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Ubiquitin protein ligase E3B

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family. The encoded protein may interact with other proteins and play a role in stress response. Alternatively spliced transcript variants encoding the same protein isoform have been identified for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Ubiquitin, CAN, iMpact, UBE3A, SERCA2
Papers on UBE3B
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
Misceo et al., Oslo, Norway. In Am J Med Genet A, Mar 2015
Two novel compound heterozygous mutations in UBE3B were identified in both the sisters by exome sequencing.
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
Borck et al., Petah Tikva, Israel. In Hum Genet, 2014
Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels.
In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.
Andersson et al., Helsinki, Finland. In Bmc Genomics, 2013
Whole genome re-sequencing of an unaffected carrier, its affected progeny and 43 other unaffected animals from another breed identified a G > A substitution mutation at the last nucleotide of exon 23 in the ubiquitin protein ligase E3B encoding gene (UBE3B).
Changes in skeletal muscle proteolytic gene expression after prophylactic supplementation of EGCG and NAC and eccentric damage.
Willoughby et al., Albuquerque, United States. In Food Chem Toxicol, 2013
The expression of proteolytic genes [i.e., muscle ring-finger 1 (MuRF1), atrogin-1, α-type 20S subunit C2 (HC2), α-type 20S subunit C3 (HC3), ubiquitin protein ligase 3B (UBE3B), μ-calpain, and m-calpain] was quantified using real-time RT-PCR.
UBE3B and ZRANB1 polymorphisms and transcript abundance are associated with water holding capacity of porcine M. longissimus dorsi.
Wimmers et al., Germany. In Meat Sci, 2013
Our study sought to identify polymorphisms in UBE3B and ZRANB1, genes encoding proteins involved in ubiquitination, and to evaluate the relationship between genotype, transcript abundance, and WHC of pork.
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.
Zampino et al., Roma, Italy. In J Med Genet, 2013
RESULTS: Exome sequencing was able to identify homozygosity for a novel truncating mutation (c.556C>T, p.Arg186stop) in UBE3B, which encodes a widely expressed HECT (homologous to the E6-AP carboxyl terminus) domain E3 ubiquitin-protein ligase.
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Borck et al., Petah Tikva, Israel. In Am J Hum Genet, 2013
Although the function of UBE3A has been widely studied, little is known about its paralog UBE3B.
Alkylation sensitivity screens reveal a conserved cross-species functionome.
Sobol et al., Pittsburgh, United States. In Mol Cancer Res, 2012
This high-throughput screen, validation and cross-species analysis was then followed by a mechanistic analysis of two essential nodes: base excision repair (BER) DNA glycosylases (UNG, human and mag1, S. cerevisiae) and protein modification systems, including UBE3B and ICMT in human cells or pby1, lip22, stp22 and aim22 in S. cerevisiae.
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
Drenos et al., Utrecht, Netherlands. In Am J Hum Genet, 2012
We also identified several lipid-related SNPs in previously unreported genes: DGAT2, HCAR2, GPIHBP1, PPARG, and FTO for HDL-C; SOCS3, APOH, SPTY2D1, BRCA2, and VLDLR for LDL-C; SOCS3, UGT1A1, BRCA2, UBE3B, FCGR2A, CHUK, and INSIG2 for TC; and SERPINF2, C4B, GCK, GATA4, INSR, and LPAL2 for TGs.
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
Walsh et al., Boston, United States. In Plos Genet, 2011
The candidate genes (UBE3B, CLTCL1, NCKAP5L, ZNF18) encode proteins involved in proteolysis, GTPase-mediated signaling, cytoskeletal organization, and other pathways.
Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.
Mohlke et al., Chapel Hill, United States. In Hum Mol Genet, 2010
In contrast, MVK, UBE3B, KCTD10 and ACACB did not show significant AEI (P > or = 0.05).
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.
Schöls et al., Tübingen, Germany. In Neurology, 2009
No disease-causing mutations were identified in the coding regions of ATXN2, HSPB8, IFT81, Myo1H, UBE3B, and VPS29.
Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
Platzer et al., Jena, Germany. In Genome Biol, 2006
the apparent occurrence of an unusual TG 3' splice site in intron 25 is discussed
Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.
Lomax et al., Ann Arbor, United States. In Genomics, 2003
UBE3B is a novel E3 ligase, with a HECT-domain which constitutes the active site for ubiquitin transfer
Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.
Kroisel et al., Graz, Austria. In Am J Med Genet A, 2003
Several known genes including ATP2A2, UBE3B, and VR-OAC that map in the 12q22-q24.1 region are included in the deletion.
Differential Gene Expression Following Noise Trauma in Birds and Mammals.
Altschuler et al., Ann Arbor, United States. In Noise Health, 2000
A third gene, UBE3B, encodes an E3 ubiquitin ligase involved in protein turnover.
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