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BAP1

bap1 mesothelioma, bap1 cancer syndrome
NM_004656

NM_027088

RefSeq protein

NP_004647

NP_081364

Location UCSC Chr 3: 524 – 5241 Mb Chr 14: 3125 – 3126 Mb PubMed search 1 2 Wikidata
Bap1 knockout mouse phenotype
Characteristic Phenotype
All data available at2126
Peripheral blood leukocytes 6 Weeks Normal
Insulin Normal
Haematology 6 Weeks Normal
Homozygous viability at P14 Abnormal
Recessive lethal study Abnormal
Body weight Normal
Neurological assessment Normal
Grip strength Normal
Dysmorphology Normal
Indirect calorimetry Normal
Glucose tolerance test Normal
Auditory brainstem response Normal
DEXA Normal
Radiography Normal
Eye morphology Normal
Clinical chemistry Normal
Haematology 16 Weeks Normal
Peripheral blood leukocytes 16 Weeks Normal
Heart weight Normal
Salmonella infection Normal
Cytotoxic T Cell Function Normal
Spleen Immunophenotyping Normal
Mesenteric Lymph Node Immunophenotyping Normal
Bone Marrow Immunophenotyping Normal
Epidermal Immune Composition Normal
Influenza Challenge Normal
Trichuris Challenge Normal

Referencesedit

  1. ^ "Human PubMed Reference:" 
  2. ^ "Mouse PubMed Reference:" 
  3. ^ a b c d 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 Mar 1998 "BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression" Oncogene 16 9: 1097–112 PMID 9528852 doi:101038/sjonc1201861 
  4. ^ "Entrez Gene: BAP1 BRCA1 associated protein-1 ubiquitin carboxy-terminal hydrolase" 
  5. ^ Gaytán de Ayala Alonso A, Gutiérrez L, Fritsch C, Papp B, Beuchle D, Müller J Aug 2007 "A genetic screen identifies novel polycomb group genes in Drosophila" Genetics 176 4: 2099–108 PMC 1950617  PMID 17717194 doi:101534/genetics107075739 
  6. ^ a b c Scheuermann JC, de Ayala Alonso AG, Oktaba K, Ly-Hartig N, McGinty RK, Fraterman S, Wilm M, Muir TW, Müller J May 2010 "Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB" Nature 465 7295: 243–7 PMC 3182123  PMID 20436459 doi:101038/nature08966 
  7. ^ a b c d e f g h i j k l m n o p q r s t u Sowa ME, Bennett EJ, Gygi SP, Harper JW Jul 2009 "Defining the human deubiquitinating enzyme interaction landscape" Cell 138 2: 389–403 PMC 2716422  PMID 19615732 doi:101016/jcell200904042 
  8. ^ a b c d e f g h i j Machida YJ, Machida Y, Vashisht AA, Wohlschlegel JA, Dutta A Dec 2009 "The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1" The Journal of Biological Chemistry 284 49: 34179–88 PMC 2797188  PMID 19815555 doi:101074/jbcM109046755 
  9. ^ Misaghi S, Ottosen S, Izrael-Tomasevic A, Arnott D, Lamkanfi M, Lee J, Liu J, O'Rourke K, Dixit VM, Wilson AC Apr 2009 "Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1" Molecular and Cellular Biology 29 8: 2181–92 PMC 2663315  PMID 19188440 doi:101128/MCB01517-08 
  10. ^ Yu H, Mashtalir N, Daou S, Hammond-Martel I, Ross J, Sui G, Hart GW, Rauscher FJ, Drobetsky E, Milot E, Shi Y, Affar el B Nov 2010 "The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression" Molecular and Cellular Biology 30 21: 5071–85 PMC 2953049  PMID 20805357 doi:101128/MCB00396-10 
  11. ^ Ventii KH, Devi NS, Friedrich KL, Chernova TA, Tighiouart M, Van Meir EG, Wilkinson KD Sep 2008 "BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization" Cancer Research 68 17: 6953–62 PMC 2736608  PMID 18757409 doi:101158/0008-5472CAN-08-0365 
  12. ^ Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM Dec 2010 "Frequent mutation of BAP1 in metastasizing uveal melanomas" Science 330 6009: 1410–3 PMC 3087380  PMID 21051595 doi:101126/science1194472 
  13. ^ Bott M, Brevet M, Taylor BS, Shimizu S, Ito T, Wang L, Creaney J, Lake RA, Zakowski MF, Reva B, Sander C, Delsite R, Powell S, Zhou Q, Shen R, Olshen A, Rusch V, Ladanyi M Jul 2011 "The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p211 losses in malignant pleural mesothelioma" Nature Genetics 43 7: 668–72 PMID 21642991 doi:101038/ng855 
  14. ^ Peña-Llopis S, Vega-Rubín-de-Celis S, Liao A, Leng N, Pavía-Jiménez 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 Jul 2012 "BAP1 loss defines a new class of renal cell carcinoma" Nature Genetics 44 7: 751–9 PMC 3788680  PMID 22683710 doi:101038/ng2323 
  15. ^ Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, Carbone M Oct 2011 "Germline BAP1 mutations predispose to malignant mesothelioma" Nature Genetics 43 10: 1022–5 PMC 3184199  PMID 21874000 doi:101038/ng912 
  16. ^ Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C, Wackernagel W, Loy S, Wolf I, Viale A, Lash AE, Pirun M, Socci ND, Rütten A, Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, Bastian BC, Speicher MR Oct 2011 "Germline mutations in BAP1 predispose to melanocytic tumors" Nature Genetics 43 10: 1018–21 PMC 3328403  PMID 21874003 doi:101038/ng910 
  17. ^ Heydrich CE, Schneider KA, Rana Q 2015 "When to Consider Referral to a Genetic Counselor for Lesser Known Cancer Syndromes" Contemporary Oncology 7 1: 26–32 
  18. ^ Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, Hovland P, Davidorf FH Dec 2011 "Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers" Journal of Medical Genetics 48 12: 856–9 PMID 21941004 doi:101136/jmedgenet-2011-100156 
  19. ^ Kapur P, Christie A, Raman JD, Then MT, Nuhn P, Buchner A, Bastian P, Seitz C, Shariat SF, Bensalah K, Rioux-Leclercq N, Xie XJ, Lotan Y, Margulis V, Brugarolas J Mar 2014 "BAP1 immunohistochemistry predicts outcomes in a multi-institutional cohort with clear cell renal cell carcinoma" The Journal of Urology 191 3: 603–10 PMID 24076305 doi:101016/jjuro201309041 
  20. ^ Gerdin AK 2010 "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice" Acta Ophthalmologica 88: 925–7 doi:101111/j1755-376820104142x 
  21. ^ a b "International Mouse Phenotyping Consortium" 
  22. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A Jun 2011 "A conditional knockout resource for the genome-wide study of mouse gene function" Nature 474 7351: 337–42 PMC 3572410  PMID 21677750 doi:101038/nature10163 
  23. ^ Dolgin E Jun 2011 "Mouse library set to be knockout" Nature 474 7351: 262–3 PMID 21677718 doi:101038/474262a 
  24. ^ Collins FS, Rossant J, Wurst W Jan 2007 "A mouse for all reasons" Cell 128 1: 9–13 PMID 17218247 doi:101016/jcell200612018 
  25. ^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP 2013 "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes" Cell 154 2: 452–64 PMC 3717207  PMID 23870131 doi:101016/jcell201306022 
  26. ^ a b "Infection and Immunity Immunophenotyping 3i Consortium" 
  27. ^ "OBCD Consortium" 

