Details for: UBE3A

Gene ID: 7337

Symbol: UBE3A

Ensembl ID: ENSG00000114062

Description: ubiquitin protein ligase E3A

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 483.7821
    Cell Significance Index: -75.2500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 293.5223
    Cell Significance Index: -74.4500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 173.8108
    Cell Significance Index: -82.0600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 169.6216
    Cell Significance Index: -68.9100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 151.8706
    Cell Significance Index: -78.1200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 72.6374
    Cell Significance Index: -69.3500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 64.7306
    Cell Significance Index: -79.8100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 28.6447
    Cell Significance Index: -76.7400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 22.0840
    Cell Significance Index: -67.8300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 20.4635
    Cell Significance Index: -80.7500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 15.1011
    Cell Significance Index: -33.0500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 3.7079
    Cell Significance Index: 45.9900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 2.7987
    Cell Significance Index: 157.0500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.7065
    Cell Significance Index: 542.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.2415
    Cell Significance Index: 1550.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.1928
    Cell Significance Index: 786.5100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.1835
    Cell Significance Index: 82.6900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.1536
    Cell Significance Index: 427.3800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.1135
    Cell Significance Index: 93.4900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.0097
    Cell Significance Index: 135.1300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.8096
    Cell Significance Index: 1633.9000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.8020
    Cell Significance Index: 196.0000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.7227
    Cell Significance Index: 132.2000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.5861
    Cell Significance Index: 21.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.4385
    Cell Significance Index: 40.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.3853
    Cell Significance Index: 249.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.2662
    Cell Significance Index: 155.7000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.1415
    Cell Significance Index: 31.0700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 1.1250
    Cell Significance Index: 27.4500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9861
    Cell Significance Index: 135.4200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.9764
    Cell Significance Index: 50.8600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8478
    Cell Significance Index: 38.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7678
    Cell Significance Index: 419.3400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7046
    Cell Significance Index: 311.5000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.7012
    Cell Significance Index: 20.0100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.6587
    Cell Significance Index: 12.8600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5912
    Cell Significance Index: 17.0400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4790
    Cell Significance Index: 56.4900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.3723
    Cell Significance Index: 6.3800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3628
    Cell Significance Index: 23.4100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3560
    Cell Significance Index: 16.7300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3475
    Cell Significance Index: 16.2000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3382
    Cell Significance Index: 64.3700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3337
    Cell Significance Index: 628.2300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3249
    Cell Significance Index: 41.6500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.3038
    Cell Significance Index: 413.1200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2273
    Cell Significance Index: 29.3600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1977
    Cell Significance Index: 89.7500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1712
    Cell Significance Index: 108.7200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1505
    Cell Significance Index: 231.7200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1502
    Cell Significance Index: 7.8000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1456
    Cell Significance Index: 24.8700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1347
    Cell Significance Index: 248.3400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1252
    Cell Significance Index: 4.3500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1246
    Cell Significance Index: 4.3800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0653
    Cell Significance Index: 4.6200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0300
    Cell Significance Index: 0.8000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0079
    Cell Significance Index: -5.8200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0433
    Cell Significance Index: -32.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0679
    Cell Significance Index: -51.4100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0776
    Cell Significance Index: -7.6800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0781
    Cell Significance Index: -48.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1040
    Cell Significance Index: -58.6600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1079
    Cell Significance Index: -8.0400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1411
    Cell Significance Index: -3.7100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1468
    Cell Significance Index: -15.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1929
    Cell Significance Index: -10.1300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2005
    Cell Significance Index: -2.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2056
    Cell Significance Index: -43.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2339
    Cell Significance Index: -27.2600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2496
    Cell Significance Index: -71.8100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2567
    Cell Significance Index: -37.3200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2737
    Cell Significance Index: -4.5800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2756
    Cell Significance Index: -7.9000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3122
    Cell Significance Index: -35.7700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3259
    Cell Significance Index: -20.5400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.4537
    Cell Significance Index: -51.7900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.4743
    Cell Significance Index: -7.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5215
    Cell Significance Index: -54.3000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6602
    Cell Significance Index: -13.8200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6730
    Cell Significance Index: -17.3000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.7207
    Cell Significance Index: -16.6500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.7354
    Cell Significance Index: -9.1700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.7395
    Cell Significance Index: -8.8200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.7874
    Cell Significance Index: -25.2200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.8068
    Cell Significance Index: -63.9000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.9285
    Cell Significance Index: -8.5500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.9429
    Cell Significance Index: -20.1600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.9473
    Cell Significance Index: -58.2300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -1.0276
    Cell Significance Index: -22.5000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.0369
    Cell Significance Index: -27.7900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.0833
    Cell Significance Index: -23.4700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0948
    Cell Significance Index: -67.1200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -1.1084
    Cell Significance Index: -13.9900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -1.2534
    Cell Significance Index: -18.5000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.2618
    Cell Significance Index: -41.3100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -1.2907
    Cell Significance Index: -37.9100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.2939
    Cell Significance Index: -41.2100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.4298
    Cell Significance Index: -30.4500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.4752
    Cell Significance Index: -39.4600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Ubiquitin ligase activity**: UBE3A is a ubiquitin ligase, which means it has the ability to recognize and tag specific proteins for degradation by the proteasome. 2. **Highly expressed in neurons**: UBE3A is highly expressed in neurons, particularly in the brain, where it plays a critical role in regulating synaptic plasticity and learning. 3. **Cellular localization**: UBE3A is localized to the cytosol, nucleus, and Golgi apparatus, where it can interact with other proteins and regulate various cellular processes. 4. **Regulation of protein degradation**: UBE3A is involved in the regulation of protein degradation through the ubiquitin-proteasome system, which is essential for maintaining protein homeostasis and regulating cellular processes. **Pathways and Functions** 1. **Adaptive immune system**: UBE3A is involved in the regulation of immune cell function and the adaptive immune response. 2. **Androgen receptor signaling pathway**: UBE3A interacts with the androgen receptor to regulate gene expression and cell growth. 3. **Antigen processing and presentation**: UBE3A is involved in the regulation of antigen processing and presentation, which is critical for the activation of immune cells. 4. **Brain development**: UBE3A plays a critical role in brain development and synaptic plasticity, particularly in the regulation of neuronal growth and differentiation. 5. **Cytoskeleton regulation**: UBE3A is involved in the regulation of cytoskeleton dynamics, which is essential for cell migration, division, and differentiation. 6. **Protein ubiquitination**: UBE3A is involved in the regulation of protein ubiquitination, which is a key mechanism for protein degradation and regulation. 7. **Regulation of circadian rhythm**: UBE3A is involved in the regulation of circadian rhythm, which is critical for maintaining physiological homeostasis. **Clinical Significance** 1. **Fragile X syndrome**: UBE3A is mutated in fragile X syndrome, a genetic disorder characterized by intellectual disability, autism, and behavioral problems. 2. **Neurodegenerative diseases**: UBE3A has been implicated in various neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and Huntington's disease. 3. **Cancer**: UBE3A is involved in the regulation of cancer cell growth and survival, and its dysregulation has been implicated in various types of cancer. 4. **Immunological disorders**: UBE3A is involved in the regulation of immune cell function, and its dysregulation has been implicated in various immunological disorders, including autoimmune diseases and immunodeficiency disorders. In conclusion, UBE3A is a critical gene that plays a vital role in regulating various cellular processes, including protein degradation, synaptic plasticity, and immune function. Its dysregulation has been implicated in various physiological and pathological processes, and further research is needed to fully understand its role in human disease.

