• Gene id: 7337

Gene Summary

• Gene Symbol: UBE3A   Gene   UCSC   Ensembl
• Aliases: ANCR, AS, E6-AP, EPVE6AP, HPVE6A
• Gene name: ubiquitin protein ligase E3A
• Alternate names: ubiquitin-protein ligase E3A, CTCL tumor antigen se37-2, E6AP ubiquitin-protein ligase, HECT-type ubiquitin transferase E3A, human papilloma virus E6-associated protein, human papillomavirus E6-associated protein, oncogenic protein-associated protein E6-AP, rena,
• Gene location: 15q11.2 (25439380: 25333727)     Exons: 21     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 601623

Protein Summary

• Protein general information: Q05086  
  • 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)
  • Length: 875  
  • Mass: 100688
• Sequence:

  MEKLHQCYWKSGEPQSDDIEASRMKRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTFLRMDNNAAAIKALEL
  YKINAKLCDPHPSKKGASSAYLENSKGAPNNSCSEIKMNKKGARIDFKDVTYLTEEKVYEILELCREREDYSPLI
  RVIGRVFSSAEALVQSFRKVKQHTKEELKSLQAKDEDKDEDEKEKAACSAAAMEEDSEASSSRIGDSSQGDNNLQ
  KLGPDDVSVDIDAIRRVYTRLLSNEKIETAFLNALVYLSPNVECDLTYHNVYSRDPNYLNLFIIVMENRNLHSPE
  YLEMALPLFCKAMSKLPLAAQGKLIRLWSKYNADQIRRMMETFQQLITYKVISNEFNSRNLVNDDDAIVAASKCL
  KMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNKKGPRVDPLETELGVKTLDCRKPLIPFEEFI
  NEPLNEVLEMDKDYTFFKVETENKFSFMTCPFILNAVTKNLGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLRL
  KVRRDHIIDDALVRLEMIAMENPADLKKQLYVEFEGEQGVDEGGVSKEFFQLVVEEIFNPDIGMFTYDESTKLFW
  FNPSSFETEGQFTLIGIVLGLAIYNNCILDVHFPMVVYRKLMGKKGTFRDLGDSHPVLYQSLKDLLEYEGNVEDD
  MMITFQISQTDLFGNPMMYDLKENGDKIPITNENRKEFVNLYSDYILNKSVEKQFKAFRRGFHMVTNESPLKYLF
  RPEEIELLICGSRNLDFQALEETTEYDGGYTRDSVLIREFWEIVHSFTDEQKRLFLQFTTGTDRAPVGGLGKLKM
  IIAKNGPDTERLPTSHTCFNVLLLPEYSSKEKLKERLLKAITYAKGFGML

• Structural information:
  • Protein Domains: (776..87-)
    (/note="HECT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00104"-)
  • Interpro: IPR032353  IPR042556  IPR000569  IPR035983  IPR017134  
  • Prosite: PS50237
  • CDD: cd00078
  • PDB: 1C4Z 1D5F 1EQX 2KR1 4GIZ 4XR8 6SJV
  • PDBsum: 1C4Z 1D5F 1EQX 2KR1 4GIZ 4XR8 6SJV
  • DIP: 6002
  • STRING: ENSP00000232165
• Other Databases: GeneCards:  UBE3A  Malacards:  UBE3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0032570	response to progesterone	IDA	biological process
GO:0050847	progesterone receptor signaling pathway	IDA	biological process
GO:2000058	regulation of ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042752	regulation of circadian rhythm	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0000502	proteasome complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007420	brain development	TAS	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905528	positive regulation of Golgi lumen acidification	IEA	biological process
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:1905528	positive regulation of Golgi lumen acidification	IEA	biological process
GO:0060736	prostate gland growth	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0035037	sperm entry	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:1990416	cellular response to brain-derived neurotrophic factor stimulus	IEA	biological process
GO:0061002	negative regulation of dendritic spine morphogenesis	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0030521	androgen receptor signaling pathway	IEA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0001541	ovarian follicle development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa05203	Viral carcinogenesis
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Angelman syndrome	KEGG:H01732
Angelman syndrome	KEGG:H01732
Angelman syndrome	PMID:8988171
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray