Homo sapiens Protein: HERC2
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
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.
Experimentally validated
Total 58 [view]
Protein-Protein 57 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004842 ubiquitin-protein transferase activity
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0020037 heme binding
GO:0031625 ubiquitin protein ligase binding
GO:0032183 SUMO binding
GO:0046872 metal ion binding
Biological Process
GO:0006281 DNA repair
GO:0006886 intracellular protein transport
GO:0006974 cellular response to DNA damage stimulus
GO:0007283 spermatogenesis
GO:0016567 protein ubiquitination
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0043547 positive regulation of GTPase activity
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005743 mitochondrial inner membrane
GO:0005814 centriole
GO:0016020 membrane
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
PFAM PF00415
PF00569
PF00632
PF00431
PF00173
PF03256
PF06462
PF06701
PF11515
PRINTS PR00633
PR00363
PIRSF
SMART SM00291
SM00119
SM00042
SM00706
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