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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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:58878498-58961284 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 33.95 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1151 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105098
 protein coding gene Chr7:58871891-58961284 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032322
 protein coding gene Chr7:60025818-60102575 (+)
A/J MGP_AJ_G0032301
 protein coding gene Chr7:59174658-59249746 (+)
AKR/J MGP_AKRJ_G0032237
 protein coding gene Chr7:60468168-60552745 (+)
BALB/cJ MGP_BALBcJ_G0032313
 protein coding gene Chr7:58765739-58845402 (+)
C3H/HeJ MGP_C3HHeJ_G0032026
 protein coding gene Chr7:60808653-60885237 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032806
 protein coding gene Chr7:62777210-62860954 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029813
 protein coding gene Chr7:61625973-61696696 (+)
CAST/EiJ MGP_CASTEiJ_G0031355
 protein coding gene Chr7:52026641-52114970 (+)
CBA/J MGP_CBAJ_G0031991
 protein coding gene Chr7:64965443-65049344 (+)
DBA/2J MGP_DBA2J_G0032148
 protein coding gene Chr7:58117110-58194067 (+)
FVB/NJ MGP_FVBNJ_G0032102
 protein coding gene Chr7:58085182-58158631 (+)
LP/J MGP_LPJ_G0032229
 protein coding gene Chr7:61170198-61250837 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032139
 protein coding gene Chr7:64575208-64739320 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032823
 protein coding gene Chr7:59532695-59608969 (+)
PWK/PhJ MGP_PWKPhJ_G0031075
 protein coding gene Chr7:51305546-51384113 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030916
 protein coding gene Chr7:47469667-47551952 (+)
WSB/EiJ MGP_WSBEiJ_G0031473
 protein coding gene Chr7:60109166-60183248 (+)



Homology
more
  • Human Ortholog
    UBE3A, ubiquitin protein ligase E3A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UBE3A, ubiquitin protein ligase E3A
  • Synonyms
    ANCR, AS, E6-AP, EPVE6AP, HPVE6A, PIX1
  • Links
    NCBI Gene ID: 7337
    neXtProt AC: NX_Q05086
    UniProt: Q05086

  • Chr Location
    15q11.2; chr15:25333728-25439056 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ube3a mouse models; 1 with human UBE3A associations

Human Disease Mouse Models
      
IDs
 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    70 phenotypes from 6 alleles in 9 genetic backgrounds
    6 phenotypes from multigenic genotypes
    193 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.
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. A gain-of-function mutation affects different behaviors depending on allele parent-of-origin.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    58
  • GO References
    14
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    799
  • Tissues
    46
  • cDNA Data
    20
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025326 Ensembl Gene Model | MGI Sequence Detail 82787 C57BL/6J ±  kb
    transcript ENSMUST00000200758 Ensembl | MGI Sequence Detail 9856 Not Applicable  
    polypeptide ENSMUSP00000143859 Ensembl | MGI Sequence Detail 870 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 25
      Primer pair 5
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-32138, MGI:1923347, MGI:2444288
    References
    more
    • Summaries
      All 258
      Developmental Gene Expression 24
      Diseases 8
      Gene Ontology 14
      Phenotypes 193
    • Earliest
      J:29903 Russell LB, et al., Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse. Genetics. 1995 Dec;141(4):1547-62
    • Latest
      J:353092 Vihma H, et al., Ube3a unsilencer for the potential treatment of Angelman syndrome. Nat Commun. 2024 Jul 8;15(1):5558
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory