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Fancd2 |
Protein FULL name:
Fanconi anemia, complementation group D2 [Mus musculus].
Fancd2 (Mus musculus) is product of expression of Fancd2 gene.
FUNCTION: Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.
SUBUNIT: Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1, BRCA2 and BLM (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity). Note=Concentrates in nuclear foci during S phase and upon genotoxic stress (By similarity).
PTM: Monoubiquitinated on Lys-559 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex, RPA1 and ATR, and is mediated by FANCL/PHF9. Ubiquitination is required for binding to chromatin, interaction with BRCA1 and BRCA2, DNA repair, and normal cell cycle progression (By similarity).
PTM: Phosphorylated on several sites including Ser-220 and Ser- 1399 in response to genotoxic stress (By similarity).
DISRUPTION PHENOTYPE: Mice display delayed pre- and postnatal development, defects in germ-cell development, and increase incidence of microphthalmia and tumors of epithelial cell origin.
| NCBI GenPept GI number(s): |
83776592 |
| Species: | Mus musculus |
Links to other databases:
| Database | ID | Link |
| Uniprot | Q80V62 |
Q80V62 |
| PFAM: | - |
Q80V62 (Link - using uniprot id) |
| InterPro: | - |
Q80V62 (Link - using uniprot id) |
| CATH: | - | - |
| SCOP: | - | - |
| PDB: | - | - |
Protein sequence:
|
MISKRRRLDSEDKENLTEDASKTMPLSKLAKKSHNSHEVEENGSVFVKLL KASGLTLKTGENQNQLGVDQVIFQRKLFQALRKHPAYPKVIEEFVNGLES YTEDSESLRNCLLSCERLQDEEASMGTFYSKSLIKLLLGIDILQPAIIKM LFEKVPQFLFESENRDGINMARLIINQLKWLDRIVDGKDLTAQMMQLISV APVNLQHDFITSLPEILGDSQHANVGKELGELLVQNTSLTVPILDVFSSL RLDPNFLSKIRQLVMGKLSSVRLEDFPVFVKFLLHSVTDTTSLEVIAELR ENLNVQQFILPSRIQASQSKLKSKGLASSSGNQENSDKDCIVLVFDVIKS AIRYEKTISEAWFKAIERIESAAEHKALDVVMLLIIYSTSTQTKKGVEKL LRNKIQSDCIQEQLLDSAFSTHYLVLKDICPSILLLAQTLFHSQDQRIIL FGSLLYKYAFKFFDTYCQQEVVGALVTHVCSGTEAEVDTALDVLLELIVL NASAMRLNAAFVKGILDYLENMSPQQIRKIFCILSTLAFSQQPGTSNHIQ DDMHLVIRKQLSSTVFKYKLIGIIGAVTMAGIMAEDRSVPSNSSQRSANV SSEQRTQVTSLLQLVHSCTEHSPWASSLYYDEFANLIQERKLAPKTLEWV GQTIFNDFQDAFVVDFCAAPEGDFPFPVKALYGLEEYSTQDGIVINLLPL FYQECAKDASRATSQESSQRSMSSLCLASHFRLLRLCVARQHDGNLDEID GLLDCPLFLPDLEPGEKLESMSAKDRSLMCSLTFLTFNWFREVVNAFCQQ TSPEMKGKVLSRLKDLVELQGILEKYLAVIPDYVPPFASVDLDTLDMMPR SSSAVAAKNRNKGKTGGKKQKADSNKASCSDTLLTEDTSECDMAPSGRSH VDKESTGKEGKTFVSLQNYRAFFRELDIEVFSILHSGLVTKFILDTEMHT EATEVVQLGPAELLFLLEDLSQKLENMLTAPFAKRICCFKNKGRQNIGFS HLHQRSVQDIVHCVVQLLTPMCNHLENIHNFFQCLGAEHLSADDKARATA QEQHTMACCYQKLLQVLHALFAWKGFTHQSKHRLLHSALEVLSNRLKQME QDQPLEELVSQSFSYLQNFHHSVPSFQCGLYLLRLLMALLEKSAVPNQKK EKLASLAKQLLCRAWPHGEKEKNPTFNDHLHDVLYIYLEHTDNVLKAIEE ITGVGVPELVSAPKDAASSTFPTLTRHTFVIFFRVMMAELEKTVKGLQAG TAADSQQVHEEKLLYWNMAVRDFSILLNLMKVFDSYPVLHVCLKYGRRFV EAFLKQCMPLLDFSFRKHREDVLSLLQTLQLNTRLLHHLCGHSKIRQDTR LTKHVPLLKKSLELLVCRVKAMLVLNNCREAFWLGTLKNRDLQGEEIISQ DPSSSESNAEDSEDGVTSHVSRNRATEDGEDEASDEQKDQDSDESDDSSS |
Fancd2 (Mus musculus) belongs to following protein families:
References:
| Title | Authors | Journal |
| Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. | Houghtaling S, Timmers C, Noll M, Finegold MJ, Jones SN, Meyn MS, Grompe M | Genes Dev Aug. 15, 2003 |
| The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J | Genome Res Oct. 1, 2004 |
| The transcriptional landscape of the mammalian genome. | Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schonbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y, Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K, Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y | Science Sept. 2, 2005 |
Last modification of this entry: Oct. 6, 2010.
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