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Protein

Ubiquitin-protein ligase E3A

Gene

UBE3A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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. Several substrates have been identified including the RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B. Catalyzes the high-risk human papilloma virus E6-mediated ubiquitination of p53/TP53, contributing to the neoplastic progression of cells infected by these viruses. Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins. Finally, UBE3A also promotes its own degradation in vivo. Plays an important role in the regulation of the circadian clock: involved in the ubiquitination of the core clock component ARNTL/BMAL1, leading to its proteasomal degradation (PubMed:24728990).7 Publications

Catalytic activityi

S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei843Glycyl thioester intermediate1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri44 – 83C4-type; atypical1 PublicationAdd BLAST40

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • transcription coactivator activity Source: Ensembl
  • ubiquitin protein ligase activity Source: CACAO
  • ubiquitin-protein transferase activity Source: UniProtKB

GO - Biological processi

  • androgen receptor signaling pathway Source: GO_Central
  • brain development Source: ProtInc
  • ovarian follicle development Source: Ensembl
  • positive regulation of phosphatidylinositol 3-kinase signaling Source: Ensembl
  • positive regulation of protein ubiquitination Source: CACAO
  • positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • prostate gland growth Source: Ensembl
  • protein autoubiquitination Source: FlyBase
  • protein K48-linked ubiquitination Source: UniProtKB
  • proteolysis Source: ProtInc
  • regulation of circadian rhythm Source: UniProtKB
  • regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: UniProtKB
  • sperm entry Source: Ensembl
  • ubiquitin-dependent protein catabolic process Source: ProtInc
  • viral process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Biological rhythms, Host-virus interaction, Ubl conjugation pathway

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000114062-MONOMER.
BRENDAi2.3.2.B9. 2681.
6.3.2.19. 2681.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
SIGNORiQ05086.
UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquitin-protein ligase E3A (EC:2.3.2.26)
Alternative name(s):
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
Gene namesi
Name:UBE3A
Synonyms:E6AP, EPVE6AP, HPVE6A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:12496. UBE3A.

Subcellular locationi

  • Nucleus By similarity
  • Cytoplasm By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus, Proteasome

Pathology & Biotechi

Involvement in diseasei

Angelman syndrome (AS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue.
See also OMIM:105830
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073196129T → K in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781241dbSNPEnsembl.1
Natural variantiVAR_073197140C → R Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782907dbSNPEnsembl.1
Natural variantiVAR_073198156V → G Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782915dbSNPEnsembl.1
Natural variantiVAR_073199235D → V in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587780581dbSNPEnsembl.1
Natural variantiVAR_073200260L → H in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587780582dbSNPEnsembl.1
Natural variantiVAR_073201260L → Q in AS; unknown pathological significance. 1 Publication1
Natural variantiVAR_073202286L → W in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587780583dbSNPEnsembl.1
Natural variantiVAR_073203293N → T Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782908dbSNPEnsembl.1
Natural variantiVAR_073204358S → T Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs141984760dbSNPEnsembl.1
Natural variantiVAR_073205458L → P in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781242dbSNPEnsembl.1
Natural variantiVAR_073206481P → L in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587780584dbSNPEnsembl.1
Natural variantiVAR_073207500R → P in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781243dbSNPEnsembl.1
Natural variantiVAR_073208501M → I Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782916dbSNPEnsembl.1
Natural variantiVAR_073209568G → R in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781233dbSNPEnsembl.1
Natural variantiVAR_073210589M → K in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781244dbSNPEnsembl.1
Natural variantiVAR_073211607E → Q in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781235dbSNPEnsembl.1
Natural variantiVAR_073212611Q → E Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782918dbSNPEnsembl.1
Natural variantiVAR_073213611Q → P Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782919dbSNPEnsembl.1
Natural variantiVAR_073214679T → I in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781236dbSNPEnsembl.1
Natural variantiVAR_073215696L → R Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782920dbSNPEnsembl.1
Natural variantiVAR_073216713F → C in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781237dbSNPEnsembl.1
Natural variantiVAR_073217785V → I Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782910dbSNPEnsembl.1
Natural variantiVAR_008144826I → II in AS. 1 Publication1
Natural variantiVAR_073218850P → L in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781239dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi750F → D: Disrupt trimer formation, 50-fold reduction in E3 ligase activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7337.
MalaCardsiUBE3A.
MIMi105830. phenotype.
OpenTargetsiENSG00000114062.
Orphaneti72. Angelman syndrome.
PharmGKBiPA37144.

Polymorphism and mutation databases

BioMutaiUBE3A.
DMDMi215274240.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001949801 – 875Ubiquitin-protein ligase E3AAdd BLAST875

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei218PhosphoserineCombined sources1
Modified residuei659Phosphotyrosine; by ABL11 Publication1

Post-translational modificationi

Phosphorylation at Tyr-659 by ABL1 impairs E3 ligase activity and protects p53/TP53 from degradation in (HPV)-infected cells.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ05086.
MaxQBiQ05086.
PaxDbiQ05086.
PeptideAtlasiQ05086.
PRIDEiQ05086.

PTM databases

iPTMnetiQ05086.
PhosphoSitePlusiQ05086.

Expressioni

Gene expression databases

BgeeiENSG00000114062.
ExpressionAtlasiQ05086. baseline and differential.
GenevisibleiQ05086. HS.

Organism-specific databases

HPAiCAB009723.
HPA039410.
HPA040380.

Interactioni

Subunit structurei

The active form is probably a homotrimer. Binds UBQLN1 and UBQLN2. Interacts with the 26S proteasome. Interacts with HCV core protein and targets it to degradation. 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/TP53 tumor-suppressor protein for ubiquitin-mediated proteolysis. Interacts with BPY2. Interacts with HIF1AN, MAPK6 AND NEURL4; interaction with MAPK6 may be mediated by NEURL4. Interacts with the proteasomal subunit PSMD4. Interacts with ARNTL/BMAL1.7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
B3KPL73EBI-10175863,EBI-10175860
AHSPQ9NZD43EBI-10175863,EBI-720250
ASAP3Q8TDY43EBI-10175863,EBI-2609717
ATG9AQ7Z3C63EBI-10175863,EBI-727146
E6P031263EBI-954357,EBI-1177242From a different organism.
E6P040195EBI-954357,EBI-1177232From a different organism.
E6P064622EBI-954357,EBI-7069993From a different organism.
E6P064636EBI-954357,EBI-1186926From a different organism.
E6P069312EBI-954357,EBI-7281937From a different organism.
E6Q77E163EBI-954357,EBI-7011359From a different organism.
KLHL38Q2WGJ63EBI-10175863,EBI-6426443
TATA1L4G73EBI-10175863,EBI-10223561
TP53P046373EBI-954357,EBI-366083
UBBQ5U5U63EBI-10175863,EBI-1642104

Protein-protein interaction databases

BioGridi113185. 174 interactors.
DIPiDIP-6002N.
IntActiQ05086. 57 interactors.
MINTiMINT-147444.
STRINGi9606.ENSP00000381045.