External linksedit

  • Human BAP1 genome location and BAP1 gene details page in the UCSC Genome Browser

Further readingedit

  • Harbour JW Mar 2012 "The genetics of uveal melanoma: an emerging framework for targeted therapy" Pigment Cell & Melanoma Research 25 2: 171–81 PMID 22268848 doi:101111/j1755-148X201200979x 
  • Carbone M, Yang H Feb 2012 "Molecular pathways: targeting mechanisms of asbestos and erionite carcinogenesis in mesothelioma" Clinical Cancer Research 18 3: 598–604 PMID 22065079 doi:101158/1078-0432CCR-11-2259 
  • Landreville S, Agapova OA, Matatall KA, Kneass ZT, Onken MD, Lee RS, Bowcock AM, Harbour JW Jan 2012 "Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma" Clinical Cancer Research 18 2: 408–16 PMC 3261307  PMID 22038994 doi:101158/1078-0432CCR-11-0946 
  • Goldstein AM Oct 2011 "Germline BAP1 mutations and tumor susceptibility" Nature Genetics 43 10: 925–6 PMID 21956388 doi:101038/ng956 
  • Materin MA, Faries M, Kluger HM 2011 "Molecular alternations in uveal melanoma" Current Problems in Cancer 35 4: 211–24 PMID 21911184 doi:101016/jcurrproblcancer201107004 
  • Zhou ZR, Zhang YH, Liu S, Song AX, Hu HY Jan 2012 "Length of the active-site crossover loop defines the substrate specificity of ubiquitin C-terminal hydrolases for ubiquitin chains" The Biochemical Journal 441 1: 143–9 PMID 21851340 doi:101042/BJ20110699 
  • Eletr ZM, Wilkinson KD Jun 2011 "An emerging model for BAP1's role in regulating cell cycle progression" Cell Biochemistry and Biophysics 60 1–2: 3–11 PMC 3128820  PMID 21484256 doi:101007/s12013-011-9184-6 
  • Patel M, Smyth E, Chapman PB, Wolchok JD, Schwartz GK, Abramson DH, Carvajal RD Apr 2011 "Therapeutic implications of the emerging molecular biology of uveal melanoma" Clinical Cancer Research 17 8: 2087–100 PMID 21444680 doi:101158/1078-0432CCR-10-3169 
  • Gieni RS, Ismail IH, Campbell S, Hendzel MJ Mar 2011 "Polycomb group proteins in the DNA damage response: a link between radiation resistance and "stemness"" Cell Cycle 10 6: 883–94 PMID 21346409 doi:104161/cc10614907 
  • Ismail IH, Andrin C, McDonald D, Hendzel MJ Oct 2010 "BMI1-mediated histone ubiquitylation promotes DNA double-strand break repair" The Journal of Cell Biology 191 1: 45–60 PMC 2953429  PMID 20921134 doi:101083/jcb201003034 
  • Nishikawa H, Wu W, Koike A, Kojima R, Gomi H, Fukuda M, Ohta T Jan 2009 "BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity" Cancer Research 69 1: 111–9 PMID 19117993 doi:101158/0008-5472CAN-08-3355 
  • Jensen DE, Rauscher FJ Sep 1999 "Defining biochemical functions for the BRCA1 tumor suppressor protein: analysis of the BRCA1 binding protein BAP1" Cancer Letters 143 Suppl 1: S13–7 PMID 10546591 doi:101016/s0304-38359990004-6 

bap1 antibody, bap1 cancer syndrome, bap1 gene, bap1 immunohistochemistry, bap1 melanoma, bap1 mesothelioma, bap1 mutation, bap1 nuclear mechanism, bap1 pathway, bap1 spitz tumor


BAP1 Information about

BAP1


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    29.10.2014


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