BRCA1 associated deubiquitinase 1
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L BAP1 gene provides instructions for making a protein called ubiquitin carboxyl-terminal hydrolase BAP1 (shortened to BAP1). This protein functions as a deubiquitinase, which means it removes a molecule called ubiquitin from certain proteins. The presence of ubiquitin molecules on a protein can affect the activity of the protein and its interactions with other proteins. The ubiquitin "tag" also promotes breakdown (degradation) of a protein. By removing ubiquitin, BAP1 helps regulate the function of many proteins involved in diverse cellular processes. The BAP1 protein is thought to help control cell growth and division (proliferation) and cell death. Studies suggest that it is involved in the progression of cells through the step-by-step process they take to replicate themselves (called the cell cycle) and that it plays roles in repairing damaged DNA and controlling the activity of genes.
Normal function
L BAP1 gene provides instructions for making a protein called ubiquitin carboxyl-terminal hydrolase BAP1 (shortened to BAP1). This protein functions as a deubiquitinase, which means it removes a molecule called ubiquitin from certain proteins. The presence of ubiquitin molecules on a protein can affect the activity of the protein and its interactions with other proteins. The ubiquitin "tag" also promotes breakdown (degradation) of a protein. By removing ubiquitin, BAP1 helps regulate the function of many proteins involved in diverse cellular processes. The BAP1 protein is thought to help control cell growth and division (proliferation) and cell death. Studies suggest that it is involved in the progression of cells through the step-by-step process they take to replicate themselves (called the cell cycle) and that it plays roles in repairing damaged DNA and controlling the activity of genes.
Although the exact mechanism is unclear, the BAP1 protein acts as a tumour suppressor. Tumour suppressor proteins help prevent cells from growing and dividing too rapidly or in an uncontrolled way.
Conditions referring to this gene or chromosome
Altri nomi
BRCA1 associated protein 1
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
HUCEP-13
hucep-6
KIAA0272
KURIS
TPDS1
UBM2
UCHL2
UVM2
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Fatti e fattori di rischio del cancro al seno
If you h... Some facts about breast cancer Breast cancer is one of the most common cancers in the world. In the UK about 1 in 8 women develop breast cancer at some stage of their lives. The fault is also called a mutation. When they are faulty, they are particularly associated with cancro al seno. These are the BRCA1, the BRCA2 and the TP53 gene.
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Test genetici
Note : the information below is a general guide only. Predictive testing Predictive testing is used to detect genetic mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder but who have no features of the disorder themselves at the time.
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Cancro al seno
Excess alcohol. Family history and genetic testing About 1 in 20 cases of breast cancer are caused by a faulty gene which can be inherited. The genes BRCA1 e BRCA2 are the most common faulty genes. Diagnosing breast cancer Initial assessment If you develop a lump or symptoms which may be breast cancer, a doctor will usually examine your breasts.
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Impianto contraccettivo
You have an incr... You have previously had a deep vein thrombosis or pulmonary embolism. You have migraines. You have systemic lupus erythematosus. You have gene mutations associated with breast cancer - for example, BRCA1. You have cervical cancer. You have experienced a stroke , angina or heart attack. You have several risk factors for heart.
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Geni BRCA
There are a few known gene changes (mutations) that can increase the rischio of certain cancers, and tests available for some of them, including BRCA1 and BRCA2 gene mutations. The BRCA1 and BRCA2 genes normally protect against certain cancers, particularly breast cancer and ovarian cancer. See also the separate leaflet on Genetic Te... BRCA1 (BReast.
Ulteriori letture e riferimenti
- BRCA1 associated deubiquitinase 1; MedlinePlus, National Library of Medicine.
- Alakus H, Yost SE, Woo B, French R, Lin GY, Jepsen K, Frazer KA, Lowy AM, Harismendy O. BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma. J Transl Med. 2015 Apr 16;13:122. doi: 10.1186/s12967-015-0485-1.
- Daou S, Hammond-Martel I, Mashtalir N, Barbour H, Gagnon J, Iannantuono NV, Nkwe NS, Motorina A, Pak H, Yu H, Wurtele H, Milot E, Mallette FA, Carbone M, Affar el B. The BAP1/ASXL2 Histone H2A Deubiquitinase Complex Regulates Cell Proliferation and Is Disrupted in Cancer. J Biol Chem. 2015 Nov 27;290(48):28643-63. doi: 10.1074/jbc.M115.661553. Epub 2015 Sep 28.
- Eletr ZM, Wilkinson KD. An emerging model for BAP1's role in regulating cell cycle progression. Cell Biochem Biophys. 2011 Jun;60(1-2):3-11. doi: 10.1007/s12013-011-9184-6.
- Jensen DE, Proctor M, Marquis ST, Gardner HP, Ha SI, Chodosh LA, Ishov AM, Tommerup N, Vissing H, Sekido Y, Minna J, Borodovsky A, Schultz DC, Wilkinson KD, Maul GG, Barlev N, Berger SL, Prendergast GC, Rauscher FJ 3rd. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene. 1998 Mar 5;16(9):1097-112. doi: 10.1038/sj.onc.1201861.
- Kumar R, Taylor M, Miao B, Ji Z, Njauw JC, Jonsson G, Frederick DT, Tsao H. BAP1 has a survival role in cutaneous melanoma. J Invest Dermatol. 2015 Apr;135(4):1089-1097. doi: 10.1038/jid.2014.528. Epub 2014 Dec 18.
- Matatall KA, Agapova OA, Onken MD, Worley LA, Bowcock AM, Harbour JW. BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma. BMC Cancer. 2013 Aug 5;13:371. doi: 10.1186/1471-2407-13-371.
- Pena-Llopis S, Vega-Rubin-de-Celis S, Liao A, Leng N, Pavia-Jimenez A, Wang S, Yamasaki T, Zhrebker L, Sivanand S, Spence P, Kinch L, Hambuch T, Jain S, Lotan Y, Margulis V, Sagalowsky AI, Summerour PB, Kabbani W, Wong SW, Grishin N, Laurent M, Xie XJ, Haudenschild CD, Ross MT, Bentley DR, Kapur P, Brugarolas J. BAP1 loss defines a new class of renal cell carcinoma. Nat Genet. 2012 Jun 10;44(7):751-9. doi: 10.1038/ng.2323.
- Royer-Bertrand B, Torsello M, Rimoldi D, El Zaoui I, Cisarova K, Pescini-Gobert R, Raynaud F, Zografos L, Schalenbourg A, Speiser D, Nicolas M, Vallat L, Klein R, Leyvraz S, Ciriello G, Riggi N, Moulin AP, Rivolta C. Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing. Am J Hum Genet. 2016 Nov 3;99(5):1190-1198. doi: 10.1016/j.ajhg.2016.09.008. Epub 2016 Oct 13.
- Ventii KH, Devi NS, Friedrich KL, Chernova TA, Tighiouart M, Van Meir EG, Wilkinson KD. BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res. 2008 Sep 1;68(17):6953-62. doi: 10.1158/0008-5472.CAN-08-0365.
- Yu H, Pak H, Hammond-Martel I, Ghram M, Rodrigue A, Daou S, Barbour H, Corbeil L, Hebert J, Drobetsky E, Masson JY, Di Noia JM, Affar el B. Tumor suppressor and deubiquitinase BAP1 promotes DNA double-strand break repair. Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):285-90. doi: 10.1073/pnas.1309085110. Epub 2013 Dec 17.
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