Structurei

Secondary structure

1875
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi27 – 41Combined sources15
Helixi65 – 78Combined sources14
Helixi403 – 410Combined sources8
Beta strandi525 – 527Combined sources3
Beta strandi529 – 531Combined sources3
Helixi532 – 545Combined sources14
Helixi548 – 552Combined sources5
Beta strandi557 – 559Combined sources3
Helixi569 – 582Combined sources14
Helixi585 – 587Combined sources3
Beta strandi589 – 592Combined sources4
Turni594 – 596Combined sources3
Beta strandi599 – 601Combined sources3
Helixi609 – 624Combined sources16
Helixi635 – 641Combined sources7
Helixi648 – 654Combined sources7
Helixi656 – 667Combined sources12
Helixi672 – 675Combined sources4
Beta strandi679 – 684Combined sources6
Turni687 – 689Combined sources3
Beta strandi692 – 697Combined sources6
Turni698 – 702Combined sources5
Turni707 – 709Combined sources3
Helixi710 – 722Combined sources13
Helixi727 – 741Combined sources15
Beta strandi742 – 744Combined sources3
Helixi753 – 760Combined sources8
Turni768 – 770Combined sources3
Beta strandi775 – 779Combined sources5
Helixi785 – 795Combined sources11
Helixi799 – 809Combined sources11
Beta strandi810 – 815Combined sources6
Helixi820 – 823Combined sources4
Beta strandi826 – 833Combined sources8
Beta strandi839 – 841Combined sources3
Helixi842 – 844Combined sources3
Beta strandi846 – 851Combined sources6
Helixi855 – 868Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1C4ZX-ray2.60A/B/C518-875[»]
1D5FX-ray2.80A/B/C518-875[»]
1EQXNMR-A401-418[»]
2KR1NMR-A24-87[»]
4GIZX-ray2.55A/B403-414[»]
ProteinModelPortaliQ05086.
SMRiQ05086.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ05086.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini776 – 875HECTPROSITE-ProRule annotationAdd BLAST100

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni401 – 418E6-bindingAdd BLAST18
Regioni418 – 517Interaction with HCV core proteinAdd BLAST100

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi394 – 399Asp/Glu-rich (acidic)6

Sequence similaritiesi

Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri44 – 83C4-type; atypical1 PublicationAdd BLAST40

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG0941. Eukaryota.
COG5021. LUCA.
GeneTreeiENSGT00860000133671.
HOVERGENiHBG059326.
InParanoidiQ05086.
KOiK10587.
OMAiNAFRKGF.
OrthoDBiEOG091G01LV.
PhylomeDBiQ05086.
TreeFamiTF315189.

Family and domain databases

CDDicd00078. HECTc. 1 hit.
InterProiIPR032353. AZUL.
IPR000569. HECT_dom.
IPR017134. UBE3A.
[Graphical view]
PfamiPF16558. AZUL. 1 hit.
PF00632. HECT. 1 hit.
[Graphical view]
PIRSFiPIRSF037201. Ubiquitin-protein_ligase_E6-AP. 1 hit.
SMARTiSM00119. HECTc. 1 hit.
[Graphical view]
SUPFAMiSSF56204. SSF56204. 1 hit.
PROSITEiPS50237. HECT. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform II (identifier: Q05086-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEKLHQCYWK SGEPQSDDIE ASRMKRAAAK HLIERYYHQL TEGCGNEACT
60 70 80 90 100
NEFCASCPTF LRMDNNAAAI KALELYKINA KLCDPHPSKK GASSAYLENS
110 120 130 140 150
KGAPNNSCSE IKMNKKGARI DFKDVTYLTE EKVYEILELC REREDYSPLI
160 170 180 190 200
RVIGRVFSSA EALVQSFRKV KQHTKEELKS LQAKDEDKDE DEKEKAACSA
210 220 230 240 250
AAMEEDSEAS SSRIGDSSQG DNNLQKLGPD DVSVDIDAIR RVYTRLLSNE
260 270 280 290 300
KIETAFLNAL VYLSPNVECD LTYHNVYSRD PNYLNLFIIV MENRNLHSPE
310 320 330 340 350
YLEMALPLFC KAMSKLPLAA QGKLIRLWSK YNADQIRRMM ETFQQLITYK
360 370 380 390 400
VISNEFNSRN LVNDDDAIVA ASKCLKMVYY ANVVGGEVDT NHNEEDDEEP
410 420 430 440 450
IPESSELTLQ ELLGEERRNK KGPRVDPLET ELGVKTLDCR KPLIPFEEFI
460 470 480 490 500
NEPLNEVLEM DKDYTFFKVE TENKFSFMTC PFILNAVTKN LGLYYDNRIR
510 520 530 540 550
MYSERRITVL YSLVQGQQLN PYLRLKVRRD HIIDDALVRL EMIAMENPAD
560 570 580 590 600
LKKQLYVEFE GEQGVDEGGV SKEFFQLVVE EIFNPDIGMF TYDESTKLFW
610 620 630 640 650
FNPSSFETEG QFTLIGIVLG LAIYNNCILD VHFPMVVYRK LMGKKGTFRD
660 670 680 690 700
LGDSHPVLYQ SLKDLLEYEG NVEDDMMITF QISQTDLFGN PMMYDLKENG
710 720 730 740 750
DKIPITNENR KEFVNLYSDY ILNKSVEKQF KAFRRGFHMV TNESPLKYLF
760 770 780 790 800
RPEEIELLIC GSRNLDFQAL EETTEYDGGY TRDSVLIREF WEIVHSFTDE
810 820 830 840 850
QKRLFLQFTT GTDRAPVGGL GKLKMIIAKN GPDTERLPTS HTCFNVLLLP
860 870
EYSSKEKLKE RLLKAITYAK GFGML
Length:875
Mass (Da):100,688
Last modified:November 25, 2008 - v4
Checksum:iF80F0502B3B3838A
GO
Isoform I (identifier: Q05086-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.

