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FANCA |
Protein FULL name:
Fanconi anemia group A protein isoform a [Homo sapiens].
FANCA (Homo sapiens) is product of expression of FANCA gene.
Human diseases related to this protein:
FANCA is involved in:
DDS in Homo sapiens
Keywords:
FUNCTION: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.
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: P46108:CRK; NbExp=1; IntAct=EBI-81570, EBI-886; Q9NPI8:FANCF; NbExp=1; IntAct=EBI-81570, EBI-81589; P06241:FYN; NbExp=1; IntAct=EBI-81570, EBI-515315; P62993:GRB2; NbExp=1; IntAct=EBI-81570, EBI-401755; P16333:NCK1; NbExp=1; IntAct=EBI-81570, EBI-389883; P27986:PIK3R1; NbExp=1; IntAct=EBI-81570, EBI-79464; P19174:PLCG1; NbExp=1; IntAct=EBI-81570, EBI-79387; P12931:SRC; NbExp=1; IntAct=EBI-81570, EBI-621482;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A, B, C, E, F, G, and H.
DISEASE: Defects in FANCA 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.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]
WEB RESOURCE: Name=Fanconi Anemia Mutation Database; [LINK]
WEB RESOURCE: Name=GeneReviews; [LINK]
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
| NCBI GenPept GI number(s): |
66880553 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | O15360 |
O15360 |
| PFAM: | - |
O15360 (Link - using uniprot id) |
| InterPro: | - |
O15360 (Link - using uniprot id) |
| CATH: | None | |
| SCOP: | None | |
| PDB: | - | - |
Protein sequence:
|
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRL LRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHSSSFIGSALQD QASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLE FAQYLLAHSMFSRLSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLESH PDMHAVGSWLFRNLCCLCEQMEASCQHADVARAMLSDFVQMFVLRGFQKN SDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFG VFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVLKASDAVQMQREWSFAR THPLLTSLYRRLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCF PEAQQLLEDWVARLMAQAFESCQLDSMVTAFLVVRQAALEGPSAFLSYAD WFKASFGSTRGYHGCSKKALVFLFTFLSELVPFESPRYLQVHILHPPLVP GKYRSLLTDYISLAKTRLADLKVSIENMGLYEDLSSAGDITEPHSQALQD VEKAIMVFEHTGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSR VAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVRAEPNSAEEPL GQLTAALGELRASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEIS KIQLSINTPRLEPREHMAVDLLLTSFCQNLMAASSVAPPERQGPWAALFV RTMCGRVLPAVLTRLCQLLRHQGPSLSAPHVLGLAALAVHLGESRSALPE VDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAAISYSLCKFSS QSRDTLCSCLSPGLIKKFQFLMFRLFSEARQPLSEEDVASLSWRPLHLPS ADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTE RQDFHQWAIHEHFLPESSASGGCDGDLQAACTILVNALMDFHQSSRSYDH SENSDLVFGGRTGNEDIISRLQEMVADLELQQDLIVPLGHTPSQEHFLFE IFRRRLQALTSGWSVAASLQRQRELLMYKRILLRLPSSVLCGSSFQAEQP ITARCEQFFHLVNSEMRNFCSHGGALTQDITAHFFRGLLNACLRSRDPSL MVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKL QEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLD CEREELLVFLFFFSLMGLLSSHLTSNSTTDLPKAFHVCAAILECLEKRKI SWLALFQLTESDLRLGRLLLRVAPDQHTRLLPFAFYSLLSYFHEDAAIRE EAFLHVAVDMYLKLVQLFVAGDTSTVSPPAGRSLELKGQGNPVELITKAR LFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQQAAPDADLSQ EPHLF |
FANCA (Homo sapiens) is able to recognize following damages:
FANCA (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. | Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H | Nat Genet Nov. 1, 1996 |
| The genomic organization of the Fanconi anemia group A (FAA) gene. | Ianzano L, D'Apolito M, Centra M, Savino M, Levran O, Auerbach AD, Cleton-Jansen AM, Doggett NA, Pronk JC, Tipping AJ, Gibson RA, Mathew CG, Whitmore SA, Apostolou S, Callen DF, Zelante L, Savoia A | Genomics May 1, 1997 |
| Sequence variation in the Fanconi anemia gene FAA. | Levran O, Erlich T, Magdalena N, Gregory JJ, Batish SD, Verlander PC, Auerbach AD | Proc Natl Acad Sci U S A Nov. 25, 1997 |
| Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. | Savino M, Ianzano L, Strippoli P, Ramenghi U, Arslanian A, Bagnara GP, Joenje H, Zelante L, Savoia A | Am J Hum Genet Dec. 1, 1997 |
| Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. | Levran O, Doggett NA, Auerbach AD | Hum Mutat Jan. 1, 1998 |
| Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. | Centra M, Memeo E, d'Apolito M, Savino M, Ianzano L, Notarangelo A, Liu J, Doggett NA, Zelante L, Savoia A | Genomics Aug. 1, 1998 |
| Functional activity of the fanconi anemia protein FAA requires FAC binding and nuclear localization. | Naf D, Kupfer GM, Suliman A, Lambert K, D'Andrea AD | Mol Cell Biol Oct. 1, 1998 |
| The fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation. | Yamashita T, Kupfer GM, Naf D, Suliman A, Joenje H, Asano S, D'Andrea AD | Proc Natl Acad Sci U S A Oct. 27, 1998 |
| Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. | Nakamura A, Matsuura S, Tauchi H, Hanada R, Ohashi H, Hasegawa T, Honda K, Masuno M, Imaizumi K, Sugita K, Ide T, Komatsu K | J Hum Genet Jan. 1, 1999 |
| Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. | Wijker M, Morgan NV, Herterich S, van Berkel CG, Tipping AJ, Gross HJ, Gille JJ, Pals G, Savino M, Altay C, Mohan S, Dokal I, Cavenagh J, Marsh J, van Weel M, Ortega JJ, Schuler D, Samochatova E, Karwacki M, Bekassy AN, Abecasis M, Ebell W, Kwee ML, de Ravel T, CG Mathew, et al. | Eur J Hum Genet Feb. 1, 1999 |
| A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. | Kupfer G, Naf D, Garcia-Higuera I, Wasik J, Cheng A, Yamashita T, Tipping A, Morgan N, Mathew CG, D'Andrea AD | Exp Hematol April 1, 1999 |
| High frequency of large intragenic deletions in the Fanconi anemia group A gene. | Morgan NV, Tipping AJ, Joenje H, Mathew CG | Am J Hum Genet Nov. 1, 1999 |
| Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. | Yamada T, Tachibana A, Shimizu T, Mugishima H, Okubo M, Sasaki MS | J Hum Genet Jan. 1, 2000 |
| Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. | Tamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R | Br J Haematol Oct. 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 |
| 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 |
| The sequence and analysis of duplication-rich human chromosome 16. | Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA | Nature Dec. 23, 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 |
| ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. | Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ | Science May 25, 2007 |
| Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra. | Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD | J Proteome Res Nov. 1, 2007 |
| Genetic subtyping of Fanconi anemia by comprehensive mutation screening. | Ameziane N, Errami A, Leveille F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G, Joenje H | Hum Mutat Feb. 1, 2008 |
| Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. | Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M | Mol Cell Aug. 8, 2008 |
| DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. | Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK | Nature Nov. 6, 2008 |
Last modification of this entry: Oct. 12, 2010.
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