Genular Protein ID: 631186967

Symbol: UBE3A_HUMAN

Name: Ubiquitin-protein ligase E3A

UniProtKB Accession Codes:

Q05086 A8K8Z9 P78355 Q93066 Q9UEP4 Q9UEP5 Q9UEP6 Q9UEP7 Q9UEP8 Q9UEP9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 31 EMDB 9 Ensembl 10 EvolutionaryTrace 1 ExpressionAtlas 1 GO 36 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 MoonDB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 22 PDBsum 22 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 24 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9143503

Title: The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.

PubMed ID: 9143503

DOI: 10.1006/geno.1997.4617

PubMed ID: 8988171

Title: UBE3A/E6-AP mutations cause Angelman syndrome.

PubMed ID: 8988171

DOI: 10.1038/ng0197-70

PubMed ID: 8988172

Title: De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

PubMed ID: 8988172

DOI: 10.1038/ng0197-74

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 8380895

Title: 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

DOI: 10.1128/mcb.13.2.775-784.1993

PubMed ID: 9688277

Title: The ubiquitin-protein ligase E6-associated protein (E6-AP) serves as its own substrate.

PubMed ID: 9688277

DOI: 10.1046/j.1432-1327.1998.2540643.x

PubMed ID: 10508479

Title: Antigens recognized by autologous antibody in patients with renal-cell carcinoma.

PubMed ID: 10508479

DOI: 10.1002/(sici)1097-0215(19991112)83:4<456::aid-ijc4>3.0.co;2-5

PubMed ID: 10373495

Title: Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination.

PubMed ID: 10373495

DOI: 10.1074/jbc.274.26.18785

PubMed ID: 10983987

Title: The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome.

PubMed ID: 10983987

DOI: 10.1016/s1097-2765(00)00040-x

PubMed ID: 12207887

Title: VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A.

PubMed ID: 12207887

DOI: 10.1016/s0006-291x(02)02040-5

PubMed ID: 16772533

Title: WW domain binding protein-2, an E6-associated protein interacting protein, acts as a coactivator of estrogen and progesterone receptors.

PubMed ID: 16772533

DOI: 10.1210/me.2005-0533

PubMed ID: 17323924

Title: Mass spectrometric characterization of the affinity-purified human 26S proteasome complex.

PubMed ID: 17323924

DOI: 10.1021/bi061994u

PubMed ID: 17108031

Title: E6AP ubiquitin ligase mediates ubiquitylation and degradation of hepatitis C virus core protein.

PubMed ID: 17108031

DOI: 10.1128/jvi.01684-06

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 19325566

Title: E6AP promotes the degradation of the PML tumor suppressor.

PubMed ID: 19325566

DOI: 10.1038/cdd.2009.31

PubMed ID: 19233847

Title: The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of Hsp70-bound misfolded proteins.

PubMed ID: 19233847

DOI: 10.1074/jbc.m806804200

PubMed ID: 19204938

Title: Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation.

PubMed ID: 19204938

DOI: 10.1002/jcb.22096

PubMed ID: 19591933

Title: UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degrADation of p27.

PubMed ID: 19591933

DOI: 10.1016/j.nbd.2009.06.010

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21642474

Title: Tyrosine phosphorylation of transcriptional coactivator WW-domain binding protein 2 regulates estrogen receptor alpha function in breast cancer via the Wnt pathway.

PubMed ID: 21642474

DOI: 10.1096/fj.10-169136

PubMed ID: 22645313

Title: Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.

PubMed ID: 22645313

DOI: 10.1128/mcb.00201-12

PubMed ID: 23581475

Title: c-Abl phosphorylates E6AP and regulates its E3 ubiquitin ligase activity.

PubMed ID: 23581475

DOI: 10.1021/bi301710c

PubMed ID: 24273172

Title: The active form of E6-associated protein (E6AP)/UBE3A ubiquitin ligase is an oligomer.

PubMed ID: 24273172

DOI: 10.1074/jbc.m113.517805

PubMed ID: 24728990

Title: The E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factor.

PubMed ID: 24728990

DOI: 10.1093/nar/gku225

PubMed ID: 30020076

Title: UBE3A-mediated p18/LAMTOR1 ubiquitination and degradation regulate mTORC1 activity and synaptic plasticity.

PubMed ID: 30020076

DOI: 10.7554/elife.37993

PubMed ID: 10558980

Title: Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade.

PubMed ID: 10558980

DOI: 10.1126/science.286.5443.1321

PubMed ID: 11170455

Title: Solution structure determination and mutational analysis of the papillomavirus E6 interacting peptide of E6AP.

PubMed ID: 11170455

DOI: 10.1021/bi0019592

PubMed ID: 21947926

Title: Zn-binding AZUL domain of human ubiquitin protein ligase Ube3A.

PubMed ID: 21947926

DOI: 10.1007/s10858-011-9552-y

PubMed ID: 9585605

Title: Mutation analysis of UBE3A in Angelman syndrome patients.

PubMed ID: 9585605

DOI: 10.1086/301877

PubMed ID: 25212744

Title: Mutation update for UBE3A variants in Angelman syndrome.

PubMed ID: 25212744

DOI: 10.1002/humu.22687

Sequence Information:

  • Length: 875
  • Mass: 100688
  • Checksum: F80F0502B3B3838A
  • Sequence:
    • MEKLHQCYWK SGEPQSDDIE ASRMKRAAAK HLIERYYHQL TEGCGNEACT NEFCASCPTF 
LRMDNNAAAI KALELYKINA KLCDPHPSKK GASSAYLENS KGAPNNSCSE IKMNKKGARI 
DFKDVTYLTE EKVYEILELC REREDYSPLI RVIGRVFSSA EALVQSFRKV KQHTKEELKS 
LQAKDEDKDE DEKEKAACSA AAMEEDSEAS SSRIGDSSQG DNNLQKLGPD DVSVDIDAIR 
RVYTRLLSNE KIETAFLNAL VYLSPNVECD LTYHNVYSRD PNYLNLFIIV MENRNLHSPE 
YLEMALPLFC KAMSKLPLAA QGKLIRLWSK YNADQIRRMM ETFQQLITYK VISNEFNSRN 
LVNDDDAIVA ASKCLKMVYY ANVVGGEVDT NHNEEDDEEP IPESSELTLQ ELLGEERRNK 
KGPRVDPLET ELGVKTLDCR KPLIPFEEFI NEPLNEVLEM DKDYTFFKVE TENKFSFMTC 
PFILNAVTKN LGLYYDNRIR MYSERRITVL YSLVQGQQLN PYLRLKVRRD HIIDDALVRL 
EMIAMENPAD LKKQLYVEFE GEQGVDEGGV SKEFFQLVVE EIFNPDIGMF TYDESTKLFW 
FNPSSFETEG QFTLIGIVLG LAIYNNCILD VHFPMVVYRK LMGKKGTFRD LGDSHPVLYQ 
SLKDLLEYEG NVEDDMMITF QISQTDLFGN PMMYDLKENG DKIPITNENR KEFVNLYSDY 
ILNKSVEKQF KAFRRGFHMV TNESPLKYLF RPEEIELLIC GSRNLDFQAL EETTEYDGGY 
TRDSVLIREF WEIVHSFTDE QKRLFLQFTT GTDRAPVGGL GKLKMIIAKN GPDTERLPTS 
HTCFNVLLLP EYSSKEKLKE RLLKAITYAK GFGML

Genular Protein ID: 3449436212

Symbol: Q9H2G0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9H2G0

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 ExpressionAtlas 1 GO 7 Gene3D 4 HOGENOM 1 InterPro 6 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PROSITE 2 PROSITE-ProRule 1 Pfam 2 PharmGKB 1 RefSeq 13 SAM 1 SMART 1 SMR 1 SUPFAM 1 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 11149944

Title: Serological detection of cutaneous T-cell lymphoma-associated antigens.

PubMed ID: 11149944

DOI: 10.1073/pnas.021386498

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 852
  • Mass: 97968
  • Checksum: 3C061DA8D216055A
  • Sequence:
    • MKRAAAKHLI ERYYHQLTEG CGNEACTNEF CASCPTFLRM DNNAAAIKAL ELYKINAKLC 
DPHPSKKGAS SAYLENSKGA PNNSCSEIKM NKKGARIDFK DVTYLTEEKV YEILELCRER 
EDYSPLIRVI GRVFSSAEAL VQSFRKVKQH TKEELKSLQA KDEDKDEDEK EKAACSAAAM 
EEDSEASSSR IGDSSQGDNN LQKLGPDDVS VDIDAIRRVY TRLLSNEKIE TAFLNALVYL 
SPNVECDLTY HNVYSRDPNY LNLFIIVMEN RNLHSPEYLE MALPLFCKAM SKLPLAAQGK 
LIRLWSKYNA DQIRRMMETF QQLITYKVIS NEFNSRNLVN DDDAIVAASK CLKMVYYANV 
VGGEVDTNHN EEDDEEPIPE SSELTLQELL GEERRNKKGP RVDPLETELG VKTLDCRKPL 
IPFEEFINEP LNEVLEMDKD YTFFKVETEN KFSFMTCPFI LNAVTKNLGL YYDNRIRMYS 
ERRITVLYSL VQGQQLNPYL RLKVRRDHII DDALVRLEMI AMENPADLKK QLYVEFEGEQ 
GVDEGGVSKE FFQLVVEEIF NPDIGMFTYD ESTKLFWFNP SSFETEGQFT LIGIVLGLAI 
YNNCILDVHF PMVVYRKLMG KKGTFRDLGD SHPVLYQSLK DLLEYEGNVE DDMMITFQIS 
QTDLFGNPMM YDLKENGDKI PITNENRKEF VNLYSDYILN KSVEKQFKAF RRGFHMVTNE 
SPLKYLFRPE EIELLICGSR NLDFQALEET TEYDGGYTRD SVLIREFWEI VHSFTDEQKR 
LFLQFTTGTD RAPVGGLGKL KMIIAKNGPD TERLPTSHTC FNVLLLPEYS SKEKLKERLL 
KAITYAKGFG ML

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.