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UBE3A Gene

protein-coding GIFtS: 72

GC15M023133

ubiquitin protein ligase E3A
(Previous name: human papilloma virus E6-associated protein )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: EPVE6AP, HPVE6A)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ANCR ^¹, ², ⁵
AS ^¹, ²
E6-AP ^¹, ²
E6AP ^³
EC 6.3.2.- ^³
EPVE6AP ^², ³
FLJ26981 ^¹, ²
HPVE6A ^², ³

Descriptions
CTCL tumor antigen se37-2 ^²
E6AP ubiquitin-protein ligase ^³
Human papillomavirus E6-associated protein ^³
Oncogenic protein-associated protein E6-AP ^², ³
Renal carcinoma antigen NY-REN-54 ^³
human papilloma virus E6-associated protein ^¹, ²
ubiquitin protein ligase E3A ^²

External Ids
HGNC: 12496¹
Entrez Gene: 7337²
UniProtKB: Q05086³
Ensembl: ENSG00000114062⁷

Search outside databases for aliases for UBE3A gene

Previous GC identifers: GC15M021711 GC15M018295 GC15M023000 GC15M023129

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for UBE3A:

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system.

This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues.

Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor

and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic

facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18,

resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this

gene results in three transcript variants encoding three isoforms with different N-termini.

Additional transcript variants have been described, but their full length nature has not been

determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086

Function: Interacts with the E6 protein of the cancer-associated human papillomavirus types 16 and

18. The E6/E6-AP complex binds to and targets the p53 tumor-suppressor protein for

ubiquitin-mediated proteolysis. It is an E3 ubiquitin-protein ligase which accepts ubiquitin from

an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the

ubiquitin to targeted substrates. It can target itself for ubiquitination in vitro and efficiently

promotes its own degradation in vivo. It appears that only unmodified E6-AP molecules can bind

efficiently to p53 in the presence of the HPV E6 oncoprotein

Gene Wiki entry for UBE3A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the UBE3A gene

Entrez Gene cytogenetic band: 15q11-q13 Ensembl cytogenetic band: 15q11.2 HGNC cytogenetic band: 15q11-q13

UBE3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M023133: (about GC identifiers)

Start:	23,133,489 bp from pter
End:	23,235,221 bp from pter
Size:	101,733 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000015.8 NT_026446.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086 (See protein sequence)

Recommended Name: Ubiquitin-protein ligase E3A

Size: 875 amino acids; 100688 Da

Subunit: Binds UBQLN1 and UBQLN2. Interacts with the 26S proteasome. Interacts with HCV core

protein and targets it to degradation

Subcellular location: Nucleus (Probable)

Miscellaneous: A cysteine residue is required for ubiquitin-thioester formation

PDB structures from and Proteopedia :

1C4Z (3D)

1D5F (3D)

1EQX (3D)

Secondary accessions: P78355 Q93066 Q9UEP4 Q9UEP5 Q9UEP6 Q9UEP7 Q9UEP8 Q9UEP9

Alternative splicing: 3 isoforms: Q05086-1 Q05086-2 Q05086-3

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000453.2 NP_570853.1 NP_570854.1

ENSEMBL proteins:

ENSP00000348850 ENSP00000232165 ENSP00000381045

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (UBE3A)
	Human Recombinant Proteins from Abnova (UBE3A)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	IEA	--
GO:0005829	cytosol	IEA	--
GO:0043234	protein complex	IEA	--

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Antibodies for UBE3A:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of UBE3A
	Sigma-Aldrich Antibodies for UBE3A
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (UBE3A), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (UBE3A)
	Novus Biologicals Antibodies for UBE3A

Assays for UBE3A:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q05086

ProtoNet protein and cluster: Q05086

1 Blocks protein family: IPB000569 HECT domain (Ubiquitin-protein ligase)

UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086

Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (UBE3A)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (UBE3A)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000462

Applied Biosystems Silencer® siRNAs for UBE3A

Sigma-Aldrich siRNA and siRNA Panels for UBE3A

Sigma-Aldrich shRNA Panels and shRNA for UBE3A

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for UBE3A
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000462
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000462
untagged cDNA clones in CMV expression vector (see all 3): NM_000462

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000462

UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086

Function: Interacts with the E6 protein of the cancer-associated human papillomavirus types 16 and

18. The E6/E6-AP complex binds to and targets the p53 tumor-suppressor protein for

ubiquitin-mediated proteolysis. It is an E3 ubiquitin-protein ligase which accepts ubiquitin from

an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the

ubiquitin to targeted substrates. It can target itself for ubiquitination in vitro and efficiently

promotes its own degradation in vivo. It appears that only unmodified E6-AP molecules can bind

efficiently to p53 in the presence of the HPV E6 oncoprotein

Enzyme Number (IUBMB): EC 6.3.2.-

Genatlas biochemistry entry for UBE3A:

ubiquitin protein ligase E3A,recognin,mediating the interaction of the human papilloma virus E6

oncoprotein with TP53 nuclear hormone coactivator receptors,paternally imprinted in brain,mutated

in Angelman syndrome,homologous to Drosophila bendless,Dres32,mouse homolog,expressed at high

levels in all embryonic structures,playing a major role in neural development,involved in the

degradation of short-lived and abnormal proteins

7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ube3a):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size	lethality-postnatal
nervous system	reproductive system

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004842	ubiquitin-protein ligase activity	IEA	--
GO:0005515	protein binding	IPI	16493710
GO:0016874	ligase activity	IEA	--
GO:0016881	acid-amino acid ligase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for UBE3A (Your Favorite Gene powered by Ingenuity)

Protein Ubiquitination Pathway

GeneDecks UBE3A for the pathways selected above

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UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086

Pathway: Protein modification; protein ubiquitination

Gene Network Central^TM Interacting Genes and Proteins Network for UBE3A

5/102 Interacting proteins for UBE3A (ENSP00000232165³ Q05086^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 102 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RARA	P10276²	STRING (score=.734) MINT-2862542
SCRIB	Q14160²	STRING (score=.822) MINT-68733
E6 E6 (xeno)	P06463¹^,²	EBI-954357, EBI-1186926 MINT-73441
TP53	P04637¹^,²	STRING (score=.995) EBI-954357, EBI-366083 MINT-6628330 EBI-954357, EBI-366083 MINT-6628330
TP53	P04637¹^,²	STRING (score=.995) EBI-954357, EBI-366083 MINT-6628330 EBI-954357, EBI-366083 MINT-6628330

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006464	protein modification process	IEA	--
GO:0006508	proteolysis	TAS	8221889
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	8221889
GO:0007420	brain development	TAS	8988171
GO:0044419	interspecies interaction between organisms	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for UBE3A
8 Novoseek chemical compound relationships for UBE3A gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hpvs	76.38	4	10864652 (1), 18793139 (1), 19177752 (1)
lysine	13.72	3	10864652 (1), 11046142 (1), 17433363 (1)
atp	0.00	1	8034027 (1)
steroid	0.00	4	18432313 (2), 12732288 (1), 15691896 (1)
zinc	0.00	2	10413422 (1), 10400710 (1)
tyrosine	0.00	3	10449731 (2), 7478539 (1)
benzodiazepine	0.00	1	11198279 (1)
gold	0.00	1	16493710 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (UBE3A)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (UBE3A)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000462

Sigma-Aldrich siRNA and siRNA Panels for UBE3A

Sigma-Aldrich shRNA Panels and shRNA for UBE3A

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000462 NM_130838 NM_130839

REFSEQ mRNAs for UBE3A gene (3 alternative transcripts):

NM_000462.2 NM_130838.1 NM_130839.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000462 NM_130838 NM_130839

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000462
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000462
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000462

Additional cDNA sequence:

AB194232.1 AF002224.1 AF002225.1 AF037219.1 AF273050.1 AK026293.1 AK056239.1 AK130491.1

AK291405.1 AK292514.1 AL049363.1 AL831842.1 BC002582.2 BC009271.1 L07557.1 U84404.1

X98031.1 X98032.1 X98033.1

24/27 DOTS entries (see all 27 ):

DT.95130430 DT.75193435 DT.100039604 DT.91780874 DT.95128484 DT.97811226 DT.121035864 DT.95113709

DT.91723398 DT.91780860 DT.121035674 DT.121035519 DT.121035651 DT.121035785 DT.121035817 DT.75142239

DT.91780807 DT.92004819 DT.100031879 DT.121035667 DT.121130034 DT.205633 DT.95130426 DT.95130433

24/481 AceView cDNA sequences (see all 481 ):

CK904326 AI394090 AI480145 BF197041 AI866982 BE858945 BF434588 AI564150

CA438427 AI201778 BF001468 AI056465 NM_000462 BQ001461 CA444188 AA745240

BE858791 D61475 AA747732 NM_130838 AA463734 BQ023908 AK056239 BF447023

highest scoring ESTs for UBE3A:

AF002224 AI261795 U84404 AA113896 AA576441 AA628032 AA878941 AA994920 AI056465 AI151486

Unigene Cluster for UBE3A:

Ubiquitin protein ligase E3A

Hs.598862 [show with all ESTs]

Unigene Representative Sequence: NM_130839

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for UBE3A (see all 12 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	·	8d	·	8e	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16	^
SP1:
SP2:									-								-		-		-
SP3:																	-		-		-
SP4:
SP5:

ExUns:	17
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for UBE3A

3 Ensembl transcripts including schematic representations:

ENST00000356465 ENST00000232165 ENST00000397954

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

UBE3A expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for UBE3A

¹ / ² / ³

17 probe-sets matching UBE3A gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
41205_at²^{, 3}	U95-A	1	1.00	1.00	0.71	1.32	U84404	1.00	1.00	1.00	1
1194_g_at²^{, 3}	U95-A	1	1.00	1.00	0.86	0.47	AF002224	1.00	1.00	1.00	1
78423_r_at²^{, 3}	U95-E	1	1.00	1.00	0.41	1.41	AI261795	1.00	1.00	1.00	1
1193_at²^{, 3}	U95-A	1	1.00	1.00	0.58	0.34	AF002224	1.00	1.00	1.00	1
1725_s_at²^{, 3}	U95-A	2	1.00	0.75	0.90	0.84	HG884-HT884	0.20	1.00	0.72	1
211575_s_at²	U133-A	1	1.00	1.00	--	--	--	--	--	--	--
213128_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA527499	0.60	1.00	0.82	1
213291_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA160522	0.60	1.00	0.82	1
211285_s_at²^{, 3}	U133-A	2	1.00	0.86	--	--	U84404	1.00	1.00	1.00	1
212278_x_at²^{, 3}	U133-A	1	0.82	1.00	--	--	BF588511	0.80	1.00	0.91	1
214980_at*²^{, 3}	U133-A	1	1.00	1.00	--	--	AF037219	0.40	1.00	0.76	1
211575_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
213128_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
213291_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211285_s_at²	U133Plus2	2	1.00	0.86	--	--	--	--	--	--	--
212278_x_at²	U133Plus2	1	0.82	1.00	--	--	--	--	--	--	--
214980_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks UBE3A for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CTGTAAAACA

SOURCE GeneReport for Unigene cluster: Hs.598862
Expression variation in blood from EXPOLDB for UBE3A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for UBE3A gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	UBE3A¹	--	ubiquitin protein ligase E3A	95.98(n) 98.74(a)	479010 XM_843147.1 XP_848240.1
chimpanzee (Pan troglodytes)	UBE3A¹	--	ubiquitin protein ligase E3A	99.92(n) 100(a)	453269 XM_001161311.1 XP_001161311.1
cow (Bos taurus)	UBE3A¹	--	ubiquitin protein ligase E3A	94.91(n) 97.24(a)	533136 XM_612444.3 XP_612444.3
rat (Rattus norvegicus)	Ube3a¹	--	ubiquitin protein ligase E3A	93.07(n) 96.69(a)	361585 XM_341867.3 XP_341868.3
mouse (Mus musculus)	Ube3a^{1, 5}	7 (28.65 cM)⁵	ubiquitin protein ligase E3A^{1, 5}	93.56(n)¹ 96.2(a)¹	22215¹ NM_011668.2¹ NP_035798.2¹ AI449114⁵ AK006957⁵ (see all 24)

About this table Species with no ortholog for UBE3A

ENSEMBL Gene Tree for UBE3A

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for UBE3A gene

HECTD2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/496 NCBI SNPs in UBE3A are shown (see all 496 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 163)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1041933^1,2	A,C,F,H,O	23205842(-)	`TTTTAA/GTCAGT`	2	--	ng3¹ int¹		5	NA EU EA WA	434
	rs2257252^1,2	A,C,F,H	23236855(+)	`ACTTAG/TAGGTA`	1	--	ng3¹		4	EU EA WA	418
	rs2526025^1,2	A,C,F,H	23236559(+)	`GAAGAC/ATTTAA`	1	--	ng3¹		6	EU EA WA NA	602
	rs17115567^1,2	C,F,H	23206019(+)	`GATAGA/GGCAAT`	2	--	int¹ ng3¹		11	NA EU EA WA	980
	rs8179187^1,2	C,F,H	23203419(+)	`CATTTT/GTGAAA`	3	--	int¹ ng3¹		11	EU EA WA NA	982
	rs8032479^1,2	C,F,H	23203194(+)	`CATAAG/CAACTA`	3	--	int¹ ng3¹		4	EU EA WA	420
	rs6420957^1,2	C,F,H	23202636(+)	`TCTCTT/CATGTA`	3	--	int¹ ng3¹		7	EU EA WA NA	558
--	rs1059383^1,2	C,H	23167554(-)	`TATCGT/GAATGG`	3	G/V	mis¹		5	MN EU EA WA	590
	rs7170449^1,2	H	23201933(+)	`AAGGGT/CTGGAC`	3	--	int¹ ng3¹		4	EU EA WA	416
--	rs17115482^1,2	F	23133673(+)	`CCCATG/TTTACC`	3	--	ut3¹		1	MN	184

About this table

HapMap Linkage Disequilibrium images for UBE3A (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 601623 disorders: 105830

UniProtKB/Swiss-Prot: UBE3A_HUMAN, Q05086

Defects in UBE3A are a cause of Angelman syndrome (AS) [MIM:105830]; also known as 'happy

puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation,

microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia,

hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of

paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and

open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an

occipital groove

10/22 Novoseek disease relationships for UBE3A gene (see all 22 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
angelman syndrome	96.98	89	18487518 (4), 9321755 (3), 18701717 (3), 11258627 (3) (see all 66)
prader-willi syndrome	84.33	6	11350123 (1), 17680527 (1), 10400982 (1), 9601023 (1) (see all 6)
rett syndrome	72.67	3	15757975 (1), 15615769 (1), 15866439 (1)
severe mental retardation	69.44	1	9891052 (1)
cervical cancer	62.56	15	10726657 (2), 15994823 (1), 19159528 (1), 10864652 (1) (see all 10)
speech impairment	58.05	2	9891052 (1), 10424818 (1)
papilloma	56.93	11	17131388 (2), 7615550 (1), 9182527 (1), 10373495 (1) (see all 9)
mental retardation	54.95	3	9321755 (1), 17036311 (1), 18193166 (1)
autistic	49.86	3	10089011 (1), 15521981 (1), 11353404 (1)
cervical carcinoma	47.78	2	8397367 (1), 15731267 (1)

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1 PharmGKB disease relationship for UBE3A gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Autistic Disorder	GN	10089011

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GeneTests: UBE3A

Angelman Syndrome

Human Gene Mutation Database: UBE3A
Genetic Association Database: UBE3A
Human Genome Epidemiology Navigator: UBE3A (4 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/258 PubMed articles for UBE3A gene (see all 258 ):

The ubiquitin-protein ligase E6-associated protein (E6-AP) serves as its own substrate. (PubMed id 9688277)^{1, 3, 4} Nuber U.... Scheffner M. (1998)
The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. (PubMed id 9143503)^{1, 3, 4} Yamamoto Y.... Howley P.M. (1997)
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. (PubMed id 8988172)^{1, 3, 4} Matsuura T....Beaudet A.L. (1997)
UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. (PubMed id 15054837)^{1, 3, 6} Rapakko K....Leisti J. (2004)
Mutation analysis of UBE3A in Angelman syndrome patients. (PubMed id 9585605)^{1, 3, 4} Malzac P.... Wagstaff J. (1998)
Solution structure determination and mutational analysis of the papillomavirus E6 interacting peptide of E6AP. (PubMed id 11170455)^{1, 3, 4} Be X.... Baleja J.D. (2001)
Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53. (PubMed id 8380895)^{1, 3, 4} Huibregtse J.M.... Howley P.M. (1993)
Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade. (PubMed id 10558980)^{1, 3, 4} Huang L.... Pavletich N.P. (1999)
UBE3A/E6-AP mutations cause Angelman syndrome. (PubMed id 8988171)^{1, 3, 4} Kishino T.... Wagstaff J. (1997)
E6AP ubiquitin ligase mediates ubiquitylation and degradation of hepatitis C virus core protein. (PubMed id 17108031)^{3, 4} Shirakura M.... Shoji I. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7337	HGNC: 12496	AceView: UBE3A	Ensembl:ENSG00000114062	euGenes: HUgn7337
ECgene: UBE3A	H-InvDB: UBE3A

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for UBE3A	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=UBE3A

Licensable Technologies for UBE3A
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for UBE3A:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for UBE3A-related products

	Millipore Custom Antibody & Bulk Services
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UBE3A Gene

protein-coding GIFtS: 72

Aliases &
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for UBE3A

Summaries
for UBE3A

Genomic Location
for UBE3A

Proteins
for UBE3A

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Families
for UBE3A

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for UBE3A

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

UBE3A Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor UBE3A

Summariesfor UBE3A

Genomic Locationfor UBE3A

Proteinsfor UBE3A

Protein Domains/Familiesfor UBE3A

Gene Functionfor UBE3A

Pathways & Interactionsfor UBE3A

Drugs & Compoundsfor UBE3A

Transcriptsfor UBE3A

Expression for UBE3A

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SNPs/Variantsfor UBE3A

Disorders & Mutationsfor UBE3A

Medical Newsfor UBE3A

Publicationsfor UBE3A

Search for UBE3A

Genome Databases showing UBE3A

Other Databases showing UBE3A

Specialized Databases showing UBE3A

Licensable Technologiesfor UBE3A

Servicesfor UBE3A

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for UBE3A

Summaries
for UBE3A

Genomic Location
for UBE3A

Proteins
for UBE3A

Protein Domains/
Families
for UBE3A

Gene Function
for UBE3A

Pathways & Interactions
for UBE3A

Drugs & Compounds
for UBE3A

Transcripts
for UBE3A

Expression
for UBE3A

Orthologs
for UBE3A

Paralogs
for UBE3A

SNPs/Variants
for UBE3A

Disorders & Mutations
for UBE3A

Medical News
for UBE3A

Publications
for UBE3A

Licensable Technologies
for UBE3A

Services
for UBE3A