Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7337
Gene name	Ubiquitin protein ligase E3A
Gene symbol	UBE3A
Synonyms (NCBI Gene)	ANCRASE6-APEPVE6APHPVE6APIX1
Chromosome	15
Chromosome location	15q11.2
Summary	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 Angelm

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019860	hsa-miR-375	Microarray	20215506
MIRT030496	hsa-miR-24-3p	Microarray	19748357
MIRT019860	hsa-miR-375	PAR-CLIP	21572407
MIRT546137	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546136	hsa-miR-541-5p	PAR-CLIP	21572407
MIRT192300	hsa-miR-944	PAR-CLIP	21572407
MIRT546135	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT546133	hsa-miR-5692b	PAR-CLIP	21572407
MIRT546134	hsa-miR-5692c	PAR-CLIP	21572407
MIRT546132	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT546131	hsa-miR-1206	PAR-CLIP	21572407
MIRT546130	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT192294	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT192299	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT546128	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT546129	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT733700	hsa-miR-26a-5p	ELISAImmunoprecipitaion (IP)Luciferase reporter assayWestern blotting	33857357
MIRT734437	hsa-miR-302c-3p	Western blottingLuciferase reporter assayqRT-PCR	31949242
MIRT019860	hsa-miR-375	PAR-CLIP	21572407
MIRT546137	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546136	hsa-miR-541-5p	PAR-CLIP	21572407
MIRT192300	hsa-miR-944	PAR-CLIP	21572407
MIRT546135	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT546133	hsa-miR-5692b	PAR-CLIP	21572407
MIRT546134	hsa-miR-5692c	PAR-CLIP	21572407
MIRT546132	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT546131	hsa-miR-1206	PAR-CLIP	21572407
MIRT546130	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT192294	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT192299	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT546128	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT546129	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT1469322	hsa-miR-1229	CLIP-seq
MIRT1469323	hsa-miR-124	CLIP-seq
MIRT1469324	hsa-miR-1283	CLIP-seq
MIRT1469325	hsa-miR-2052	CLIP-seq
MIRT1469326	hsa-miR-3065-3p	CLIP-seq
MIRT1469327	hsa-miR-3074-3p	CLIP-seq
MIRT1469328	hsa-miR-3074-5p	CLIP-seq
MIRT1469329	hsa-miR-3143	CLIP-seq
MIRT1469330	hsa-miR-3618	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT1469333	hsa-miR-4282	CLIP-seq
MIRT1469334	hsa-miR-4287	CLIP-seq
MIRT1469335	hsa-miR-4307	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT1469337	hsa-miR-4452	CLIP-seq
MIRT1469338	hsa-miR-4453	CLIP-seq
MIRT1469339	hsa-miR-4469	CLIP-seq
MIRT1469340	hsa-miR-450b-5p	CLIP-seq
MIRT1469341	hsa-miR-4538	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT1469343	hsa-miR-4685-3p	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT1469345	hsa-miR-4713-5p	CLIP-seq
MIRT1469346	hsa-miR-4722-3p	CLIP-seq
MIRT1469347	hsa-miR-4724-5p	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT1469349	hsa-miR-506	CLIP-seq
MIRT1469350	hsa-miR-507	CLIP-seq
MIRT1469351	hsa-miR-513a-3p	CLIP-seq
MIRT1469352	hsa-miR-513c	CLIP-seq
MIRT1469353	hsa-miR-514b-5p	CLIP-seq
MIRT1469354	hsa-miR-522	CLIP-seq
MIRT1469355	hsa-miR-548p	CLIP-seq
MIRT1469356	hsa-miR-557	CLIP-seq
MIRT1469357	hsa-miR-601	CLIP-seq
MIRT1469358	hsa-miR-607	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT1469360	hsa-miR-1244	CLIP-seq
MIRT1469361	hsa-miR-1302	CLIP-seq
MIRT1469362	hsa-miR-197	CLIP-seq
MIRT1469363	hsa-miR-3117-5p	CLIP-seq
MIRT1469364	hsa-miR-3189-3p	CLIP-seq
MIRT1469365	hsa-miR-3689a-3p	CLIP-seq
MIRT1469366	hsa-miR-3689c	CLIP-seq
MIRT1469333	hsa-miR-4282	CLIP-seq
MIRT1469367	hsa-miR-4298	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT1469368	hsa-miR-4704-3p	CLIP-seq
MIRT1469369	hsa-miR-4705	CLIP-seq
MIRT1469347	hsa-miR-4724-5p	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT1469370	hsa-miR-502-5p	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT1469371	hsa-miR-302f	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT1469372	hsa-miR-4711-5p	CLIP-seq
MIRT1469373	hsa-miR-4773	CLIP-seq
MIRT1469351	hsa-miR-513a-3p	CLIP-seq
MIRT1469374	hsa-miR-579	CLIP-seq
MIRT1555327	hsa-miR-3622b-5p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT2141012	hsa-miR-1208	CLIP-seq
MIRT2141013	hsa-miR-1275	CLIP-seq
MIRT2141014	hsa-miR-1297	CLIP-seq
MIRT2141015	hsa-miR-1305	CLIP-seq
MIRT2141016	hsa-miR-1321	CLIP-seq
MIRT2141017	hsa-miR-186	CLIP-seq
MIRT2141018	hsa-miR-204	CLIP-seq
MIRT2141019	hsa-miR-211	CLIP-seq
MIRT2141020	hsa-miR-23a	CLIP-seq
MIRT2141021	hsa-miR-23b	CLIP-seq
MIRT2141022	hsa-miR-23c	CLIP-seq
MIRT2141023	hsa-miR-26a	CLIP-seq
MIRT2141024	hsa-miR-26b	CLIP-seq
MIRT2141025	hsa-miR-300	CLIP-seq
MIRT1469371	hsa-miR-302f	CLIP-seq
MIRT2141026	hsa-miR-3133	CLIP-seq
MIRT2141027	hsa-miR-3140-3p	CLIP-seq
MIRT2141028	hsa-miR-3154	CLIP-seq
MIRT2141029	hsa-miR-3612	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT2141030	hsa-miR-374a	CLIP-seq
MIRT2141031	hsa-miR-374b	CLIP-seq
MIRT2141032	hsa-miR-381	CLIP-seq
MIRT2141033	hsa-miR-4260	CLIP-seq
MIRT1469334	hsa-miR-4287	CLIP-seq
MIRT2141034	hsa-miR-4465	CLIP-seq
MIRT1469339	hsa-miR-4469	CLIP-seq
MIRT2141035	hsa-miR-4488	CLIP-seq
MIRT2141036	hsa-miR-4489	CLIP-seq
MIRT2141037	hsa-miR-452	CLIP-seq
MIRT2141038	hsa-miR-4528	CLIP-seq
MIRT2141039	hsa-miR-4665-5p	CLIP-seq
MIRT2141040	hsa-miR-4676-3p	CLIP-seq
MIRT1469343	hsa-miR-4685-3p	CLIP-seq
MIRT2141041	hsa-miR-4697-5p	CLIP-seq
MIRT1469372	hsa-miR-4711-5p	CLIP-seq
MIRT1469345	hsa-miR-4713-5p	CLIP-seq
MIRT2141042	hsa-miR-4717-3p	CLIP-seq
MIRT2141043	hsa-miR-4739	CLIP-seq
MIRT2141044	hsa-miR-4756-5p	CLIP-seq
MIRT2141045	hsa-miR-4761-5p	CLIP-seq
MIRT1469373	hsa-miR-4773	CLIP-seq
MIRT2141046	hsa-miR-493	CLIP-seq
MIRT2141047	hsa-miR-498	CLIP-seq
MIRT1469358	hsa-miR-607	CLIP-seq
MIRT2141048	hsa-miR-650	CLIP-seq
MIRT2141049	hsa-miR-9	CLIP-seq
MIRT2362072	hsa-miR-1183	CLIP-seq
MIRT2141012	hsa-miR-1208	CLIP-seq
MIRT1469323	hsa-miR-124	CLIP-seq
MIRT1469360	hsa-miR-1244	CLIP-seq
MIRT2362073	hsa-miR-1267	CLIP-seq
MIRT2141014	hsa-miR-1297	CLIP-seq
MIRT2362074	hsa-miR-1298	CLIP-seq
MIRT2141015	hsa-miR-1305	CLIP-seq
MIRT2362075	hsa-miR-132	CLIP-seq
MIRT2141016	hsa-miR-1321	CLIP-seq
MIRT2362076	hsa-miR-139-5p	CLIP-seq
MIRT2362077	hsa-miR-141	CLIP-seq
MIRT2141017	hsa-miR-186	CLIP-seq
MIRT2362078	hsa-miR-200a	CLIP-seq
MIRT2141018	hsa-miR-204	CLIP-seq
MIRT2141019	hsa-miR-211	CLIP-seq
MIRT2362079	hsa-miR-212	CLIP-seq
MIRT2141023	hsa-miR-26a	CLIP-seq
MIRT2141024	hsa-miR-26b	CLIP-seq
MIRT2141025	hsa-miR-300	CLIP-seq
MIRT1469326	hsa-miR-3065-3p	CLIP-seq
MIRT1469328	hsa-miR-3074-5p	CLIP-seq
MIRT2141026	hsa-miR-3133	CLIP-seq
MIRT2141028	hsa-miR-3154	CLIP-seq
MIRT2362080	hsa-miR-3168	CLIP-seq
MIRT2362081	hsa-miR-3180-5p	CLIP-seq
MIRT1469364	hsa-miR-3189-3p	CLIP-seq
MIRT2362082	hsa-miR-320a	CLIP-seq
MIRT2362083	hsa-miR-320b	CLIP-seq
MIRT2362084	hsa-miR-320c	CLIP-seq
MIRT2362085	hsa-miR-320d	CLIP-seq
MIRT2141029	hsa-miR-3612	CLIP-seq
MIRT1469365	hsa-miR-3689a-3p	CLIP-seq
MIRT1469366	hsa-miR-3689c	CLIP-seq
MIRT2141032	hsa-miR-381	CLIP-seq
MIRT2362086	hsa-miR-4255	CLIP-seq
MIRT2362087	hsa-miR-4429	CLIP-seq
MIRT2141034	hsa-miR-4465	CLIP-seq
MIRT2141037	hsa-miR-452	CLIP-seq
MIRT2362088	hsa-miR-4652-3p	CLIP-seq
MIRT2141040	hsa-miR-4676-3p	CLIP-seq
MIRT2362089	hsa-miR-4684-3p	CLIP-seq
MIRT2362090	hsa-miR-4690-3p	CLIP-seq
MIRT2362091	hsa-miR-4693-5p	CLIP-seq
MIRT1469368	hsa-miR-4704-3p	CLIP-seq
MIRT1469369	hsa-miR-4705	CLIP-seq
MIRT1469346	hsa-miR-4722-3p	CLIP-seq
MIRT2362092	hsa-miR-4731-3p	CLIP-seq
MIRT2141043	hsa-miR-4739	CLIP-seq
MIRT2141044	hsa-miR-4756-5p	CLIP-seq
MIRT2141045	hsa-miR-4761-5p	CLIP-seq
MIRT2362093	hsa-miR-4801	CLIP-seq
MIRT2362094	hsa-miR-488	CLIP-seq
MIRT2141046	hsa-miR-493	CLIP-seq
MIRT2362095	hsa-miR-495	CLIP-seq
MIRT2141047	hsa-miR-498	CLIP-seq
MIRT1469370	hsa-miR-502-5p	CLIP-seq
MIRT1469349	hsa-miR-506	CLIP-seq
MIRT1469355	hsa-miR-548p	CLIP-seq
MIRT1469374	hsa-miR-579	CLIP-seq
MIRT1469358	hsa-miR-607	CLIP-seq
MIRT2362096	hsa-miR-633	CLIP-seq
MIRT2141048	hsa-miR-650	CLIP-seq
MIRT2362097	hsa-miR-664	CLIP-seq
MIRT2362098	hsa-miR-802	CLIP-seq
MIRT2362099	hsa-miR-935	CLIP-seq
MIRT2362077	hsa-miR-141	CLIP-seq
MIRT2362078	hsa-miR-200a	CLIP-seq
MIRT2396595	hsa-miR-3163	CLIP-seq
MIRT2362089	hsa-miR-4684-3p	CLIP-seq
MIRT2396596	hsa-miR-4781-3p	CLIP-seq
MIRT2655785	hsa-miR-1179	CLIP-seq
MIRT2655786	hsa-miR-218	CLIP-seq
MIRT2655787	hsa-miR-219-1-3p	CLIP-seq
MIRT2655788	hsa-miR-3064-3p	CLIP-seq
MIRT2655789	hsa-miR-3120-5p	CLIP-seq
MIRT2655790	hsa-miR-3616-3p	CLIP-seq
MIRT1555327	hsa-miR-3622b-5p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT2655791	hsa-miR-4275	CLIP-seq
MIRT2655792	hsa-miR-4277	CLIP-seq
MIRT2655793	hsa-miR-4303	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT2655794	hsa-miR-4318	CLIP-seq
MIRT2655795	hsa-miR-4328	CLIP-seq
MIRT2655796	hsa-miR-4446-3p	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT2655797	hsa-miR-4649-3p	CLIP-seq
MIRT2362091	hsa-miR-4693-5p	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT2655798	hsa-miR-4721	CLIP-seq
MIRT2655799	hsa-miR-4775	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT2362095	hsa-miR-495	CLIP-seq
MIRT2655800	hsa-miR-543	CLIP-seq
MIRT2655801	hsa-miR-561	CLIP-seq
MIRT2655802	hsa-miR-571	CLIP-seq
MIRT2655803	hsa-miR-584	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT2655804	hsa-miR-892a	CLIP-seq
MIRT2655786	hsa-miR-218	CLIP-seq
MIRT2655787	hsa-miR-219-1-3p	CLIP-seq
MIRT2655790	hsa-miR-3616-3p	CLIP-seq
MIRT1555327	hsa-miR-3622b-5p	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT2655793	hsa-miR-4303	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT2655794	hsa-miR-4318	CLIP-seq
MIRT2655796	hsa-miR-4446-3p	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT2655797	hsa-miR-4649-3p	CLIP-seq
MIRT2362091	hsa-miR-4693-5p	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT2655798	hsa-miR-4721	CLIP-seq
MIRT2655799	hsa-miR-4775	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT2655801	hsa-miR-561	CLIP-seq
MIRT2655802	hsa-miR-571	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT2655804	hsa-miR-892a	CLIP-seq

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000502	Component	Proteasome complex	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	12890688, 24105792
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	7624774, 9467941, 12207887, 12620801, 15890204, 16493710, 16772533, 17023019, 17166906, 21653829, 22483108, 22810586, 22898364, 23393263, 24722188, 24728990, 25416956, 25910212, 26789255, 29426014, 31515488, 31988313, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0006508	Process	Proteolysis	TAS	8221889
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	8221889
GO:0007420	Process	Brain development	TAS	8988171
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	IEA
GO:0030521	Process	Androgen receptor signaling pathway	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	17108031
GO:0031669	Process	Cellular response to nutrient levels	IDA	22980980, 28935770, 31001086
GO:0032570	Process	Response to progesterone	IDA	16772533
GO:0035037	Process	Sperm entry	IEA
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	IMP	24728990
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	30020076
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048511	Process	Rhythmic process	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050847	Process	Progesterone receptor signaling pathway	IDA	16772533
GO:0051865	Process	Protein autoubiquitination	IDA	24105792
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060736	Process	Prostate gland growth	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	30020076
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	7708685
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	12890688
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0150032	Process	Positive regulation of protein localization to lysosome	IDA	28935770, 31001086
GO:1904262	Process	Negative regulation of TORC1 signaling	IEA
GO:1904262	Process	Negative regulation of TORC1 signaling	ISS	30020076
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	22980980, 28935770, 31001086
GO:1905528	Process	Positive regulation of Golgi lumen acidification	IEA
GO:2000058	Process	Regulation of ubiquitin-dependent protein catabolic process	IBA
GO:2000058	Process	Regulation of ubiquitin-dependent protein catabolic process	IMP	24728990

MIM	HGNC	e!Ensembl
601623	12496	ENSG00000114062

Q05086

Protein name

Ubiquitin-protein ligase E3A (EC 2.3.2.26) (E6AP ubiquitin-protein ligase) (HECT-type ubiquitin transferase E3A) (Human papillomavirus E6-associated protein) (Oncogenic protein-associated protein E6-AP) (Renal carcinoma antigen NY-REN-54)

Protein function

E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates (PubMed:10373495, PubMed:16772533, PubMed:19204938, PubMed:19233847, PubMed:19325566, PubMe

PDB

1C4Z , 1D5F , 1EQX , 2KR1 , 4GIZ , 4XR8 , 6SJV , 6SLM , 6TGK , 6U19 , 7Q41 , 7QPB , 8ENP , 8EPT , 8GCR , 8JRN , 8JRO , 8JRP , 8JRQ , 8JRR , 8R1F , 8R1G , 9CHT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16558	AZUL	29 → 83	Amino-terminal Zinc-binding domain of ubiquitin ligase E3A	Domain
PF00632	HECT	576 → 875	HECT-domain (ubiquitin-transferase)	Domain

Sequence

MEKLHQCYWKSGEPQSDDIEASRMKRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTF
LRMDNNAAAIKALELYKINAKLCDPHPSKKGASSAYLENSKGAPNNSCSEIKMNKKGARI
DFKDVTYLTEEKVYEILELCREREDYSPLIRVIGRVFSSAEALVQSFRKVKQHTKEELKS
LQAKDEDKDEDEKEKAACSAAAMEEDSEASSSRIGDSSQGDNNLQKLGPDDVSVDIDAIR
RVYTRLLSNEKIETAFLNALVYLSPNVECDLTYHNVYSRDPNYLNLFIIVMENRNLHSPE
YLEMALPLFCKAMSKLPLAAQGKLIRLWSKYNADQIRRMMETFQQLITYKVISNEFNSRN
LVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNK
KGPRVDPLETELGVKTLDCRKPLIPFEEFINEPLNEVLEMDKDYTFFKVETENKFSFMTC
PFILNAVTKNLGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLRLKVRRDHIIDDALVRL
EMIAMENPADLKKQLYVEFEGEQGVDEGGVSKEFFQLVVEEIFNPDIGMFTYDESTKLFW
FNPSSFETEGQFTLIGIVLGLAIYNNCILDVHFPMVVYRKLMGKKGTFRDLGDSHPVLYQ
SLKDLLEYEGNVEDDMMITFQISQTDLFGNPMMYDLKENGDKIPITNENRKEFVNLYSDY
ILNKSVEKQFKAFRRGFHMVTNESPLKYLFRPEEIELLICGSRNLDFQALEETTEYDGGY
TRDSVLIREFWEIVHSFTDEQKRLFLQFTTGTDRAPVGGLGKLKMIIAKNGPDTERLPTS
HTCFNVLLLPEYSSKEKLKERLLKAITYAKGFGML

Sequence length

875

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis		Antigen processing: Ubiquitination & Proteasome degradation

715

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Angelman syndrome	Pathogenic; Likely pathogenic	rs2080191422, rs398124440, rs2152694181, rs2152515149, rs2152848080, rs2152507134, rs2077884610, rs1445563777, rs2152684235, rs2152693602, rs2152683847, rs587781225, rs2152515439, rs587780565, rs587780566 View all (175 more)	RCV001334474 RCV002513849 RCV001726508 RCV001379188 RCV001377695 RCV001386580 RCV001788548 RCV001706787 RCV001785106 RCV001990284 RCV001994246 RCV001933306 RCV001931349 RCV000144538 RCV000144539 RCV000144540 RCV000144541 RCV000144542 RCV000144543 RCV000144544 RCV000144545 RCV000144546 RCV000144547 RCV000144548 RCV000144549 RCV000144550 RCV000144551 RCV000144552 RCV000144553 RCV000144554 RCV000144555 RCV000144556 RCV000144557 RCV000144558 RCV000144559 RCV001926484 RCV002002385 RCV001864353 RCV000144264 RCV000144265 RCV000144266 RCV000144267 RCV000144268 RCV000144269 RCV000144270 RCV000144271 RCV000144272 RCV000144273 RCV000144274 RCV000144275 RCV000144276 RCV000144277 RCV000144278 RCV000144279 RCV000144280 RCV000144281 RCV000144282 RCV000144283 RCV000144284 RCV000144285 RCV000144286 RCV000144287 RCV000144288 RCV000144289 RCV000144290 RCV000144291 RCV000144292 RCV000144293 RCV000144294 RCV000144295 RCV000144296 RCV000144297 RCV000144298 RCV000144299 RCV000144300 RCV000144301 RCV000144302 RCV000144303 RCV000144304 RCV000144305 RCV000144306 RCV000144307 RCV000144308 RCV000144309 RCV000144310 RCV000144311 RCV000144312 RCV000144313 RCV000144314 RCV000144315 RCV000144316 RCV000144317 RCV000144318 RCV000144319 RCV000144320 RCV000144321 RCV000147882 RCV002226830 RCV002246802 RCV000147883 RCV000147881 RCV000147875 RCV000147874 RCV000147873 RCV000147872 RCV000147870 RCV000147868 RCV000147867 RCV000147866 RCV000147865 RCV000147864 RCV000147860 RCV000147859 RCV000147892 RCV000147891 RCV000147889 RCV000147888 RCV000147887 RCV000147886 RCV002280268 RCV002287308 RCV002466383 RCV000701063 RCV000633514 RCV002851452 RCV000194248 RCV000193223 RCV000194169 RCV000195178 RCV000193045 RCV000194009 RCV000194951 RCV000196394 RCV003005988 RCV000202543 RCV000202457 RCV000008430 RCV000008431 RCV000008432 RCV000008433 RCV000008436 RCV002810041 RCV003133066 RCV003152877 RCV003223601 RCV003224755 RCV004546472 RCV000509135 RCV003333363 RCV003334463 RCV003340751 RCV003445292 RCV003510753 RCV003621118 RCV003621059 RCV003621356 RCV003621355 RCV003621454 RCV004560509 RCV000416334 RCV000470807 RCV001507065 RCV000989273 RCV000690582 RCV001044278 RCV002248757 RCV000543322 RCV005859348 RCV002280132 RCV001507035 RCV000677659 RCV000688988 RCV000699666 RCV001507036 RCV000810663 RCV000824274 RCV000799398 RCV000853580 RCV000989270 RCV000989271 RCV000989272 RCV000989274 RCV000989275 RCV001004699 RCV001048607 RCV001050018 RCV001071345 RCV001221493 RCV001203004 RCV001235083 RCV001260931 RCV001264747 RCV001265637 RCV001290256
Developmental delay	Likely pathogenic	rs1057518777	RCV000414808
Epileptic encephalopathy	Pathogenic	rs863225068	RCV001799632
Intellectual disability	Pathogenic; Likely pathogenic	rs587784527, rs1057518777, rs1595808957, rs997044541, rs2074492359	RCV001260843 RCV000414808 RCV000850199 RCV001260805 RCV001260778
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs587781239	RCV003389042
See cases	Likely pathogenic	rs587783097, rs2152822637	RCV002274930 RCV002253003
UBE3A-related disorder	Pathogenic; Likely pathogenic	rs587780570, rs587781200, rs864309508, rs772110423, rs2552181706, rs2552181695, rs1064793307	RCV004730877 RCV004730881 RCV003401095 RCV003406229 RCV003406233 RCV003408426 RCV003900014

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1555403046, rs1555403067	-
Autism	Uncertain significance	rs864309507	RCV000202490
Congenital myopathy	Benign	rs141984760	RCV005621884
Developmental disorder	Uncertain significance	rs201004098	RCV001843751
Familial prostate cancer	Likely benign	rs749731066	RCV005895532
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs759994828	RCV005912215

