Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9690
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin protein ligase E3C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBE3C
Synonyms (NCBI Gene) Gene synonyms aliases
HECTH2, NDSMBA, NEDSMBA, RAUL
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025444 hsa-miR-34a-5p Proteomics 21566225
MIRT025738 hsa-miR-7-5p Microarray 19073608
MIRT029394 hsa-miR-26b-5p Microarray 19088304
MIRT052374 hsa-let-7a-5p CLASH 23622248
MIRT050883 hsa-miR-17-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IDA 33637724
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination IDA 11278995
GO:0000209 Process Protein polyubiquitination IEA
GO:0000502 Component Proteasome complex IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614454 16803 ENSG00000009335
Protein
UniProt ID Q15386
Protein name Ubiquitin-protein ligase E3C (EC 2.3.2.26) (HECT-type ubiquitin transferase E3C) (Homologous to E6AP carboxyl terminus homologous protein 2) (HectH2) (RTA-associated ubiquitin ligase) (RAUL)
Protein function E3 ubiquitin-protein ligase that specifically catalyzes 'Lys-29'- and 'Lys-48'-linked polyubiquitin chains (PubMed:11278995, PubMed:12692129, PubMed:16341092, PubMed:16601690, PubMed:24158444, PubMed:24811749, PubMed:25752573, PubMed:25752577, P
PDB 6K2C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00632 HECT 778 1083 HECT-domain (ubiquitin-transferase) Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle. Detected at much lower levels in kidney and pancreas. {ECO:0000269|PubMed:11278995, ECO:0000269|PubMed:12692129, ECO:0000269|PubMed:9575161}.
Sequence
MFSFEGDFKTRPKVSLGGASRKEEKASLLHRTQEERRKREEERRRLKNAIIIQSFIRGYR
DRKQQYSIQRSAFDRCATLSQSGGAFPIANGPNLTLLVRQLLFFYKQNEDSKRLIWLYQN
LIKHSSLFVKQLDGSERLTCLFQIKRLMSLCCRLLQNCNDDSLNVALPMRMLEVFSSENT
YLPVLQDASYVVSVIEQILHYMIHNGYYRSLYLLINSKLPSSIEYSDLSRVPIAKILLEN
VLKPLHFTYNSCPEGARQQVFTAFTEEFLAAPFTDQIFHFIIPALADAQTVFPYEPFLNA
LLLIESRCSRKSGGAPWLFYFVLTVGENYLGALSEEGLLVYLRVLQTFLSQLPVSPASAS
CHDSASDSEEESEEADKPSSPEDGRLSVSYITEECLKKLDTKQQTNTLLNLVWRDSASEE
VFTTMASVCHTLMVQHRMMVPKVRLLYSLAFNARFLRHLWFLISSMSTRMITGSMVPLLQ
VISRGSPMSFEDSSRIIPLFYLFSSLFSHSLISIHDNEFFGDPIEVVGQRQSSMMPFTLE
ELIMLSRCLRDACLGIIKLAYPETKPEVREEYITAFQSIGVTTSSEMQQCIQMEQKRWIQ
LFKVITNLVKMLKSRDTRRNFCPPNHWLSEQEDIKADKVTQLYVPASRHVWRFRRMGRIG
PLQSTLDVGLESPPLSVSEERQLAVLTELPFVVPFEERVKIFQRLIYADKQEVQGDGPFL
DGINVTIRRNYIYEDAYDKLSPENEPDLKKRIRVHLLNAHGLDEAGIDGGGIFREFLNEL
LKSGFNPNQGFFKTTNEGLLYPNPAAQMLVGDSFARHYYFLGRMLGKALYENMLVELPFA
GFFLSKLLGTSADVDIHHLASLDPEVYKNLLFLKSYEDDVEELGLNFTVVNNDLGEAQVV
ELKFGGKDIPVTSANRIAYIHLVADYRLNRQIRQHCLAFRQGLANVVSLEWLRMFDQQEI
QVLISGAQVPISLEDLKSFTNYSGGYSADHPVIKVFWRVVEGFTDEEKRKLLKFVTSCSR
PPLLGFKELYPAFCIHNGGSDLERLPTASTCMNLLKLPEFYDETLLRSKLLYAIECAAGF
ELS
Sequence length 1083
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquitin mediated proteolysis   Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Diabetes Type 2 diabetes, Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes (PheCode 250.2) N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Angelman Syndrome Associate 36401616
Breast Neoplasms Associate 26389696
Carcinoma Renal Cell Stimulate 25658088
Carcinoma Renal Cell Associate 35840930
Developmental Disabilities Associate 36401616
Diabetes Gestational Associate 34116986
Diabetes Mellitus Type 2 Associate 34116986
Glioma Associate 26067607
Intellectual Disability Associate 36401616
Melanoma Associate 26894856