 10

2 of 10

2 of 10

1 of 10

1 of 10

1 of 10

1 of 10

1 of 10

yki

1 of 10

Human Disease Associations

FlyBase Human Disease Model Reports

Disease Model Summary Ribbon

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 12 )

Allele

Disease

Evidence

References

Ube3a^GD450

model of intellectual disability

CEA

(Chakraborty et al., 2015)

model of Angelman syndrome

CEA

(Gossan et al., 2014)

Ube3a^EP3214

model of autism spectrum disorder

CEA

(Dong et al., 2016)

Ube3a^UAS.Tag:FLAG

model of autism spectrum disorder

CEA

(Valdez et al., 2015)

Ube3a^15B

model of Angelman syndrome

CEA

(Valdez et al., 2015, Wu et al., 2008)

Ube3a^UAS.cWa

model of intellectual disability

CEA

(Chakraborty et al., 2015)

Ube3a^C941A.UAS

model of intellectual disability

CEA

(Chakraborty et al., 2015)

Ube3a^Tag:MYC

model of intellectual disability

CEA

(Chakraborty et al., 2015)

Ube3a^JF03406

model of autism spectrum disorder

CEA

(Dong et al., 2016)

Ube3a^unspecified

model of intellectual disability

CEA

(Chakraborty et al., 2015)

Ube3a³⁵

model of Angelman syndrome

CEA

(Li et al., 2016)

Ube3a^UAS.cLb

model of Angelman syndrome

CEA

(Gossan et al., 2014)

Ube3a^UAS.cSa

model of Angelman syndrome

CEA

(Straub et al., 2020)

Potential Models Based on Orthology ( 1 )

Human Ortholog

Disease

Evidence

References

UBE3A; ubiquitin protein ligase E3A

model of Angelman syndrome

IEA

(FlyBase, 2019-)

Modifiers Based on Experimental Evidence ( 2 )

Allele

Disease

Interaction

References

Ube3a^unspecified

model of intellectual disability

is ameliorated by Hsap\UBE3A^UAS.iso1.cCa

(Chakraborty et al., 2015)

is ameliorated by drl^UAS.cCa

(Chakraborty et al., 2015)

Ube3a³⁵

model of Angelman syndrome

is ameliorated by Mad¹²

(Li et al., 2016)

is ameliorated by tkv⁸

(Li et al., 2016)

is ameliorated by tkv^k16713

(Li et al., 2016)

Disease Associations of Human Orthologs (via DIOPT v8.0 and OMIM)

Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.

Homo sapiens (Human)

Gene name

Score

OMIM

OMIM Phenotype

DO term

Complementation?

Transgene?

UBE3A; ubiquitin protein ligase E3A

14 of 15

601623

ANGELMAN SYNDROME; AS

Angelman syndrome

HECTD2; HECT domain E3 ubiquitin protein ligase 2

3 of 15

Functional Complementation Data

Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.

Dmel gene

Ortholog showing functional complementation

Supporting References

Ube3a

Hsap\UBE3A

(Chakraborty et al., 2015)

Interactions

Summary of Physical Interactions

esyN Network Diagram

Interactions Browser

View in Interactions Browser

Please see the Physical Interaction reports below for full details

protein-protein

Physical Interaction

Assay

References

Ube3a - Atpα

enzymatic study, western blot

(Jensen et al., 2013)

Ube3a - S6KL

anti tag coimmunoprecipitation, anti tag western blot

(Li et al., 2016)

Ube3a - pbl

anti tag coimmunoprecipitation, anti tag western blot

(Reiter et al., 2006)

Ube3a - tkv

anti tag coimmunoprecipitation, anti tag western blot, enzymatic study, western blot

(Li et al., 2016)

Ube3a - trpl

anti tag coimmunoprecipitation, anti tag western blot

(Zhang et al., 2013)

Summary of Genetic Interactions

esyN Network Diagram

esyN Network Key:

Suppression

Enhancement

View in Interactions Browser

Please look at the allele data for full details of the genetic interactions

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

Ube3a

suppressible

Atpα

(Hope et al., 2017)

