About   Help   FAQ
Ube3b Gene Detail
Summary
  • Symbol
    Ube3b
  • Name
    ubiquitin protein ligase E3B
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891295
    NCBI Gene: 117146
Location & Maps
more
  • Sequence Map
    Chr5:114380607-114421169 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      40563 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 55.99 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    UBE3B, ubiquitin protein ligase E3B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    UBE3B, ubiquitin protein ligase E3B
    Orthology source: HomoloGene
  • Synonyms
    BPIDS, KOS
  • Links
    NCBI Gene ID: 89910
    neXtProt AC: NX_Q7Z3V4

  • Chr Location
    12q24.11; chr12:109477410-109543628 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 13775
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: UBE3B
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ube3b mouse models; 1 with human UBE3B associations

Human Disease Mouse Models
       Kaufman Oculocerebrofacial Syndrome; KOS   OMIM: 244450 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    30 phenotypes from 1 allele in 2 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Gene trapped
    6
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Ube3b
  • Incidental Mutations
Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014459 VEGA Gene Model | MGI Sequence Detail 40563 C57BL/6J ±  kb
transcript OTTMUST00000034306 VEGA | MGI Sequence Detail 5194 Not Applicable  
polypeptide OTTMUSP00000015362 VEGA | MGI Sequence Detail 1070 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    368 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 219
    cDNA 218
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2140892, MGI:2141051
References
more
  • Summaries
    All 32
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 3
    Phenotypes 12
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:203652 Basel-Vanagaite L, et al., Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):998-1010

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/12/2016
MGI 6.04
The Jackson Laboratory