Protein-coding gene in the species Homo sapiens
HUWE1 Identifiers Aliases HUWE1 External IDs OMIM : 300697 ; MGI : 1926884 ; HomoloGene : 45994 ; GeneCards : HUWE1 ; OMA :HUWE1 - orthologs RNA expression patternBgee Human Mouse (ortholog)Top expressed in skin of leg skin of abdomen right lobe of thyroid gland anterior pituitary right ovary left lobe of thyroid gland left ovary ganglionic eminence right hemisphere of cerebellum ectocervix
Top expressed in tail of embryo genital tubercle neural layer of retina ventricular zone entorhinal cortex suprachiasmatic nucleus dentate gyrus of hippocampal formation granule cell epiblast substantia nigra perirhinal cortex
More reference expression data
BioGPS
Wikidata
E3 ubiquitin-protein ligase HUWE1 is an enzyme that in humans is encoded by the HUWE1 gene .[ 5] [ 6] [ 7]
It performs the third step (ligation) in binding ubiquitin to proteins in a process called ubiquitination which tags the proteins for disposal.
Human genetic studies that implicate HUWE1 in intellectual disability .[ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000086758 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025261 – 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 .^ Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, et al. (April 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro" . DNA Research . 4 (2): 141–50. doi :10.1093/dnares/4.2.141 PMID 9205841 . ^ Jackson PK, Eldridge AG, Freed E, Furstenthal L, Hsu JY, Kaiser BK, Reimann JD (October 2000). "The lore of the RINGs: substrate recognition and catalysis by ubiquitin ligases". Trends in Cell Biology . 10 (10): 429–39. doi :10.1016/S0962-8924(00)01834-1 . PMID 10998601 . ^ "Entrez Gene: HUWE1 HECT, UBA and WWE domain containing 1" .^ Giles AC, Grill B (April 2020). "Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease" . review. Neural Development . 15 (1): 6. doi :10.1186/s13064-020-00143-9 PMC 7184716 PMID 32336296 . Gu J, Dubner R, Fornace AJ, Iadarola MJ (November 1995). "UREB1, a tyrosine phosphorylated nuclear protein, inhibits p53 transactivation". Oncogene . 11 (10): 2175–8. PMID 7478539 . Gu J, Ren K, Dubner R, Iadarola MJ (July 1994). "Cloning of a DNA binding protein that is a tyrosine kinase substrate and recognizes an upstream initiator-like sequence in the promoter of the preprodynorphin gene" . Brain Research. Molecular Brain Research . 24 (1–4): 77–88. doi :10.1016/0169-328X(94)90120-1 . PMID 7968380 . Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene . 138 (1–2): 171–4. doi :10.1016/0378-1119(94)90802-8 . PMID 8125298 . Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene . 200 (1–2): 149–56. doi :10.1016/S0378-1119(97)00411-3 . PMID 9373149 . Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (August 2000). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro" . DNA Research . 7 (4): 273–81. doi :10.1093/dnares/7.4.271 PMID 10997877 . Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, et al. (October 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells" . Genome Research . 10 (10): 1546–60. doi :10.1101/gr.140200 . PMC 310934 PMID 11042152 . Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins" . Proceedings of the National Academy of Sciences of the United States of America . 101 (33): 12130–5. Bibcode :2004PNAS..10112130B . doi :10.1073/pnas.0404720101 PMC 514446 PMID 15302935 . Yoon SY, Lee Y, Kim JH, Chung AS, Joo JH, Kim CN, et al. (January 2005). "Over-expression of human UREB1 in colorectal cancer: HECT domain of human UREB1 inhibits the activity of tumor suppressor p53 protein". Biochemical and Biophysical Research Communications . 326 (1): 7–17. doi :10.1016/j.bbrc.2004.11.004 . PMID 15567145 . Liu Z, Oughtred R, Wing SS (April 2005). "Characterization of E3Histone, a novel testis ubiquitin protein ligase which ubiquitinates histones" . Molecular and Cellular Biology . 25 (7): 2819–31. doi :10.1128/MCB.25.7.2819-2831.2005 . PMC 1061639 PMID 15767685 . Chen D, Kon N, Li M, Zhang W, Qin J, Gu W (July 2005). "ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor" . Cell . 121 (7): 1071–83. doi :10.1016/j.cell.2005.03.037 PMID 15989956 . S2CID 16176749 . Zhong Q, Gao W, Du F, Wang X (July 2005). "Mule/ARF-BP1, a BH3-only E3 ubiquitin ligase, catalyzes the polyubiquitination of Mcl-1 and regulates apoptosis" . Cell . 121 (7): 1085–95. doi :10.1016/j.cell.2005.06.009 PMID 15989957 . S2CID 16656949 . Warr MR, Acoca S, Liu Z, Germain M, Watson M, Blanchette M, et al. (October 2005). "BH3-ligand regulates access of MCL-1 to its E3 ligase" . FEBS Letters . 579 (25): 5603–8. doi :10.1016/j.febslet.2005.09.028 PMID 16213503 . S2CID 4981009 . Adhikary S, Marinoni F, Hock A, Hulleman E, Popov N, Beier R, et al. (November 2005). "The ubiquitin ligase HectH9 regulates transcriptional activation by Myc and is essential for tumor cell proliferation" . Cell . 123 (3): 409–21. doi :10.1016/j.cell.2005.08.016 PMID 16269333 . S2CID 15338406 . 
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