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 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; chr15:25582396-25684175 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human UBE3A

Alleles and phenotypes

All alleles(37) : Targeted(8) Gene trapped(29)
 

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(2)   

Gene Ontology (GO) classifications

All GO classifications: (21 annotations)

Process	androgen receptor signaling pathway, metabolic process, ...
Component	cytoplasm, cytosol, ...
Function	ligase activity, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (11 records)
Data Summary: Results (48)    Tissues (32)    Images (10)
Theiler Stages: 16, 19, 23, 24, 28

Assay Type	Results
RNA in situ	28
Northern blot	3
RT-PCR	17

cDNA source data(17)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(26) cDNA(22) Primer pair(4)
Microarray probesets(7)

Other database links

Ensembl Gene Model	ENSMUSG00000025326 (Evidence)
Entrez Gene	22215 (Evidence)
EC	6.3.2.-
Consensus CDS Project	CCDS39973.1
International Mouse Knockout Project Status	Ube3a

Sequences

Length	Strain/Species
genomic	ENSMUSG00000025326	Ensembl Gene Model | MGI Sequence Detail	77976	C57BL/6J
transcript	ENSMUST00000107537	Ensembl | MGI Sequence Detail	5097	Not Applicable
polypeptide	ENSMUSP00000103161	Ensembl | MGI Sequence Detail	870	Not Applicable

All sequences(41) RefSeq(6) UniProt(6)

Polymorphisms

RFLP(1) : SNPs(126 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194528 Cao C, et al., Impairment of TrkB-PSD-95 signaling in Angelman syndrome. PLoS Biol. 2013 Feb;11(2):e1001478
All references(90)

Other accession IDs

MGD-MRK-32138, MGI:1923347, MGI:2444288