• Gene id: 9690

Gene Summary

• Gene Symbol: UBE3C   Gene   UCSC   Ensembl
• Aliases: HECTH2
• Gene name: ubiquitin protein ligase E3C
• Alternate names: ubiquitin-protein ligase E3C, HECT-type ubiquitin transferase E3C, ubiquitin-protein isopeptide ligase (E3),
• Gene location: 7q36.3 (190319825: 190203919)     Exons: 16     NC_000002.12
• OMIM: 614454

Protein Summary

• Protein general information: Q15386  
  • Name: Ubiquitin protein ligase E3C (EC 2.3.2.26) (HECT type ubiquitin transferase E3C) (HectH2)
  • Length: 1083  
  • Mass: 123923
  • Tissue specificity: Highly expressed in skeletal muscle. Detected at much lower levels in kidney and pancreas. {ECO
• Sequence:

  MFSFEGDFKTRPKVSLGGASRKEEKASLLHRTQEERRKREEERRRLKNAIIIQSFIRGYRDRKQQYSIQRSAFDR
  CATLSQSGGAFPIANGPNLTLLVRQLLFFYKQNEDSKRLIWLYQNLIKHSSLFVKQLDGSERLTCLFQIKRLMSL
  CCRLLQNCNDDSLNVALPMRMLEVFSSENTYLPVLQDASYVVSVIEQILHYMIHNGYYRSLYLLINSKLPSSIEY
  SDLSRVPIAKILLENVLKPLHFTYNSCPEGARQQVFTAFTEEFLAAPFTDQIFHFIIPALADAQTVFPYEPFLNA
  LLLIESRCSRKSGGAPWLFYFVLTVGENYLGALSEEGLLVYLRVLQTFLSQLPVSPASASCHDSASDSEEESEEA
  DKPSSPEDGRLSVSYITEECLKKLDTKQQTNTLLNLVWRDSASEEVFTTMASVCHTLMVQHRMMVPKVRLLYSLA
  FNARFLRHLWFLISSMSTRMITGSMVPLLQVISRGSPMSFEDSSRIIPLFYLFSSLFSHSLISIHDNEFFGDPIE
  VVGQRQSSMMPFTLEELIMLSRCLRDACLGIIKLAYPETKPEVREEYITAFQSIGVTTSSEMQQCIQMEQKRWIQ
  LFKVITNLVKMLKSRDTRRNFCPPNHWLSEQEDIKADKVTQLYVPASRHVWRFRRMGRIGPLQSTLDVGLESPPL
  SVSEERQLAVLTELPFVVPFEERVKIFQRLIYADKQEVQGDGPFLDGINVTIRRNYIYEDAYDKLSPENEPDLKK
  RIRVHLLNAHGLDEAGIDGGGIFREFLNELLKSGFNPNQGFFKTTNEGLLYPNPAAQMLVGDSFARHYYFLGRML
  GKALYENMLVELPFAGFFLSKLLGTSADVDIHHLASLDPEVYKNLLFLKSYEDDVEELGLNFTVVNNDLGEAQVV
  ELKFGGKDIPVTSANRIAYIHLVADYRLNRQIRQHCLAFRQGLANVVSLEWLRMFDQQEIQVLISGAQVPISLED
  LKSFTNYSGGYSADHPVIKVFWRVVEGFTDEEKRKLLKFVTSCSRPPLLGFKELYPAFCIHNGGSDLERLPTAST
  CMNLLKLPEFYDETLLRSKLLYAIECAAGFELS

• Structural information:
  • Protein Domains: (45..7-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (744..108-)
    (/note="HECT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00104"-)
  • Interpro: IPR000569  IPR035983  IPR000048  
  • Prosite: PS50237 PS50096
  • CDD: cd00078
  • STRING: ENSP00000309198
• Other Databases: GeneCards:  UBE3C  Malacards:  UBE3C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0061631	ubiquitin conjugating enzyme activity	IBA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000502	proteasome complex	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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