UBE3A (ubiquitin protein ligase E3A)

Identity

Other names	ANCR
	AS
	E6-AP
	EPVE6AP
	FLJ26981
	HPVE6A
HGNC	UBE3A
Location	15q11-q13
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

External links

	Nomenclature
HGNC	UBE3A   12496
Entrez_Gene	UBE3A  7337  ubiquitin protein ligase E3A
	Cards
GeneCards	UBE3A
Ensembl	UBE3A [Search_View]   ENSG00000114062 [Gene_View]
Genatlas	UBE3A
GeneLynx	UBE3A
eGenome	UBE3A
euGene	7337
	Genomic and cartography
GoldenPath	UBE3A  -     chr15:23133489-23204888 -  15q11.2   [Description]    (hg18-March_2006)
Ensembl	UBE3A - 15q11.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	UBE3A
	Gene and transcription
Genbank	AB194232 [ ENTREZ ]
Genbank	AB194232 [ ENTREZ ]
Genbank	AF002224 [ ENTREZ ]
Genbank	AF002225 [ ENTREZ ]
Genbank	AF273050 [ ENTREZ ]
RefSeq	NM_000462 [ SRS ]    NM_000462 [ ENTREZ ]
RefSeq	NM_130838 [ SRS ]    NM_130838 [ ENTREZ ]
RefSeq	NM_130839 [ SRS ]    NM_130839 [ ENTREZ ]
RefSeq	AC_000058 [ SRS ]    AC_000058 [ ENTREZ ]
RefSeq	AC_000147 [ SRS ]    AC_000147 [ ENTREZ ]
RefSeq	NC_000015 [ SRS ]    NC_000015 [ ENTREZ ]
RefSeq	NG_002690 [ SRS ]    NG_002690 [ ENTREZ ]
RefSeq	NT_026446 [ SRS ]    NT_026446 [ ENTREZ ]
RefSeq	NW_001838194 [ SRS ]    NW_001838194 [ ENTREZ ]
RefSeq	NW_925783 [ SRS ]    NW_925783 [ ENTREZ ]
AceView	UBE3A AceView - NCBI
Unigene	Hs.654383 [ SRS ]    Hs.654383 [ NCBI ]     HS654383 [ spliceNest ]
Fast-db	424 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q05086 [ SRS]    Q05086 [ EXPASY ]     Q05086 [ INTERPRO ]     Q05086 [ UNIPROT ]
Prosite	PS50237 HECT [ SRS ]    PS50237 HECT [ Expasy ]
Interpro	IPR000569 HECT [ SRS ]    IPR000569 HECT [ EBI ]
Interpro	IPR017134 Ubiquitin-protein_ligase_E6-AP [ SRS ]    IPR017134 Ubiquitin-protein_ligase_E6-AP [ EBI ]
CluSTr	Q05086
Pfam	PF00632 HECT [ SRS ]    PF00632 HECT [ Sanger ]    pfam00632 [ NCBI-CDD ]
Smart	SM00119 HECTc [EMBL]
Blocks	Q05086
PDB	1C4Z [ SRS ]    1C4Z [ PdbSum ],   1C4Z [ IMB ]   1C4Z [ RSDB ]
PDB	1D5F [ SRS ]    1D5F [ PdbSum ],   1D5F [ IMB ]   1D5F [ RSDB ]
PDB	1EQX [ SRS ]    1EQX [ PdbSum ],   1EQX [ IMB ]   1EQX [ RSDB ]
HPRD	03375
	Protein Interaction databases
DIP	Q05086
IntAct	Q05086
	Polymorphism : SNP, mutations, diseases
OMIM	105830;601623    [ map ]
GENECLINICS	105830;601623
SNP	UBE3A [dbSNP-NCBI]
SNP	NM_000462 [SNP-NCI]
SNP	NM_130838 [SNP-NCI]
SNP	NM_130839 [SNP-NCI]
SNP	UBE3A [GeneSNPs - Utah]  UBE3A] [HGBASE - SRS]
HAPMAP	UBE3A [HAPMAP]
COSMIC	UBE3A [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	UBE3A
	General knowledge
Family Browser	UBE3A [UCSC Family Browser]
SOURCE	NM_000462
SOURCE	NM_130838
SOURCE	NM_130839
SMD	Hs.654383
SAGE	Hs.654383
Enzyme	6.3.2.- [ Enzyme-Expasy ]   6.3.2.- [ Enzyme-SRS ]   6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   6.3.2.- [ WIT ]
GO	ubiquitin-protein ligase activity [Amigo]  ubiquitin-protein ligase activity
GO	protein binding [Amigo]  protein binding
GO	intracellular [Amigo]  intracellular
GO	nucleus [Amigo]  nucleus
GO	cytosol [Amigo]  cytosol
GO	protein modification process [Amigo]  protein modification process
GO	proteolysis [Amigo]  proteolysis
GO	ubiquitin-dependent protein catabolic process [Amigo]  ubiquitin-dependent protein catabolic process
GO	brain development [Amigo]  brain development
GO	ligase activity [Amigo]  ligase activity
GO	protein complex [Amigo]  protein complex
GO	interspecies interaction between organisms [Amigo]  interspecies interaction between organisms
KEGG	Tryptophan metabolism
PubGene	UBE3A
TreeFam	UBE3A
CTD	7337 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	UBE3A Related clones (RZPD - Berlin)
	PubMed
PubMed	62 Pubmed reference(s) in LocusLink

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 20:37:19 2008