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Annotation Detail for UBE3A

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Basic Information Top
Gene Symbol:UBE3A ( ANCR,AS,E6-AP,EPVE6AP,FLJ26981,HPVE6A )
Gene Full Name: ubiquitin protein ligase E3A
Band: 15q11.2
Quick LinksEntrez ID:7337; OMIM: 601623; Uniprot ID:UBE3A_HUMAN; ENSEMBL ID: ENSG00000114062
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000502IEA-proteasome complex-
GO ID Evidence Qualifier GO_term References
GO:0003713IEA-transcription coactivator activity-
GO:0004842IDA-ubiquitin-protein ligase activity12890688
GO:0005515IPI-protein binding16493710
GO:0016874IEA-ligase activity-
GO:0016881IEA-acid-amino acid ligase activity-
GO ID Evidence Qualifier GO_term References
GO:0001541IEA-ovarian follicle development-
GO:0006464IEA-protein modification process-
GO:0006511TAS-ubiquitin-dependent protein catabolic process8221889
GO:0007420TAS-brain development8988171
GO:0014068IEA-positive regulation of phosphatidylinositol 3-kinase cascade-
GO:0030521IEA-androgen receptor signaling pathway-
GO:0035037IEA-sperm entry-
GO:0042787ISS-protein ubiquitination involved in ubiquitin-dependent protein catabolic process-
GO:0044419IEA-interspecies interaction between organisms-
GO:0045944IEA-positive regulation of transcription from RNA polymerase II promoter-
GO:0060736IEA-prostate gland growth-
GO:0070936IDA-protein K48-linked ubiquitination12890688
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
UBE3ABARD110705612890688 Reconstituted Complex
UBE3ABARD111318512890688 Reconstituted Complex
UBE3ABLK10710910449731 Reconstituted Complex
UBE3ABLK11318510449731 Reconstituted Complex
UBE3ABRCA111318512890688 Reconstituted Complex
UBE3ABRCA110714012890688 Reconstituted Complex
UBE3AESR111318516314411 Affinity Capture-Western
UBE3AESR110840316314411 Affinity Capture-Western
UBE3AESR211318517962381 Affinity Capture-Western
UBE3AESR210840417962381 Affinity Capture-Western
UBE3ALCK11318510449731 Reconstituted Complex; Two-hybrid
UBE3ALCK11012410449731 Reconstituted Complex; Two-hybrid
UBE3AMCM71103449852095 Affinity Capture-Western; Reconstituted Complex
UBE3AMCM71131859852095 Affinity Capture-Western; Reconstituted Complex
UBE3APGR1112609891052 Reconstituted Complex; Two-hybrid
UBE3APGR1131859891052 Reconstituted Complex; Two-hybrid
UBE3ATSC211310015175323 18298802 Affinity Capture-Western; Reconstituted Complex
UBE3ATSC211318515175323 18298802 Affinity Capture-Western; Reconstituted Complex
UBE3AUBE2D11131858576257 10066826 Biochemical Activity
UBE3AUBE2D11131698576257 10066826 Biochemical Activity
UBE3AUBE2D21131859182527 9990509 Biochemical Activity; Reconstituted Complex; Two-hybrid
UBE3AUBE2D21131709182527 9990509 Biochemical Activity; Reconstituted Complex; Two-hybrid
UBE3AUBE2D31131859990509 Biochemical Activity
UBE3AUBE2D31131719990509 Biochemical Activity
UBE3AUBE2L31131858576257 9990509 10558980 11431533 Affinity Capture-Western; Biochemical Activity; Co-crystal Structure
UBE3AUBE2L31131808576257 9990509 10558980 11431533 Affinity Capture-Western; Biochemical Activity; Co-crystal Structure
UBQLN2UBE3A11900610983987 Affinity Capture-Western; Co-fractionation; Two-hybrid
UBQLN2UBE3A11318510983987 Affinity Capture-Western; Co-fractionation; Two-hybrid
UBQLN1UBE3A11900710983987 Affinity Capture-Western; Two-hybrid
UBQLN1UBE3A11318510983987 Affinity Capture-Western; Two-hybrid
BPY2UBE3A11453912207887 Affinity Capture-Western; Two-hybrid
BPY2UBE3A11318512207887 Affinity Capture-Western; Two-hybrid
No data
No data
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_7051 chr15:22967152-23432303 17666407 Agilent 185k CGH Arrays/Agilent Custom CGH Arrays 2 0 2- 50 control samples (French) SNORD115-11, SNORD115-19, HBII-52-28, SNORD115-2, SNORD115-4, SNORD115-48, SNORD115-22, PAR4, SNORD115-10, SNORD115-20, SNORD109B, SNORD115-30, SNORD115-21, SNORD115-16, SNORD115-41, SNORD109A, SNORD115-24, SNORD115-18, SNORD115-5, SNORD115-8, SNORD115-38, SNORD115-13, SNORD115-34, HBII-52-45, SNORD115-43, SNORD115-33, SNORD115-3, SNORD115-42, SNORD115-32, SNORD115-36, SNORD115-44, HBII-52-46, SNORD115-15, SNORD115-6, SNORD115-7, SNORD115-26, SNORD115-23, HBII-52-27, SNORD115-37, SNORD115-12, SNORD115-35, SNORD115-9, SNORD115-29, SNORD115-40, SNORD115-39, SNORD115-17, SNORD115-31, SNORD115-25, SNORD115-14, UBE3A
Variation_108535 chr15:23156327-23162501 20482838 Paired End Mapping 0 1 1- 1 control sample (J. Craig Venter) UBE3A
No data
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:105098
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:2181811Ube3a[tm1Alb]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • growth/size phenotype
  • endocrine/exocrine gland phenotype
  • cellular phenotype
  • behavior/neurological phenotype
  • reproductive system phenotype
MGI:2182454Ube3a[tm1Jwf]Allele from Mouse Targeted (Reporter)
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:3771814Ube3a[tm2Alb]Allele from Mouse Targeted (Reporter)
  • nervous system phenotype
  • cellular phenotype
MGI:4419413Ube3a[tm1e(KOMP)Wtsi]Mutant from cell lines70772
MGI:4419739Ube3a[tm1a(KOMP)Wtsi]Mutant from cell lines70772
FB Allele ID FB Allele Symbol Phenotype
FBal0241530Ube3a[Delta15-8]dorsal multidendritic neuron ddaC
dorsal multidendritic neuron ddaC (with Ube3a[Δ3-8])
with Ube3a[GD450]
dorsal multidendritic neuron ddaE
dorsal multidendritic neuron ddaF
neuroanatomy defective
neuroanatomy defective (with Ube3a[Δ3-8])

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

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