Show »
Length:852
Mass (Da):97,968
Checksum:i3C061DA8D216055A
GO
Isoform III (identifier: Q05086-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MEKLHQCYWK → MATACKR

Show »
Length:872
Mass (Da):100,102
Checksum:iAB4C9B22356C9556
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti359R → RNLVNEFNSR AA sequence (PubMed:8380895).Curated1
Sequence conflicti423P → L in AAA35542 (PubMed:8380895).Curated1
Sequence conflicti647 – 649TFR → LFV in AAA35542 (PubMed:8380895).Curated3
Sequence conflicti669E → V in AAA35542 (PubMed:8380895).Curated1
Sequence conflicti686D → N in AAA35542 (PubMed:8380895).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00785244C → Y Probable polymorphism. 1 Publication1
Natural variantiVAR_00814262R → H.1 PublicationCorresponds to variant rs587784511dbSNPEnsembl.1
Natural variantiVAR_073196129T → K in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781241dbSNPEnsembl.1
Natural variantiVAR_073197140C → R Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782907dbSNPEnsembl.1
Natural variantiVAR_073198156V → G Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782915dbSNPEnsembl.1
Natural variantiVAR_007853201A → T.2 PublicationsCorresponds to variant rs147145506dbSNPEnsembl.1
Natural variantiVAR_073199235D → V in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587780581dbSNPEnsembl.1
Natural variantiVAR_073200260L → H in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587780582dbSNPEnsembl.1
Natural variantiVAR_073201260L → Q in AS; unknown pathological significance. 1 Publication1
Natural variantiVAR_073202286L → W in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587780583dbSNPEnsembl.1
Natural variantiVAR_047516290V → G.3 PublicationsCorresponds to variant rs1059383dbSNPEnsembl.1
Natural variantiVAR_073203293N → T Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782908dbSNPEnsembl.1
Natural variantiVAR_073204358S → T Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs141984760dbSNPEnsembl.1
Natural variantiVAR_008143372S → P.1 Publication1
Natural variantiVAR_073205458L → P in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781242dbSNPEnsembl.1
Natural variantiVAR_073206481P → L in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587780584dbSNPEnsembl.1
Natural variantiVAR_073207500R → P in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781243dbSNPEnsembl.1
Natural variantiVAR_073208501M → I Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782916dbSNPEnsembl.1
Natural variantiVAR_073209568G → R in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781233dbSNPEnsembl.1
Natural variantiVAR_073210589M → K in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781244dbSNPEnsembl.1
Natural variantiVAR_073211607E → Q in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781235dbSNPEnsembl.1
Natural variantiVAR_073212611Q → E Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782918dbSNPEnsembl.1
