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FANCG |
Protein FULL name:
Fanconi anemia group G protein [Homo sapiens].
Protein SHORT name:
FANCG, FANC-G, XRCC9, XRCC-9
FANCG (Homo sapiens) is product of expression of FANCG gene.
Human diseases related to this protein:
FANCG is involved in:
HRR in Homo sapiens
Keywords:
FUNCTION: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.
SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients.
INTERACTION: Q8N6Y0:USHBP1; NbExp=2; IntAct=EBI-81610, EBI-739895; O96006:ZBED1; NbExp=2; IntAct=EBI-81610, EBI-740037;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
TISSUE SPECIFICITY: Highly expressed in testis and thymus. Found in lymphoblasts.
DISEASE: Defects in FANCG are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.
SIMILARITY: Contains 4 TPR repeats.
WEB RESOURCE: Name=Fanconi Anemia Mutation Database; [LINK]
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]
WEB RESOURCE: Name=GeneReviews; [LINK]
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
| NCBI GenPept GI number(s): |
4759336 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | O15287 |
O15287 |
| PFAM: | - |
O15287 (Link - using uniprot id) |
| InterPro: | - |
O15287 (Link - using uniprot id) |
| CATH: | - | - |
| SCOP: | - | - |
| PDB: | - | - |
Protein sequence:
|
MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGL RGLLHSLQGLPAAVPVLPLELTVTCNFIILRASLAQGFTEDQAQDIQRSL ERVLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHRLVGLQAALW LSADRLGDLALLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDA QGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLCPRPVLVQVYT ALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAEL ESLELLVEALNVPCSSKAPQFLIEVELLLPPPDLASPLHCGTQSQTKHIL ASRCLQTGRAGDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEA AVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPL WVSATHLLQGQAWVQLGAQKVAISEFSRCLELLFRATPEEKEQGAAFNCE QGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLSVQMCPGNRDT YFHLLQTLKRLDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWI RPSDRDAFLEEFRTSLPKSCDL |
FANCG (Homo sapiens) is able to recognize following damages:
FANCG (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells. | Liu N, Lamerdin JE, Tucker JD, Zhou ZQ, Walter CA, Albala JS, Busch DB, Thompson LH | Proc Natl Acad Sci U S A Aug. 19, 1997 |
| The Fanconi anaemia group G gene FANCG is identical with XRCC9. | de Winter JP, Waisfisz Q, Rooimans MA, van Berkel CG, Bosnoyan-Collins L, Alon N, Carreau M, Bender O, Demuth I, Schindler D, Pronk JC, Arwert F, Hoehn H, Digweed M, Buchwald M, Joenje H | Nat Genet Nov. 1, 1998 |
| Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. | Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D'Andrea AD | Mol Cell Biol July 1, 1999 |
| Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. | Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Grasl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M | Eur J Hum Genet Nov. 1, 2000 |
| A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. | Meetei AR, Sechi S, Wallisch M, Yang D, Young MK, Joenje H, Hoatlin ME, Wang W | Mol Cell Biol May 1, 2003 |
| DNA sequence and analysis of human chromosome 9. | Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I | Nature May 27, 2004 |
| 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 |
| X-linked inheritance of Fanconi anemia complementation group B. | Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H | Nat Genet Nov. 1, 2004 |
| A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. | Meetei AR, Medhurst AL, Ling C, Xue Y, Singh TR, Bier P, Steltenpool J, Stone S, Dokal I, Mathew CG, Hoatlin M, Joenje H, de Winter JP, Wang W | Nat Genet Sept. 1, 2005 |
| The consensus coding sequences of human breast and colorectal cancers. | Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE | Science Oct. 13, 2006 |
Last modification of this entry: Oct. 12, 2010.
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