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Aliases for UBE3B Gene

Aliases for UBE3B Gene

  • Ubiquitin Protein Ligase E3B 2 3 5
  • HECT-Type Ubiquitin Transferase E3B 3 4
  • Ubiquitin-Protein Ligase E3B 3
  • EC 2.3.2.26 4
  • EC 6.3.2 56
  • BPIDS 3
  • 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 Kaufman Oculocerebrofacial Syndrome and Blepharophimosis. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and 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.

Additional gene information for UBE3B Gene

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

Genomics for UBE3B Gene

GeneHancer (GH) Regulatory Elements for UBE3B Gene

Promoters and enhancers for UBE3B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I109475 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 570.9 -0.3 -309 3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B KCTD10 UBE3B IFT81 ALKBH2 SART3 RNU4-32P FAM216A USP30 ARPC3 ANKRD13A
GH12I109993 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 28.3 +518.0 518038 3.1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 ZNF207 ZNF143 GIT2 IFT81 UBE3B ALKBH2 RNU4-32P ANAPC7 GLTP ENSG00000277299
GH12I108626 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.1 -838.5 -838538 24.2 HDGF PKNOX1 SMAD1 ARNT FEZF1 IRF4 POLR2B ZNF766 CBX5 ZNF207 SELPLG PWP1 SART3 PRDM4 UBE3B RNU4-32P CORO1C FICD LOC101929162 TMEM119
GH12I108559 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 19.9 -911.8 -911827 12.4 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SART3 ISCU PWP1 FICD UBE3B PRDM4 GC12P108558 TMEM119 GC12M108565 GC12P108510
GH12I109051 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.6 -423.9 -423908 3.1 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 USP30 USP30-AS1 SART3 RNU4-32P ALKBH2 UBE3B WSCD2 TCHP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UBE3B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UBE3B gene promoter:

Genomic Locations for UBE3B Gene

Genomic Locations for UBE3B Gene
chr12:109,477,402-109,543,628
(GRCh38/hg38)
Size:
66,227 bases
Orientation:
Plus strand
chr12:109,915,207-109,974,507
(GRCh37/hg19)

Genomic View for UBE3B Gene

Genes around UBE3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for UBE3B Gene

Q7Z3V4:
  • LKFVTSCSRPPLLGF
  • LPTSSTC

Post-translational modifications for UBE3B Gene

No Post-translational modifications

Domains & Families for UBE3B Gene

Gene Families for UBE3B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for UBE3B Gene

Function for UBE3B Gene

Molecular function for UBE3B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
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

Phenotypes From GWAS Catalog for UBE3B Gene

Gene Ontology (GO) - Molecular Function for UBE3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016874 ligase activity IEA --
GO:0061630 ubiquitin protein ligase activity IBA --
genes like me logo Genes that share ontologies with UBE3B: view
genes like me logo Genes that share phenotypes with UBE3B: view

Human Phenotype Ontology for UBE3B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for UBE3B Gene

Clone Products

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

Localization for UBE3B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBE3B gene
Compartment Confidence
mitochondrion 3
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBE3B Gene

GO ID Qualified GO term Evidence PubMed IDs
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 & Interactions for UBE3B Gene

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

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 IEA --
genes like me logo Genes that share ontologies with UBE3B: view

No data available for SIGNOR curated interactions for UBE3B Gene

Drugs & Compounds for UBE3B Gene

(3) Drugs for UBE3B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for UBE3B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for UBE3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBE3B Gene

This gene is overexpressed in Heart (22.7), Platelet (10.7), and Frontal cortex (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBE3B Gene



NURSA nuclear receptor signaling pathways regulating expression of UBE3B Gene:

UBE3B

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.

Evidence on tissue expression from TISSUES for UBE3B Gene

  • Nervous system(4.8)
  • Lung(4.3)
  • Skin(4.3)
  • Kidney(2.3)
  • Muscle(2.2)
  • Heart(2.1)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE3B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • vagina
  • vulva
Limb:
  • digit
  • femur
  • finger
  • foot
  • hand
  • hip
  • lower limb
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with UBE3B: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia UBE3B 33 34
  • 91.23 (n)
cow
(Bos Taurus)
Mammalia UBE3B 33 34
  • 89.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ube3b 33
  • 86.36 (n)
mouse
(Mus musculus)
Mammalia Ube3b 33 16 34
  • 86.11 (n)
oppossum
(Monodelphis domestica)
Mammalia UBE3B 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 97 (a)
OneToMany
-- 34
  • 96 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
LOC776286 33
  • 78.03 (n)
lizard
(Anolis carolinensis)
Reptilia UBE3B 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube3b 33
  • 74.44 (n)
zebrafish
(Danio rerio)
Actinopterygii ube3b 33 34
  • 73.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005897 33
  • 55.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5087 35 33 34
  • 54.9 (n)
worm
(Caenorhabditis elegans)
Secernentea oxi-1 33 34
  • 47.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL5 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 9 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14141 33
Species where no ortholog for UBE3B was found in the sources mined by GeneCards:
  • 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

(5) 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 Variation AA Info Type
rs398123020 pathogenic, Kaufman oculocerebrofacial syndrome 109,509,716(+) T/C downstream_transcript_variant, genic_downstream_transcript_variant, splice_donor_variant
rs398123021 pathogenic, Kaufman oculocerebrofacial syndrome 109,521,290(+) AGAGAG/AGAG coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs398123022 pathogenic, Kaufman oculocerebrofacial syndrome 109,489,917(+) A/G splice_acceptor_variant
rs398123023 pathogenic, Kaufman oculocerebrofacial syndrome, Kaufman oculocerebrofacial syndrome (KOS) [MIM:244450] 109,521,251(+) A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs539407162 likely-pathogenic, Inborn genetic diseases 109,533,533(+) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3630719 CNV gain 21293372
nsv560118 CNV loss 21841781

Variation tolerance for UBE3B Gene

Residual Variation Intolerance Score: 1.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.85; 48.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBE3B Gene

Human Gene Mutation Database (HGMD)
UBE3B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE3B

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

Disorders for UBE3B Gene

MalaCards: The human disease database

(10) MalaCards diseases for UBE3B Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UBE3B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UBE3B_HUMAN
  • Kaufman oculocerebrofacial syndrome (KOS) [MIM:244450]: A syndrome 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.

Additional Disease Information for UBE3B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UBE3B: view

No data available for Genatlas for UBE3B Gene

Publications for UBE3B Gene

  1. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. (PMID: 23200864) Basel-Vanagaite L … Borck G (American journal of human genetics 2012) 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing. (PMID: 12837265) Gong TW … Lomax MI (Genomics 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for UBE3B Gene

Sources for UBE3B Gene

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