Natural variantiVAR_073213611Q → P Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782919dbSNPEnsembl.1
Natural variantiVAR_073214679T → I in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781236dbSNPEnsembl.1
Natural variantiVAR_073215696L → R Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782920dbSNPEnsembl.1
Natural variantiVAR_073216713F → C in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781237dbSNPEnsembl.1
Natural variantiVAR_073217785V → I Common polymorphism; may be associated with AS. 1 PublicationCorresponds to variant rs587782910dbSNPEnsembl.1
Natural variantiVAR_008144826I → II in AS. 1 Publication1
Natural variantiVAR_073218850P → L in AS; unknown pathological significance. 1 PublicationCorresponds to variant rs587781239dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0067051 – 23Missing in isoform I. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_0067061 – 10MEKLHQCYWK → MATACKR in isoform III. 2 Publications10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98021
, X98027, X98022, X98023, X98024, X98025, X98026, X98028, X98029, X98030 Genomic DNA. Translation: CAA66653.1.
X98031 mRNA. Translation: CAA66654.1.
X98032 mRNA. Translation: CAA66655.1.
X98033 mRNA. Translation: CAA66656.1.
AC100774 Genomic DNA. No translation available.
AK292514 mRNA. Translation: BAF85203.1.
AC124997 Genomic DNA. No translation available.
CH471151 Genomic DNA. Translation: EAW57645.1.
L07557 mRNA. Translation: AAA35542.1.
AF016708
, AF016703, AF016704, AF016705, AF016706, AF016707 Genomic DNA. Translation: AAB69154.1.
U84404 mRNA. Translation: AAB49301.1.
AJ001107 Genomic DNA. Translation: CAA04534.1.
AJ001108 Genomic DNA. Translation: CAA04535.1.
AJ001109 Genomic DNA. Translation: CAA04536.1.
AJ001110 Genomic DNA. Translation: CAA04537.1.
AJ001111 Genomic DNA. Translation: CAA04538.1.
AJ001112 Genomic DNA. Translation: CAA04539.1.
CCDSiCCDS32177.1. [Q05086-2]
CCDS45191.1. [Q05086-3]
CCDS45192.1. [Q05086-1]
RefSeqiNP_000453.2. NM_000462.3. [Q05086-1]
NP_570853.1. NM_130838.1. [Q05086-2]
NP_570854.1. NM_130839.2. [Q05086-3]
XP_005268324.1. XM_005268267.4. [Q05086-2]
XP_005268325.1. XM_005268268.4. [Q05086-2]
XP_005268326.1. XM_005268269.4. [Q05086-2]
XP_005268327.1. XM_005268270.4. [Q05086-2]
XP_005268328.1. XM_005268271.4. [Q05086-2]
XP_006720738.1. XM_006720675.3. [Q05086-2]
XP_006720739.1. XM_006720676.3. [Q05086-2]
XP_011520296.1. XM_011521994.2. [Q05086-1]
XP_011520297.1. XM_011521995.2. [Q05086-1]
XP_016878033.1. XM_017022544.1. [Q05086-1]
XP_016878034.1. XM_017022545.1. [Q05086-1]
XP_016878035.1. XM_017022546.1. [Q05086-1]
XP_016878036.1. XM_017022547.1. [Q05086-3]
XP_016878037.1. XM_017022548.1. [Q05086-3]
XP_016878038.1. XM_017022549.1. [Q05086-3]
XP_016878039.1. XM_017022550.1. [Q05086-3]
XP_016878040.1. XM_017022551.1. [Q05086-2]
XP_016878041.1. XM_017022552.1. [Q05086-2]
XP_016878042.1. XM_017022553.1. [Q05086-2]
XP_016878043.1. XM_017022554.1. [Q05086-2]
XP_016878044.1. XM_017022555.1. [Q05086-2]
UniGeneiHs.598862.

Genome annotation databases

EnsembliENST00000232165; ENSP00000232165; ENSG00000114062. [Q05086-2]
ENST00000397954; ENSP00000381045; ENSG00000114062. [Q05086-1]
ENST00000428984; ENSP00000401265; ENSG00000114062. [Q05086-2]
ENST00000438097; ENSP00000411258; ENSG00000114062. [Q05086-2]
ENST00000566215; ENSP00000457771; ENSG00000114062. [Q05086-2]
ENST00000614096; ENSP00000481796; ENSG00000114062. [Q05086-3]
ENST00000630424; ENSP00000486349; ENSG00000114062. [Q05086-2]
ENST00000637886; ENSP00000490258; ENSG00000114062. [Q05086-3]
ENST00000638011; ENSP00000490111; ENSG00000114062. [Q05086-2]
ENST00000638155; ENSP00000490557; ENSG00000114062. [Q05086-2]
GeneIDi7337.
KEGGihsa:7337.
UCSCiuc001zaq.4. human. [Q05086-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98021
, X98027, X98022, X98023, X98024, X98025, X98026, X98028, X98029, X98030 Genomic DNA. Translation: CAA66653.1.
X98031 mRNA. Translation: CAA66654.1.
X98032 mRNA. Translation: CAA66655.1.
X98033 mRNA. Translation: CAA66656.1.
AC100774 Genomic DNA. No translation available.
AK292514 mRNA. Translation: BAF85203.1.
AC124997 Genomic DNA. No translation available.
CH471151 Genomic DNA. Translation: EAW57645.1.
L07557 mRNA. Translation: AAA35542.1.
AF016708
, AF016703, AF016704, AF016705, AF016706, AF016707 Genomic DNA. Translation: AAB69154.1.
U84404 mRNA. Translation: AAB49301.1.
AJ001107 Genomic DNA. Translation: CAA04534.1.
AJ001108 Genomic DNA. Translation: CAA04535.1.
AJ001109 Genomic DNA. Translation: CAA04536.1.
AJ001110 Genomic DNA. Translation: CAA04537.1.
AJ001111 Genomic DNA. Translation: CAA04538.1.
AJ001112 Genomic DNA. Translation: CAA04539.1.
CCDSiCCDS32177.1. [Q05086-2]
CCDS45191.1. [Q05086-3]
CCDS45192.1. [Q05086-1]
RefSeqiNP_000453.2. NM_000462.3. [Q05086-1]
NP_570853.1. NM_130838.1. [Q05086-2]
NP_570854.1. NM_130839.2. [Q05086-3]
XP_005268324.1. XM_005268267.4. [Q05086-2]
XP_005268325.1. XM_005268268.4. [Q05086-2]
XP_005268326.1. XM_005268269.4. [Q05086-2]
XP_005268327.1. XM_005268270.4. [Q05086-2]
XP_005268328.1. XM_005268271.4. [Q05086-2]
XP_006720738.1. XM_006720675.3. [Q05086-2]
XP_006720739.1. XM_006720676.3. [Q05086-2]
XP_011520296.1. XM_011521994.2. [Q05086-1]
XP_011520297.1. XM_011521995.2. [Q05086-1]
XP_016878033.1. XM_017022544.1. [Q05086-1]
XP_016878034.1. XM_017022545.1. [Q05086-1]
XP_016878035.1. XM_017022546.1. [Q05086-1]
XP_016878036.1. XM_017022547.1. [Q05086-3]
XP_016878037.1. XM_017022548.1. [Q05086-3]
XP_016878038.1. XM_017022549.1. [Q05086-3]
XP_016878039.1. XM_017022550.1. [Q05086-3]
XP_016878040.1. XM_017022551.1. [Q05086-2]
XP_016878041.1. XM_017022552.1. [Q05086-2]
XP_016878042.1. XM_017022553.1. [Q05086-2]
XP_016878043.1. XM_017022554.1. [Q05086-2]
XP_016878044.1. XM_017022555.1. [Q05086-2]
UniGeneiHs.598862.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1C4ZX-ray2.60A/B/C518-875[»]
1D5FX-ray2.80A/B/C518-875[»]
1EQXNMR-A401-418[»]
2KR1NMR-A24-87[»]
4GIZX-ray2.55A/B403-414[»]
ProteinModelPortaliQ05086.
SMRiQ05086.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113185. 174 interactors.
DIPiDIP-6002N.
IntActiQ05086. 57 interactors.
MINTiMINT-147444.
STRINGi9606.ENSP00000381045.