Show/Hide Text Mining Associations (60)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	10424818
Angelman Syndrome	Associate	10424818, 10647895, 11258627, 11748306, 14966115, 16162432, 17036311, 17965627, 20729760, 21204213, 21587322, 21633703, 22426236, 22645313, 23256887 View all (37 more)
Angelman Syndrome	Inhibit	15607424, 32152487, 32916124, 35218942, 36012404
Ataxia	Associate	10424818
Autism Spectrum Disorder	Associate	22645313, 26216987, 30257870, 31312421, 32722525, 33308194
Autistic Disorder	Associate	19404257, 19557195, 28559284, 28835500, 28925810, 33116122, 33308194, 36282706
Autosomal Recessive Primary Microcephaly	Associate	21633703
Bipolar Disorder	Associate	32871949
Body Dysmorphic Disorders	Associate	26993267
Breast Neoplasms	Associate	31329371
Buschke Lowenstein Tumor	Inhibit	37379354
Carcinogenesis	Associate	14710229, 30361475
Carcinoma Non Small Cell Lung	Associate	35531878
Carcinoma Renal Cell	Associate	35368029, 36367018
Cardiomegaly	Inhibit	31681945
Cardiomyopathy Hypertrophic	Associate	31681945
Chemical and Drug Induced Liver Injury	Inhibit	31949242
Chromosomal Instability	Associate	36989302
Chromosome 15q trisomy	Associate	29423132
Chromosome Disorders	Associate	21633703, 33116122
Congenital Abnormalities	Associate	32152487
Developmental Disabilities	Associate	17036311, 26216987, 26993267, 30737286, 31088393, 35045253, 35225435
Drug Resistant Epilepsy	Associate	16162432
Epilepsy	Associate	30977854, 36011358
Frontotemporal Dementia	Associate	28251352
Genetic Diseases Inborn	Associate	10647895
Head and Neck Neoplasms	Associate	10424818
Heredodegenerative Disorders Nervous System	Associate	37878632
Hypersensitivity Delayed	Associate	28251352
Intellectual Disability	Associate	24058414, 31088393, 35225435, 9321755, 9891052
Kidney Neoplasms	Associate	35368029
Language Disorders	Associate	33116122
Leukemia Myeloid	Associate	23598402
Leukemia Myeloid Acute	Associate	23598402
Leukoencephalopathies	Associate	21827860
Liver Cirrhosis	Associate	31949242
Memory Disorders	Associate	35531878
Microcephaly	Associate	21633703
Mosaic variegated aneuploidy syndrome	Associate	21633703
Myoclonus	Associate	10424818
Neoplasm Metastasis	Associate	14710229
Neoplasms	Associate	19509549, 24708873, 25231954, 28559284, 29931810, 32546626, 32855237, 32871949, 35916535, 36326272
Neoplasms	Inhibit	28477016
Neurologic Manifestations	Associate	30470726, 9891052
Obesity	Associate	21204213
Prader Willi Syndrome	Associate	12920063, 20876107, 24363065, 25246219, 28925810, 31638013, 33116122
Precancerous Conditions	Associate	38048896
Prostatic Neoplasms	Inhibit	25231954, 38423246
Prostatic Neoplasms	Associate	26261538, 28477016
Prostatitis	Associate	25231954, 28477016
Rotator Cuff Injuries	Stimulate	18941855
Seizures	Associate	10424818, 17036311, 9891052
Sexual Dysfunctions Psychological	Associate	28925810
Speech Disorders	Associate	10424818, 9891052
Status Epilepticus	Associate	16162432, 34872019
Syndrome	Associate	31312421, 36898382
Thinness	Associate	21204213
Uniparental Disomy	Associate	11489053, 31173236
Uniparental Disomy	Inhibit	17036311
Uterine Cervical Neoplasms	Associate	10864652, 11158620, 15994823, 26161728, 26216987, 26224081, 30361475

UBE3A (ubiquitin protein ligase E3A)