| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... |
cpath:CPATH-LOCAL-314706,
cpath:CPATH-LOCAL-314706,
cpath:CPATH-LOCAL-314707,
cpath:CPATH-LOCAL-314707,
cpath:CPATH-LOCAL-314708,
cpath:CPATH-LOCAL-314708,
cpath:CPATH-LOCAL-314709,
cpath:CPATH-LOCAL-314709,
cpath:CPATH-LOCAL-314710,
cpath:CPATH-LOCAL-314710,
cpath:CPATH-LOCAL-314711,
cpath:CPATH-LOCAL-314711,
cpath:CPATH-LOCAL-314712,
cpath:CPATH-LOCAL-314712,
cpath:CPATH-LOCAL-314713,
cpath:CPATH-LOCAL-314713,
cpath:CPATH-LOCAL-314714,
cpath:CPATH-LOCAL-314714,
cpath:CPATH-LOCAL-314715,
cpath:CPATH-LOCAL-314715,
cpath:CPATH-LOCAL-314716,
cpath:CPATH-LOCAL-314716,
cpath:CPATH-LOCAL-314717,
cpath:CPATH-LOCAL-314717,
cpath:CPATH-LOCAL-314718,
cpath:CPATH-LOCAL-314718,
cpath:CPATH-LOCAL-314719,
cpath:CPATH-LOCAL-314719,
cpath:CPATH-LOCAL-314720,
cpath:CPATH-LOCAL-314720,
cpath:CPATH-LOCAL-321871,
cpath:CPATH-LOCAL-321871
|
| http://www.biopax.org/relea... |
Ubiquitin-protein ligase E3A,
Ubiquitin-protein ligase E3A
|
| http://www.biopax.org/relea... |
UBE3A_HUMAN,
UBE3A_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
6.3.2.-,
6.3.2.-,
E6AP ubiquitin-protein ligase,
E6AP ubiquitin-protein ligase,
Human papillomavirus E6-associated protein,
Human papillomavirus E6-associated protein,
Oncogenic protein-associated protein E6-AP,
Oncogenic protein-associated protein E6-AP,
Renal carcinoma antigen NY-REN-54,
Renal carcinoma antigen NY-REN-54
|
| http://www.biopax.org/relea... |
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. 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. 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. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: 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. SUBCELLULAR LOCATION: Nucleus (Probable). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=II; IsoId=Q05086-1; Sequence=Displayed; Name=I; IsoId=Q05086-2; Sequence=VSP_006705; Name=III; IsoId=Q05086-3; Sequence=VSP_006706; PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in UBE3A are a cause of Angelman syndrome (AS) [MIM:105830]; also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove. MISCELLANEOUS: A cysteine residue is required for ubiquitin- thioester formation. SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain. SEQUENCE CAUTION: Sequence=AAA35542.1; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/UBE3AID42756ch15q11.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UBE3A"; GENE SYNONYMS: E6AP EPVE6AP HPVE6A. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
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. 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. 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. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: 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. SUBCELLULAR LOCATION: Nucleus (Probable). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=II; IsoId=Q05086-1; Sequence=Displayed; Name=I; IsoId=Q05086-2; Sequence=VSP_006705; Name=III; IsoId=Q05086-3; Sequence=VSP_006706; PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in UBE3A are a cause of Angelman syndrome (AS) [MIM:105830]; also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove. MISCELLANEOUS: A cysteine residue is required for ubiquitin- thioester formation. SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain. SEQUENCE CAUTION: Sequence=AAA35542.1; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/UBE3AID42756ch15q11.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UBE3A"; GENE SYNONYMS: E6AP EPVE6AP HPVE6A. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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| skos:exactMatch |