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Ube3a Gene Detail
Summary
  • Symbol
    Ube3a
  • Name
    ubiquitin protein ligase E3A
  • Synonyms
    5830462N02Rik, A130086L21Rik, E6-AP ubiquitin protein ligase, Hpve6a
  • Feature Type
    protein coding gene
  • IDs
    MGI:105098
    NCBI Gene: 22215
  • Gene Overview
    MyGene.info: UBE3A
Location & Maps
more
  • Sequence Map
    Chr7:59228750-59311536 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      82787 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 33.95 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    UBE3A, ubiquitin protein ligase E3A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    UBE3A, ubiquitin protein ligase E3A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ANCR, AS, E6-AP, EPVE6AP, HPVE6A
  • Links
    NCBI Gene ID: 7337
    neXtProt AC: NX_Q05086

  • Chr Location
    15q11.2; chr15:25337234-25439043 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ube3a mouse models; 1 with human UBE3A associations

Human Disease Mouse Models
       Angelman Syndrome; AS   OMIM: 105830 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    21 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 3 alleles in 6 genetic backgrounds
    6 phenotypes from multigenic genotypes
    93 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
    47
  • Gene trapped
    29
  • Radiation induced
    2
  • Targeted
    12
  • Transgenic
    4
  • Genomic Mutations
    6 involving Ube3a
  • Incidental Mutations
Mice with maternally inherited targeted null mutations exhibit reduced brain weight, impaired motor function, inducible seizures, learning deficits, abnormal hippocampal electroencephalographic recordings, and severely impaired long-term potentiation.
Gene Ontology
(GO)
Classifications
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  • 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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000055999 VEGA Gene Model | MGI Sequence Detail 82787 C57BL/6J ±  kb
transcript OTTMUST00000138507 VEGA | MGI Sequence Detail 9856 Not Applicable  
polypeptide OTTMUSP00000072811 VEGA | MGI Sequence Detail 870 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    318 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    18 Sequences
  • Protein Ontology
    PR:000016992 ubiquitin-protein ligase E3A
  • EC
  • InterPro Domains
    IPR000569 HECT domain
    IPR017134 Ubiquitin-protein ligase E3A
    IPR032353 Ubiquitin-protein ligase E3A, N-terminal zinc-binding domain
Molecular
Reagents
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  • All nucleic 28
    cDNA 23
    Primer pair 5

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-32138, MGI:1923347, MGI:2444288
References
more
  • Summaries
    All 116
    Developmental Gene Expression 15
    Diseases 21
    Gene Ontology 8
    Phenotypes 93
  • Earliest
    J:29904 Johnson DK, et al., Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus. Genetics. 1995 Dec;141(4):1563-71
  • Latest
    J:227832 Santini E, et al., Mitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice. J Neurosci. 2015 Dec 9;35(49):16213-20

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory