ArticleProceedings of the National Academy of Sciences of the United States of America1998
A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival.Journal of the National Cancer Institute · 2010Pooled it
- The ZZ domain of HERC2 is a receptor of arginylated substrates.Scientific reports · 2022Article
- ASPM promotes homologous recombination-mediated DNA repair by safeguarding BRCA1 stability.iScience · 2021Article
- HERCing: Structural and Functional Relevance of the Large HERC Ubiquitin Ligases.Frontiers in physiology · 2019Review
- Differences in bone structure and unloading-induced bone loss between C57BL/6N and C57BL/6J mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Article
- The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination.Oncotarget · 2016Article
- Functional and pathological relevance of HERC family proteins: a decade later.Cellular and molecular life sciences : CMLS · 2016Review
- A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.European journal of human genetics : EJHG · 2016Article
- Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.European journal of human genetics : EJHG · 2016Article
- Genetic analysis of litter size in mice.The Journal of veterinary medical science · 2015Article
- Degradation of the deubiquitinating enzyme USP33 is mediated by p97 and the ubiquitin ligase HERC2.The Journal of biological chemistry · 2014Article
- The E3 ubiquitin protein ligase HERC2 modulates the activity of tumor protein p53 by regulating its oligomerization.The Journal of biological chemistry · 2014Article
- Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.Molecular and cellular biology · 2012Article
- The neurobiology of mouse models syntenic to human chromosome 15q.Journal of neurodevelopmental disorders · 2011Article
- Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2.The Journal of biological chemistry · 2011Article
- Circadian control of XPA and excision repair of cisplatin-DNA damage by cryptochrome and HERC2 ubiquitin ligase.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Predicting phenotype from genotype: normal pigmentation.Journal of forensic sciences · 2010Article
- HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes.Nature cell biology · 2010Article
- Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase.PLoS genetics · 2009Article
- Physiological functions of the HECT family of ubiquitin ligases.Nature reviews. Molecular cell biology · 2009Review
Corrections and comments
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12 authors.
Funding
Abstract
Three radiation-induced alleles of the mouse p locus, p6H, p25H, and pbs, cause defects in growth, coordination, fertility, and maternal behavior in addition to p gene-related hypopigmentation. These alleles are associated with disruption of the p gene plus an adjacent gene involved in the disorders listed. We have identified this adjacent gene, previously named rjs (runty jerky sterile), by positional cloning. The rjs cDNA is very large, covering 15,264 nucleotides. The predicted rjs-encoded protein (4,836 amino acids) contains several sequence motifs, including three RCC1 repeats, a structural motif in common with cytochrome b5, and a HECT domain in common with E6-AP ubiquitin ligase. On the basis of sequence homology and conserved synteny, the rjs gene is the single mouse homolog of a previously described five- or six-member human gene family. This family is represented by at least two genes, HSC7541 and KIAA0393, from human chromosome 15q11-q13. HSC7541 and KIAA0393 lie close to, or within, a region commonly deleted in most Prader-Willi syndrome patients. Previous work has suggested that the multiple phenotypes in rjs mice might be due to a common neuroendocrine defect. In addition to this proposed mode of action, alternative functions of the rjs gene are evaluated in light of its known protein homologies.
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