// Workers AI · dad joke modeWhat did UBR5 say to its date? You're a gene-ius match.
E3 ubiquitin-protein ligase UBR5 is an enzyme that in humans is encoded by the UBR5 gene.[5][6][7]
Function
[edit]This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation.[7]
Mutations in UBR5 have been associated with autism spectrum disorder.[8][9]
Interactions
[edit]UBR5 has been shown to interact with:
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000104517 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037487 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Callaghan MJ, Russell AJ, Woollatt E, Sutherland GR, Sutherland RL, Watts CK (December 1998). "Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs". Oncogene. 17 (26): 3479–3491. doi:10.1038/sj.onc.1202249. PMID 10030672. S2CID 19850921.
- ↑ Tasaki T, Mulder LC, Iwamatsu A, Lee MJ, Davydov IV, Varshavsky A, et al. (August 2005). "A family of mammalian E3 ubiquitin ligases that contain the UBR box motif and recognize N-degrons". Molecular and Cellular Biology. 25 (16): 7120–7136. doi:10.1128/MCB.25.16.7120-7136.2005. PMC 1190250. PMID 16055722.
- 1 2 "Entrez Gene: EDD1 E3 ubiquitin protein ligase, HECT domain containing, 1".
- ↑ Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, et al. (January 2025). "Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability". American Journal of Human Genetics. 112 (1): 75–86. doi:10.1016/j.ajhg.2024.11.009. PMC 11739880. PMID 39721588.
- ↑ Reuter MS, Salazar NB, Howe JL, Hoang N, Sarikaya E, Selvanayagam T, et al. (November 2025). "UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature". Npj Genomic Medicine. doi:10.1038/s41525-025-00536-x. hdl:10400.18/10782. PMID 41318701.
- 1 2 Henderson MJ, Russell AJ, Hird S, Muñoz M, Clancy JL, Lehrbach GM, et al. (July 2002). "EDD, the human hyperplastic discs protein, has a role in progesterone receptor coactivation and potential involvement in DNA damage response". The Journal of Biological Chemistry. 277 (29): 26468–26478. doi:10.1074/jbc.M203527200. hdl:1885/64590. PMID 12011095.
- ↑ Eblen ST, Kumar NV, Shah K, Henderson MJ, Watts CK, Shokat KM, et al. (April 2003). "Identification of novel ERK2 substrates through use of an engineered kinase and ATP analogs". The Journal of Biological Chemistry. 278 (17): 14926–14935. doi:10.1074/jbc.M300485200. PMID 12594221.
- ↑ Honda Y, Tojo M, Matsuzaki K, Anan T, Matsumoto M, Ando M, et al. (February 2002). "Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response". The Journal of Biological Chemistry. 277 (5): 3599–3605. doi:10.1074/jbc.M104347200. PMID 11714696.
Further reading
[edit]- Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
- Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, et al. (December 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 5 (6): 355–364. doi:10.1093/dnares/5.6.355. PMID 10048485.
- Deo RC, Sonenberg N, Burley SK (April 2001). "X-ray structure of the human hyperplastic discs protein: an ortholog of the C-terminal domain of poly(A)-binding protein". Proceedings of the National Academy of Sciences of the United States of America. 98 (8): 4414–4419. doi:10.1073/pnas.071552198. PMC 31849. PMID 11287654.
- Honda Y, Tojo M, Matsuzaki K, Anan T, Matsumoto M, Ando M, et al. (February 2002). "Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response". The Journal of Biological Chemistry. 277 (5): 3599–3605. doi:10.1074/jbc.M104347200. PMID 11714696.
- Henderson MJ, Russell AJ, Hird S, Muñoz M, Clancy JL, Lehrbach GM, et al. (July 2002). "EDD, the human hyperplastic discs protein, has a role in progesterone receptor coactivation and potential involvement in DNA damage response". The Journal of Biological Chemistry. 277 (29): 26468–26478. doi:10.1074/jbc.M203527200. hdl:1885/64590. PMID 12011095.
- Eblen ST, Kumar NV, Shah K, Henderson MJ, Watts CK, Shokat KM, et al. (April 2003). "Identification of novel ERK2 substrates through use of an engineered kinase and ATP analogs". The Journal of Biological Chemistry. 278 (17): 14926–14935. doi:10.1074/jbc.M300485200. PMID 12594221.
- Zhang C, Dowd DR, Staal A, Gu C, Lian JB, van Wijnen AJ, et al. (September 2003). "Nuclear coactivator-62 kDa/Ski-interacting protein is a nuclear matrix-associated coactivator that may couple vitamin D receptor-mediated transcription and RNA splicing". The Journal of Biological Chemistry. 278 (37): 35325–35336. doi:10.1074/jbc.M305191200. PMID 12840015.
- Clancy JL, Henderson MJ, Russell AJ, Anderson DW, Bova RJ, Campbell IG, et al. (August 2003). "EDD, the human orthologue of the hyperplastic discs tumour suppressor gene, is amplified and overexpressed in cancer". Oncogene. 22 (32): 5070–5081. doi:10.1038/sj.onc.1206775. PMID 12902990. S2CID 25909437.
- Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, et al. (July 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–1332. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, et al. (January 2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nature Biotechnology. 23 (1): 94–101. doi:10.1038/nbt1046. PMID 15592455. S2CID 7200157.
- Kim JE, Tannenbaum SR, White FM (2005). "Global phosphoproteome of HT-29 human colon adenocarcinoma cells". Journal of Proteome Research. 4 (4): 1339–1346. doi:10.1021/pr050048h. PMID 16083285.
- Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (April 2006). "Phosphoproteome analysis of the human mitotic spindle". Proceedings of the National Academy of Sciences of the United States of America. 103 (14): 5391–5396. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
- Henderson MJ, Munoz MA, Saunders DN, Clancy JL, Russell AJ, Williams B, et al. (December 2006). "EDD mediates DNA damage-induced activation of CHK2". The Journal of Biological Chemistry. 281 (52): 39990–40000. doi:10.1074/jbc.M602818200. PMID 17074762. S2CID 25298222.
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1) 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
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External links
[edit]- Ubr5 : Protein Overview : UCSD-Nature Molecule Pages Archived 2009-01-06 at the Wayback Machine
- Overview of all the structural information available in the PDB for UniProt: O95071 (E3 ubiquitin-protein ligase UBR5) at the PDBe-KB.
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