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Ube3b ubiquitin protein ligase E3B [ Mus musculus (house mouse) ]

Gene ID: 117146, updated on 21-Apr-2024

Summary

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Official Symbol
Ube3bprovided by MGI
Official Full Name
ubiquitin protein ligase E3Bprovided by MGI
Primary source
MGI:MGI:1891295
See related
Ensembl:ENSMUSG00000029577 AllianceGenome:MGI:1891295
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
Summary
Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in protein polyubiquitination and ubiquitin-dependent protein catabolic process. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Kaufman oculocerebrofacial syndrome. Orthologous to human UBE3B (ubiquitin protein ligase E3B). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 52.8), adrenal adult (RPKM 51.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
5 F; 5 55.99 cM
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (114518578..114559226)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (114380517..114421169)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene forkhead box N4 Neighboring gene VISTA enhancer mm1522 Neighboring gene myosin 1H Neighboring gene STARR-positive B cell enhancer mm9_chr5:114762243-114762544 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:114765155-114765411 Neighboring gene potassium channel tetramerisation domain containing 10 Neighboring gene microRNA 7027 Neighboring gene STARR-positive B cell enhancer ABC_E278 Neighboring gene methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) Neighboring gene mevalonate kinase

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
  • 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. The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK. Cheon S, et al. Proc Natl Acad Sci U S A, 2019 Feb 26. PMID 30808755, Free PMC Article
  2. The murine ortholog of Kaufman oculocerebrofacial syndrome gene Ube3b is crucial for the maintenance of the excitatory synapses in the young adult stage. Katsube S, et al. Neurosci Lett, 2023 Feb 16. PMID 36623761
  3. Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing. Gong TW, et al. Genomics, 2003 Aug. PMID 12837265
  4. Split Chloramphenicol Acetyl-Transferase Assay Reveals Self-Ubiquitylation-Dependent Regulation of UBE3B. Levin-Kravets O, et al. J Mol Biol, 2021 Nov 19. PMID 34599943
  5. Differential display and gene arrays to examine auditory plasticity. Lomax MI, et al. Hear Res, 2000 Sep. PMID 10962193

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The murine ortholog of Kaufman oculocerebrofacial syndrome gene Ube3b is crucial for the maintenance of the excitatory synapses in the young adult stage.
    Title: The murine ortholog of Kaufman oculocerebrofacial syndrome gene Ube3b is crucial for the maintenance of the excitatory synapses in the young adult stage.
  2. The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
    Title: The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
  3. Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals.
    Title: Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (3)  1 citation
  • Endonuclease-mediated (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
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 transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of postsynapse assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of postsynapse assembly IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in regulation of postsynapse assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IEP
Inferred from Expression Pattern
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in postsynapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynapse IEP
Inferred from Expression Pattern
more info
 PubMed 
is_active_in postsynapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
ubiquitin-protein ligase E3B
Names
HECT-type ubiquitin transferase E3B
NP_001318148.1
NP_001411684.1
NP_001411685.1
NP_001411686.1
NP_001411687.1
NP_473434.2

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_001331219.2 → NP_001318148.1  ubiquitin-protein ligase E3B isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC132102

  2. NM_001424755.1 → NP_001411684.1  ubiquitin-protein ligase E3B isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC132102
    UniProtKB/Swiss-Prot
    Q8K068, Q9ES34

  3. NM_001424756.1 → NP_001411685.1  ubiquitin-protein ligase E3B isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC132102

  4. NM_001424757.1 → NP_001411686.1  ubiquitin-protein ligase E3B isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC132102

  5. NM_001424758.1 → NP_001411687.1  ubiquitin-protein ligase E3B isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC132102

  6. NM_054093.4 → NP_473434.2  ubiquitin-protein ligase E3B isoform 1

    See identical proteins and their annotated locations for NP_473434.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC132102
    Consensus CDS
    CCDS19564.1
    UniProtKB/Swiss-Prot
    Q8K068, Q9ES34
    Related
    ENSMUSP00000073652.6, ENSMUST00000074002.12
    Conserved Domains (2) summary
    smart00119
    Location:709 → 1067
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:684 → 1068
    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 ...

RNA

  1. NR_138602.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC132102
    Related
    ENSMUST00000130169.8

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_000071.7 Reference GRCm39 C57BL/6J

    Range
    114518578..114559226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_387554.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ES34.3 GenPept UniProtKB/Swiss-Prot:Q9ES34

Gene LinkOut

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