PTM databases

iPTMnetiQ05086.
PhosphoSitePlusiQ05086.

Polymorphism and mutation databases

BioMutaiUBE3A.
DMDMi215274240.

Proteomic databases

EPDiQ05086.
MaxQBiQ05086.
PaxDbiQ05086.
PeptideAtlasiQ05086.
PRIDEiQ05086.

Protocols and materials databases

DNASUi7337.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000232165; ENSP00000232165; ENSG00000114062. [Q05086-2]
ENST00000397954; ENSP00000381045; ENSG00000114062. [Q05086-1]
ENST00000428984; ENSP00000401265; ENSG00000114062. [Q05086-2]
ENST00000438097; ENSP00000411258; ENSG00000114062. [Q05086-2]
ENST00000566215; ENSP00000457771; ENSG00000114062. [Q05086-2]
ENST00000614096; ENSP00000481796; ENSG00000114062. [Q05086-3]
ENST00000630424; ENSP00000486349; ENSG00000114062. [Q05086-2]
ENST00000637886; ENSP00000490258; ENSG00000114062. [Q05086-3]
ENST00000638011; ENSP00000490111; ENSG00000114062. [Q05086-2]
ENST00000638155; ENSP00000490557; ENSG00000114062. [Q05086-2]
GeneIDi7337.
KEGGihsa:7337.
UCSCiuc001zaq.4. human. [Q05086-1]

Organism-specific databases

CTDi7337.
DisGeNETi7337.
GeneCardsiUBE3A.
GeneReviewsiUBE3A.
HGNCiHGNC:12496. UBE3A.
HPAiCAB009723.
HPA039410.
HPA040380.
MalaCardsiUBE3A.
MIMi105830. phenotype.
601623. gene.
neXtProtiNX_Q05086.
OpenTargetsiENSG00000114062.
Orphaneti72. Angelman syndrome.
PharmGKBiPA37144.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0941. Eukaryota.
COG5021. LUCA.
GeneTreeiENSGT00860000133671.
HOVERGENiHBG059326.
InParanoidiQ05086.
KOiK10587.
OMAiNAFRKGF.
OrthoDBiEOG091G01LV.
PhylomeDBiQ05086.
TreeFamiTF315189.

Enzyme and pathway databases

UniPathwayiUPA00143.
BioCyciZFISH:ENSG00000114062-MONOMER.
BRENDAi2.3.2.B9. 2681.
6.3.2.19. 2681.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
SIGNORiQ05086.

Miscellaneous databases

EvolutionaryTraceiQ05086.
GeneWikiiUBE3A.
GenomeRNAii7337.
PROiQ05086.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114062.
ExpressionAtlasiQ05086. baseline and differential.
GenevisibleiQ05086. HS.

Family and domain databases

CDDicd00078. HECTc. 1 hit.
InterProiIPR032353. AZUL.
IPR000569. HECT_dom.
IPR017134. UBE3A.
[Graphical view]
PfamiPF16558. AZUL. 1 hit.
PF00632. HECT. 1 hit.
[Graphical view]
PIRSFiPIRSF037201. Ubiquitin-protein_ligase_E6-AP. 1 hit.
SMARTiSM00119. HECTc. 1 hit.
[Graphical view]
SUPFAMiSSF56204. SSF56204. 1 hit.
PROSITEiPS50237. HECT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiUBE3A_HUMAN
AccessioniPrimary (citable) accession number: Q05086
Secondary accession number(s): A8K8Z9
, P78355, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 175 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

A cysteine residue is required for ubiquitin-thioester formation.

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.