ubiquitin-protein ligase E3B isoform 3 [Homo sapiens]

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View conserved domains detected in this protein sequence using CD-search.
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Opens the Genome Data Viewer, NCBI's genome browser, at the genomic location at which this sequence is annotated. View this sequence in the context of other features annotated at the same location and browse to other genome regions.

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population. [Clin Dysmorphol. 2024]
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
Albakheet A, Almuallami D, Almass R, Qari A, Kenana R, AlQudairy H, Huma R, Binomar H, Wakil SM, Alowain M, et al. Clin Dysmorphol. 2024 Apr 1; 33(2):55-62. Epub 2024 Feb 15.
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. [Am J Med Genet A. 2020]
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat EA, El Saeidi SA, Aglan MS, Temtamy S, et al. Am J Med Genet A. 2020 Dec; 182(12):2857-2866. Epub 2020 Sep 19.
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. [Am J Med Genet A. 2018]
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M, Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L, Borck G. Am J Med Genet A. 2018 Jan; 176(1):187-193. Epub 2017 Nov 21.

RefSeq genomic sequence
See the genomic reference sequence for the UBE3B gene (NG_033898.2).
RefSeq mRNA
See reference mRNA sequence for the UBE3B gene (NM_001270450.2).
RefSeq protein isoforms
See 39 reference sequence protein isoforms for the UBE3B gene.

NP_001257379 [Domain Mapping of Disease Mut...]
NP_001257379
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
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Protein