Homo sapiens Protein: HERC2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-4487.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | HERC2 | ||||||||||||||||||||||
Protein Name | hect domain and RLD 2 | ||||||||||||||||||||||
Synonyms | D15F37S1; jdf2; MRT38; p528; SHEP1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000261609 | ||||||||||||||||||||||
InnateDB Gene | IDBG-4485 (HERC2) | ||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||
Function | E3 ubiquitin-protein ligase that regulates ubiquitin- dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of 'Lys-63'-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscillation of DNA excision repair activity. {ECO:0000269PubMed:20023648, ECO:0000269PubMed:20304803, ECO:0000269PubMed:22508508}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus. Note=Recruited to sites of DNA damage in response to ionizing radiation (IR) via its interaction with RNF8. May loose association with centrosomes during mitosis. | ||||||||||||||||||||||
Disease Associations | Mental retardation, autosomal recessive 38 (MRT38) [MIM:615516]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT38 is characterized by global developmental delay affecting motor, speech, adaptive, and social development. Patients manifest autistic features, aggression, self-injury, impulsivity, and distractibility. {ECO:0000269PubMed:23065719}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 58 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000408
Regulator of chromosome condensation, RCC1 IPR000433 Zinc finger, ZZ-type IPR000569 HECT IPR000859 CUB domain IPR001199 Cytochrome b5-like heme/steroid binding domain IPR004939 Anaphase-promoting complex, subunit 10/DOC domain IPR006624 Beta-propeller repeat TECPR IPR008979 Galactose-binding domain-like IPR009060 UBA-like IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II IPR010606 Mib-herc2 IPR021097 CPH domain |
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PFAM |
PF00415
PF00569 PF00632 PF00431 PF00173 PF03256 PF06462 PF06701 PF11515 |
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PRINTS |
PR00633
PR00363 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00291
SM00119 SM00042 SM00706 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O95714 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O95714 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 8924 | ||||||||||||||||||||||
UniGene | Hs.741019 | ||||||||||||||||||||||
RefSeq | NP_004658 | ||||||||||||||||||||||
HUGO | HGNC:4868 | ||||||||||||||||||||||
OMIM | 605837 | ||||||||||||||||||||||
CCDS | CCDS10021 | ||||||||||||||||||||||
HPRD | 06905 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC091304 AC126332 AC135329 AF071172 AF224242 AF224243 AF224244 AF224245 AF224246 AF224247 AF224248 AF224249 AF224250 AF224251 AF224252 AF224253 AF224254 AF224255 AF224256 AF224257 AF225400 AF225401 AF225402 AF225403 AF225404 AF225405 AF225406 AF225407 AF225408 AF225409 | ||||||||||||||||||||||
GenPept | AAD08657 AAO27473 AAO27474 AAO27475 AAO27476 AAO27477 AAO27478 AAO27479 AAO27480 AAO27481 AAO27482 AAO27483 AAO27484 | ||||||||||||||||||||||