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Ube3a
Gene Detail
 Symbol
Name
ID
Ube3a
ubiquitin protein ligase E3A
MGI:105098
Synonyms 5830462N02Rik, A130086L21Rik, E6-AP ubiquitin protein ligase, Hpve6a
Feature Type protein coding gene
Genetic Map
Chromosome 7
33.95 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr7:59228752-59306727 bp, + strand
From Ensembl annotation of GRCm38

  77976 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7988  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: ubiquitin-protein ligase E6-AP
Gene Tree: Ube3a

Human
homologs
Human Homolog UBE3A, ubiquitin protein ligase E3A
NCBI Gene ID 7337
neXtProt AC  NX_Q05086
Human Synonyms  ANCR, AS, E6-AP, EPVE6AP, HPVE6A
Human Chr (Location)  15q11.2; chr15:25337245-25439043 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human UBE3A
Mutations,
alleles, and
phenotypes
All mutations/alleles(41) : Gene trapped(29) Targeted(11) Transgenic(1)
Genomic Mutations involving Ube3a (4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Ube3a (1)    Alleles Annotated to Human Diseases(4)   
Interactions
Ube3a interacts with 399 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process androgen receptor signaling pathway, ovarian follicle development, ...
Component cytoplasm, cytosol, ...
Function coenzyme F420-0 gamma-glutamyl ligase activity, coenzyme F420-2 alpha-glutamyl ligase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (48)    Tissues (33)    Images (10)
Theiler Stages: 16, 19, 23, 24, 27, 28
Assay TypeResults
RNA in situ 28
Northern blot 3
RT-PCR 17
cDNA source data(17)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(26) cDNA(22) Primer pair(4)
Microarray probesets(7)
Other database
links
Ensembl Gene ModelENSMUSG00000025326 (Evidence)
Entrez Gene22215 (Evidence)
EC6.3.2.-
Consensus CDS ProjectCCDS39973.1
International Mouse Knockout Project StatusUbe3a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000025326 Ensembl Gene Model | MGI Sequence Detail 77976 C57BL/6J ±  kb
transcript ENSMUST00000107537 Ensembl | MGI Sequence Detail 5097 Not Applicable 
polypeptide ENSMUSP00000103161 Ensembl | MGI Sequence Detail 870 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(18) UniProt(6)
Polymorphisms RFLP(1) : SNPs within 2kb(300 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000569 HECT
InterPro IPR017134 Ubiquitin-protein ligase E6-AP
Protein Ontology PR:000016992 ubiquitin-protein ligase E3A
References (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:210453 Pignatelli M, et al., Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome. J Neurosci. 2014 Mar 26;34(13):4558-66
All references(100)
Disease annotation references (8)
Other
accession IDs
MGD-MRK-32138, MGI:1923347, MGI:2444288

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
09/09/2014
MGI 5.19
The Jackson Laboratory