HUWE1

HUWE1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EKK, 3G1N, 3H1D, 2MUL
Identifiers
Aliases	HUWE1 , ARF-BP1, HECTH9, HSPC272, Ib772, LASU1, MULE, URE-B1, UREB1, HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase, HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1, MRXST
External IDs	OMIM: 300697; MGI: 1926884; HomoloGene: 45994; GeneCards: HUWE1; OMA:HUWE1 - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band Xp11.22 Start 53,532,096 bp [1] End 53,686,728 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X F3 Start 151,800,807 bp [2] End 151,935,417 bp [2]
RNA expression pattern Bgee 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 More reference expression data
Gene ontology Molecular function DNA binding protein binding ubiquitin-protein transferase activity RNA binding transferase activity ubiquitin protein ligase activity Cellular component cytoplasm extracellular exosome membrane nucleoplasm extracellular region cytosol secretory granule lumen ficolin-1-rich granule lumen nucleus Biological process cellular response to DNA damage stimulus cell differentiation protein monoubiquitination histone ubiquitination DNA repair protein ubiquitination base-excision repair positive regulation of protein targeting to mitochondrion protein polyubiquitination neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10075 59026 Ensembl ENSG00000086758 ENSMUSG00000025261 UniProt Q7Z6Z7 Q7TMY8 RefSeq (mRNA) NM_031407 NM_021523 RefSeq (protein) NP_113584 NP_067498 Location (UCSC) Chr X: 53.53 – 53.69 Mb Chr X: 151.8 – 151.94 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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] Additional research suggests HUWE1 has implications in cancer research.

References

1. GRCh38: Ensembl release 89: ENSG00000086758 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025261 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: HUWE1 HECT, UBA and WWE domain containing 1".
8. 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.

Further reading

• 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.

External links

• HUWE1 human gene location in the UCSC Genome Browser .
• International HUWE1 Community: www.huwe1.org
• Community Italiana Huwe1 https://huwe1italia.wordpress.com/
• Louie's HUWE - a US 501c3 nonprofit to support people with HUWE1-related genetic conditions: www.huwe1.org/louieshuwe
• HUWE1 human gene details in the UCSC Genome Browser .