Ube3a

suppressible

drl

(Chakraborty et al., 2015)

enhanceable

(Lu et al., 2009)

suppressible

(Li et al., 2016)

enhanceable

(Ferdousy et al., 2011)

suppressible

(Lee et al., 2014)

suppressible

(Li et al., 2016)

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

eff

enhanceable

Ube3a

(Lu et al., 2009)

External Data

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0061469

MIST (protein-protein) - An integrated Molecular Interaction Database

Ube3a

Pathways

Signaling Pathways (FlyBase)

Negative Regulators of BMP Signaling Pathway -: Negative regulators of Bone Morphogenetic Protein (BMP) signaling down-regulate the pathway, ultimately resulting in the decreased nuclear activity of the Mad/Med transcription factor complex.

Metabolic Pathways

FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.

FBgn0061469

External Data

Linkouts

KEGG Pathways - Wiring diagrams of molecular interactions, reactions and relations.

Ubiquitin mediated proteolysis

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

Antigen processing: Ubiquitination & Proteasome degradation

Genomic Location and Detailed Mapping Data

Chromosome (arm)

Recombination map

3-35

Cytogenetic map

68B1-68B1

Sequence location

3L:11,206,422..11,210,583 [-]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

68B1-68B1

Limits computationally determined from genome sequence between P{PZ}l(3)01239⁰¹²³⁹&P{lacW}l(3)01239^j9B4 and P{PZ}CycA⁰²⁴⁶¹&P{PZ}CycA⁰³⁹⁴⁶

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

Experimentally Determined Recombination Data

Location

3-35

(FlyBase, 2016)

3-28.9

(Comeron et al., 2012)

Left of (cM)

Right of (cM)

Notes

Stocks and Reagents

Stocks (16)

Aberrations including deletions of this gene Aberrations including duplications of this gene

Bloomington

90882

w^*; P{UAS-Ube3a.C-A}30L

90376

w^*; P{UAS-Ube3a.R}27/SM5

17099

w¹¹¹⁸; P{EP}Ube3a^EP3214

90377

y¹ w^*; P{UAS-FLAG-Ube3a}51

31972

y¹ v¹; P{TRiP.JF03406}attP2

90375

w^*; P{UAS-Ube3a.R}45, P{UAS-GFP.U}2/CyO

90380

w^*; Ube3a^15B/TM6B, Tb¹

58030

y¹ w^*; Mi{MIC}Ube3a^MI13174

90378

w^*; P{UAS-Ube3a.I925K.3myc}3/TM6B, Tb¹

90374

w^*; P{UAS-Ube3a.R}45; P{GAL4}repo/T(2;3)ap^Xa

VDRC

v100130

P{KK104898}VIE-260B

v45875

w¹¹¹⁸; P{GD450}v45875

More stocks available...

Genomic Clones (15)

Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete

cDNA Clones (68)

Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see GBrowse for alignment of the cDNAs and ESTs to the gene model.

cDNA clones, fully sequenced

BDGP DGC clones

LD21888

Other clones

Drosophila Genomics Resource Center cDNA clones

For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

FBgn0061469

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

Other clones

RNAi and Array Information

Linkouts

DRSC - Results frm RNAi screens

FBgn0061469

GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents

39266

Antibody Information

Laboratory Generated Antibodies

monoclonal

(Li et al., 2016)

polyclonal

(Lu et al., 2009, Wu et al., 2008)

Commercially Available Antibodies

Other Information

Relationship to Other Genes

Source for database identify of

Source for identity of: Ube3a As

(Reiter et al., 2006)

Source for database merge of

Source for merge of: As CG6190

(Bier, 2005)

Additional comments

Other Comments

Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase 1 activity via a non-ubiquitin ligase mechanism.

(Ferdousy et al., 2011)

One of 42 Drosophila genes identified as being most likely to reveal molecular and cellular mechanisms of nervous system development or plasticity relevant to human Mental Retardation disorders.

(Inlow and Restifo, 2004)

Misexpression of As in the wing results in ectopic wing veins and blisters.

(Bowers et al., 2002)

Origin and Etymology

Discoverer

Etymology

Identification

External Crossreferences and Linkouts ( 41 )

Sequence Crossreferences

NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

39266

GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.

GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.

RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.

UniProt/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.

Q9VTH1

UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information

Q9VTH1

Other crossreferences

AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.

Q9VTH1

BDGP expression data - Patterns of gene expression in Drosophila embryogenesis

FBgn0061469

Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones

FBgn0061469

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

39266/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0061469

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

Ube3a_1

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0061469

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0061469

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG6190

Flygut - An atlas of the Drosophila adult midgut

FBgn0061469

FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.

FBgn0061469

GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents

39266

iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)

TC011206

InterPro - A database of protein families, domains and functional sites

KEGG Genes - Molecular building blocks of life in the genomic space.

Dmel_CG6190

MARRVEL_MODEL - MARRVEL (model organism gene)

39266

modMine - A data warehouse for the modENCODE project

FBgn0061469

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0061469

DRSC - Results frm RNAi screens

FBgn0061469

FlyCyc Genes - Genes from a BioCyc PGDB for Dmel

FBGN0061469

FlyMine - An integrated database for Drosophila genomics

FBgn0061469

Interactive Fly - A cyberspace guide to Drosophila development and metazoan evolution

Interactive Fly

KEGG Pathways - Wiring diagrams of molecular interactions, reactions and relations.

Ubiquitin mediated proteolysis

MIST (protein-protein) - An integrated Molecular Interaction Database

Ube3a

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

Antigen processing: Ubiquitination & Proteasome degradation

Synonyms and Secondary IDs (21)

Reported As

Symbol Synonym

(Wu et al., 2008)

(Franco et al., 2011, Arancio et al., 2010)

CG6190

(Ibaraki et al., 2021, Ni et al., 2010.12.1, Keleman et al., 2009.8.5, Lu et al., 2009, Perkins et al., 2009, Wu et al., 2008, Wu et al., 2008, Goodman et al., 2006, Molnar et al., 2006, Muraro and Moffat, 2006, Peterson and Reiter, 2006, Reiter et al., 2006, Brumby et al., 2004, Inlow and Restifo, 2004, Driscoll and Gerstbrein, 2003)

Dube3A

(Androschuk et al., 2015)

Dube3a

(Hope et al., 2020, Roy et al., 2020, Hope et al., 2019, Hope et al., 2017, Hope et al., 2016, Valdez et al., 2015, Jensen et al., 2013, Summers et al., 2008)

NM_140195.2

(Marin, 2010)

UBE3A

(Ferdousy et al., 2011, Lu et al., 2009, Cukier et al., 2008)

Ube3A

(Harnish et al., 2021)

dUBE3A

(Jana, 2012, Lu et al., 2009)

dUbe3A

(Copf, 2015)

dUbe3a

(Kim et al., 2013)

das

(Bowers et al., 2002, Bier and Reiter, 2001)

dube3A

(Peterson and Reiter, 2006, Bier, 2005)

dube3a

(Chakraborty et al., 2015, Okray and Hassan, 2013, Wu et al., 2008, Wu et al., 2008, Kracklauer et al., 2007, Elsisi et al., 2006, Reiter et al., 2006)

ube3a

(Cai et al., 2019, Iyer et al., 2016, Li et al., 2016, Oortveld et al., 2013, Zhang et al., 2013)

Name Synonyms

Angelman syndrome

(Lu et al., 2009, Wu et al., 2008, Bowers et al., 2002, Bier and Reiter, 2001)

Drosophila Angelman syndrome

(Bowers et al., 2002, Bier and Reiter, 2001)

Ubiquitin protein ligase E3A

Ubiquitin-protein ligase E3A

(Dong et al., 2016)

ubiquitin protein ligase 3a

(Oortveld et al., 2013)

Secondary FlyBase IDs

FBgn0036148

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

Study result (0)

Result

Result Type

Title

References (95)

The following external sites may use different assemblies or annotations than FlyBase.

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