• Gene id: 51191

Gene Summary

• Gene Symbol: HERC5   Gene   UCSC   Ensembl
• Aliases: CEB1, CEBP1
• Gene name: HECT and RLD domain containing E3 ubiquitin protein ligase 5
• Alternate names: E3 ISG15--protein ligase HERC5, HECT domain and RCC1-like domain-containing protein 5, cyclin-E-binding protein 1, hect domain and RLD 5, probable E3 ubiquitin-protein ligase HERC5,
• Gene location: 4q22.1 (88456603: 88506169)     Exons: 23     NC_000004.12
• Gene summary(Entrez): This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and pe
• OMIM: 123695

Protein Summary

• Protein general information: Q9UII4  
  • Name: E3 ISG15 protein ligase HERC5 (EC 2.3.2. ) (Cyclin E binding protein 1) (HECT domain and RCC1 like domain containing protein 5)
  • Length: 1024  
  • Mass: 116852
  • Tissue specificity: Expressed in testis and to a lesser degree in brain, ovary and placenta. Found in most tissues at low levels. {ECO
• Sequence:

  MERRSRRKSRRNGRSTAGKAAATQPAKSPGAQLWLFPSAAGLHRALLRRVEVTRQLCCSPGRLAVLERGGAGVQV
  HQLLAGSGGARTPKCIKLGKNMKIHSVDQGAEHMLILSSDGKPFEYDNYSMKHLRFESILQEKKIIQITCGDYHS
  LALSKGGELFAWGQNLHGQLGVGRKFPSTTTPQIVEHLAGVPLAQISAGEAHSMALSMSGNIYSWGKNECGQLGL
  GHTESKDDPSLIEGLDNQKVEFVACGGSHSALLTQDGLLFTFGAGKHGQLGHNSTQNELRPCLVAELVGYRVTQI
  ACGRWHTLAYVSDLGKVFSFGSGKDGQLGNGGTRDQLMPLPVKVSSSEELKLESHTSEKELIMIAGGNQSILLWI
  KKENSYVNLKRTIPTLNEGTVKRWIADVETKRWQSTKREIQEIFSSPACLTGSFLRKRRTTEMMPVYLDLNKARN
  IFKELTQKDWITNMITTCLKDNLLKRLPFHSPPQEALEIFFLLPECPMMHISNNWESLVVPFAKVVCKMSDQSSL
  VLEEYWATLQESTFSKLVQMFKTAVICQLDYWDESAEENGNVQALLEMLKKLHRVNQVKCQLPESIFQVDELLHR
  LNFFVEVCRRYLWKMTVDASENVQCCVIFSHFPFIFNNLSKIKLLHTDTLLKIESKKHKAYLRSAAIEEERESEF
  ALRPTFDLTVRRNHLIEDVLNQLSQFENEDLRKELWVSFSGEIGYDLGGVKKEFFYCLFAEMIQPEYGMFMYPEG
  ASCMWFPVKPKFEKKRYFFFGVLCGLSLFNCNVANLPFPLALFKKLLDQMPSLEDLKELSPDLGKNLQTLLDDEG
  DNFEEVFYIHFNVHWDRNDTNLIPNGSSITVNQTNKRDYVSKYINYIFNDSVKAVYEEFRRGFYKMCDEDIIKLF
  HPEELKDVIVGNTDYDWKTFEKNARYEPGYNSSHPTIVMFWKAFHKLTLEEKKKFLVFLTGTDRLQMKDLNNMKI
  TFCCPESWNERDPIRALTCFSVLFLPKYSTMETVEEALQEAINNNRGFG

• Structural information:
  • Protein Domains: (702..102-)
    (/note="HECT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00104"-)
  • Interpro: IPR000569  IPR035983  IPR009091  IPR000408  
  • Prosite: PS50237 PS00626 PS50012
  • CDD: cd00078
  • DIP: 44200
  • STRING: ENSP00000264350
• Other Databases: GeneCards:  HERC5  Malacards:  HERC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042296	ISG15 transferase activity	IBA	molecular function
GO:0050688	regulation of defense response to virus	IBA	biological process
GO:0032020	ISG15-protein conjugation	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0032480	negative regulation of type I interferon production	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0042296	ISG15 transferase activity	IDA	molecular function
GO:0050688	regulation of defense response to virus	IDA	biological process
GO:0032020	ISG15-protein conjugation	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq