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Aliases for UBE3B Gene

Aliases for UBE3B Gene

  • Ubiquitin Protein Ligase E3B 2 3
  • BPIDS 3 6
  • Ubiquitin-Protein Ligase E3B 3
  • EC 6.3.2.- 4
  • EC 6.3.2 63
  • KOS 3

External Ids for UBE3B Gene

Previous GeneCards Identifiers for UBE3B Gene

  • GC12P108973
  • GC12P109754
  • GC12P108378
  • GC12P109915
  • GC12P106933

Summaries for UBE3B Gene

Entrez Gene Summary for UBE3B Gene

  • 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: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for UBE3B Gene

UBE3B (Ubiquitin Protein Ligase E3B) is a Protein Coding gene. Diseases associated with UBE3B include blepharophimosis-ptosis-intellectual disability syndrome and kaufman oculocerebrofacial syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is UBE3C.

UniProtKB/Swiss-Prot for UBE3B Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE3B Gene

Genomics for UBE3B Gene

Regulatory Elements for UBE3B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for UBE3B Gene

Start:
109,477,402 bp from pter
End:
109,536,705 bp from pter
Size:
59,304 bases
Orientation:
Plus strand

Genomic View for UBE3B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UBE3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE3B Gene

Proteins for UBE3B Gene

  • Protein details for UBE3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3V4-UBE3B_HUMAN
    Recommended name:
    Ubiquitin-protein ligase E3B
    Protein Accession:
    Q7Z3V4
    Secondary Accessions:
    • A5D8Z3
    • Q05BX9
    • Q659F7
    • Q7Z7Q1
    • Q9BXZ4

    Protein attributes for UBE3B Gene

    Size:
    1068 amino acids
    Molecular mass:
    123098 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for UBE3B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE3B Gene

Proteomics data for UBE3B Gene at MOPED

Selected DME Specific Peptides for UBE3B Gene

Post-translational modifications for UBE3B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for UBE3B Gene

Protein Domains for UBE3B Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z3V4

UniProtKB/Swiss-Prot:

UBE3B_HUMAN :
  • Q7Z3V4
Domain:
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Contains 1 IQ domain.
genes like me logo Genes that share domains with UBE3B: view

No data available for Gene Families for UBE3B Gene

Function for UBE3B Gene

Molecular function for UBE3B Gene

UniProtKB/Swiss-Prot Function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

Enzyme Numbers (IUBMB) for UBE3B Gene

Gene Ontology (GO) - Molecular Function for UBE3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with UBE3B: view
genes like me logo Genes that share phenotypes with UBE3B: view

Animal Model Products

CRISPR Products

miRNA for UBE3B Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UBE3B

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for UBE3B Gene

Localization for UBE3B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBE3B Gene COMPARTMENTS Subcellular localization image for UBE3B gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for UBE3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with UBE3B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UBE3B Gene

Pathways for UBE3B Gene

genes like me logo Genes that share pathways with UBE3B: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q7Z3V4-UBE3B_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for UBE3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with UBE3B: view

Compounds for UBE3B Gene

(4) HMDB Compounds for UBE3B Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with UBE3B: view

Transcripts for UBE3B Gene

Unigene Clusters for UBE3B Gene

Ubiquitin protein ligase E3B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UBE3B

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for UBE3B
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBE3B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5: - - -
SP6: -
SP7: - - - -
SP8: - -

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for UBE3B Gene

GeneLoc Exon Structure for
UBE3B
ECgene alternative splicing isoforms for
UBE3B

Expression for UBE3B Gene

mRNA expression in normal human tissues for UBE3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBE3B Gene

SOURCE GeneReport for Unigene cluster for UBE3B Gene Hs.374067

mRNA Expression by UniProt/SwissProt for UBE3B Gene

Q7Z3V4-UBE3B_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with UBE3B: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for UBE3B Gene

Orthologs for UBE3B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBE3B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBE3B 35
  • 99.5 (n)
  • 99.44 (a)
UBE3B 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBE3B 35
  • 89.7 (n)
  • 95.6 (a)
UBE3B 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBE3B 35
  • 91.23 (n)
  • 96.54 (a)
UBE3B 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ube3b 35
  • 86.11 (n)
  • 92.32 (a)
Ube3b 16
Ube3b 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBE3B 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ube3b 35
  • 86.36 (n)
  • 92.04 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 88 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
LOC776286 35
  • 78.03 (n)
  • 85.32 (a)
lizard
(Anolis carolinensis)
Reptilia UBE3B 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube3b 35
  • 74.44 (n)
  • 83.8 (a)
zebrafish
(Danio rerio)
Actinopterygii ube3b 35
  • 73.76 (n)
  • 81.8 (a)
ube3b 36
  • 81 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005897 35
  • 55.28 (n)
  • 50.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5087 35
  • 54.9 (n)
  • 49.67 (a)
CG5087 36
  • 49 (a)
OneToOne
CG5087 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea oxi-1 35
  • 47.65 (n)
  • 39.92 (a)
oxi-1 36
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL5 36
  • 26 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14141 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 9 (a)
OneToOne
Species with no ortholog for UBE3B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UBE3B Gene

ENSEMBL:
Gene Tree for UBE3B (if available)
TreeFam:
Gene Tree for UBE3B (if available)

Paralogs for UBE3B Gene

Paralogs for UBE3B Gene

Selected SIMAP similar genes for UBE3B Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with UBE3B: view

Variants for UBE3B Gene

Sequence variations from dbSNP and Humsavar for UBE3B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1614 -- 109,536,491(-) CTCCT(C/T)GTCAA utr-variant-3-prime
rs1617 -- 109,536,459(-) TGGTG(C/T)TTATA utr-variant-3-prime
rs9985 -- 109,536,389(+) GAAGA(A/T)GGATC utr-variant-3-prime
rs12679 -- 109,530,622(+) GCCTC(C/T)GACTT reference, synonymous-codon, intron-variant
rs14863 -- 109,536,346(+) GGGTT(C/T)GTGCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for UBE3B Gene

Variant ID Type Subtype PubMed ID
nsv899514 CNV Loss 21882294
dgv1490n71 CNV Loss 21882294

Relevant External Links for UBE3B Gene

HapMap Linkage Disequilibrium report
UBE3B
Human Gene Mutation Database (HGMD)
UBE3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE3B Gene

Disorders for UBE3B Gene

(1) OMIM Diseases for UBE3B Gene (608047)

UniProtKB/Swiss-Prot

UBE3B_HUMAN
  • Blepharophimosis-ptosis-intellectual disability syndrome (BPIDS) [MIM:615057]: A disorder characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present. {ECO:0000269 PubMed:23200864}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for UBE3B Gene

Relevant External Links for UBE3B

Genetic Association Database (GAD)
UBE3B
Human Genome Epidemiology (HuGE) Navigator
UBE3B
genes like me logo Genes that share disorders with UBE3B: view

Publications for UBE3B Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. (PMID: 23200864) Basel-Vanagaite L. … Borck G. (Am. J. Hum. Genet. 2012) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  4. Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing. (PMID: 12837265) Gong T.-W.L. … Lomax M.I. (Genomics 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for UBE3B Gene

Sources for UBE3B Gene

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