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FANCA_HUMAN
ID   FANCA_HUMAN             Reviewed;        1455 AA.
AC   O15360; A5D923; B4DRI7; H3BSR5; O75266; Q6PL10; Q92497; Q96H18; Q9UEA5;
AC   Q9UEL8; Q9UEL9; Q9UPK3; Q9Y6M2;
DT   01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT   15-MAY-2007, sequence version 2.
DT   03-AUG-2022, entry version 199.
DE   RecName: Full=Fanconi anemia group A protein;
DE            Short=Protein FACA;
GN   Name=FANCA; Synonyms=FAA, FACA, FANCH;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS SER-501 AND ILE-717.
RC   TISSUE=Lymphoblast;
RX   PubMed=8896563; DOI=10.1038/ng1196-320;
RA   Lo Ten Foe J.R., Rooimans M.A., Bosnoyan-Collins L., Alon N., Wijker M.,
RA   Parker L., Lightfoot J., Carreau M., Callen D.F., Savoia A., Cheng N.C.,
RA   van Berkel C.G.M., Strunk M.H.P., Gille J.J.P., Pals G., Kruyt F.A.E.,
RA   Pronk J.C., Arwert F., Buchwald M., Joenje H.;
RT   "Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.";
RL   Nat. Genet. 14:320-323(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANT SER-501.
RX   PubMed=9169126; DOI=10.1006/geno.1997.4675;
RA   Ianzano L., D'Apolito M., Centra M., Savino M., Levran O., Auerbach A.D.,
RA   Cleton-Jansen A.-M., Doggett N.A., Pronk J.C., Tipping A.J., Gibson R.A.,
RA   Mathew C.G., Whitmore S.A., Apostolou S., Callen F.C., Zelante L.,
RA   Savoia A.;
RT   "The genomic organization of the Fanconi anemia group A (FAA) gene.";
RL   Genomics 41:309-314(1997).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RA   Ricke D.O., Bruce D., Mundt M., Doggett N., Munk C., Saunders E.,
RA   Robinson D., Jones M., Buckingham J., Chasteen L., Thompson S., Goodwin L.,
RA   Bryant J., Tesmer J., Meincke L., Longmire J., White S., Ueng S., Tatum O.,
RA   Campbell C., Fawcett J., Maltbie M., Deaven L.;
RT   "Sequencing of human Fanconi anemia complementation group A gene genomic
RT   region.";
RL   Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ALA-266; SER-501 AND
RP   ASP-809.
RG   NIEHS SNPs program;
RL   Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT ILE-717.
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15616553; DOI=10.1038/nature03187;
RA   Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA   Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA   Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA   Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA   Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA   Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA   Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA   Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA   Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA   Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA   Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA   Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA   Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA   Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA   Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA   Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA   Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA   Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA   Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA   DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA   Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA   Myers R.M., Rubin E.M., Pennacchio L.A.;
RT   "The sequence and analysis of duplication-rich human chromosome 16.";
RL   Nature 432:988-994(2004).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ALA-266.
RC   TISSUE=Cervix;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [8]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 491-571 AND 610-671, AND VARIANT
RP   SER-501.
RX   PubMed=9721219; DOI=10.1006/geno.1998.5353;
RA   Centra M., Memeo E., D'Apolito M., Savino M., Ianzano L., Notarangelo A.,
RA   Liu J., Doggett N.A., Zelante L., Savoia A.;
RT   "Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and
RT   characterization of two genomic deletions.";
RL   Genomics 51:463-467(1998).
RN   [9]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 491-542.
RX   PubMed=9711872;
RX   DOI=10.1002/(sici)1098-1004(1998)12:3<145::aid-humu2>3.0.co;2-g;
RA   Levran O., Doggett N.A., Auerbach A.D.;
RT   "Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.";
RL   Hum. Mutat. 12:145-152(1998).
RN   [10]
RP   SUBCELLULAR LOCATION, AND MUTAGENESIS.
RX   PubMed=9742112; DOI=10.1128/mcb.18.10.5952;
RA   Naef D., Kupfer G.M., Suliman A., Lambert K., D'Andrea A.D.;
RT   "Functional activity of the Fanconi anemia protein FAA requires FAC binding
RT   and nuclear localization.";
RL   Mol. Cell. Biol. 18:5952-5960(1998).
RN   [11]
RP   IDENTIFICATION IN A COMPLEX WITH FANCC; FANCE; FANCF; FANCG AND FANCL.
RX   PubMed=12724401; DOI=10.1128/mcb.23.10.3417-3426.2003;
RA   Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H.,
RA   Hoatlin M.E., Wang W.;
RT   "A multiprotein nuclear complex connects Fanconi anemia and Bloom
RT   syndrome.";
RL   Mol. Cell. Biol. 23:3417-3426(2003).
RN   [12]
RP   PHOSPHORYLATION.
RX   PubMed=9789045; DOI=10.1073/pnas.95.22.13085;
RA   Yamashita T., Kupfer G.M., Naf D., Suliman A., Joenje H., Asano S.,
RA   D'Andrea A.D.;
RT   "The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC
RT   nuclear accumulation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 95:13085-13090(1998).
RN   [13]
RP   IDENTIFICATION IN A COMPLEX WITH EIF2AK2; FANCC; FANCG AND HSP70.
RX   PubMed=15299030; DOI=10.1074/jbc.m403884200;
RA   Zhang X., Li J., Sejas D.P., Rathbun K.R., Bagby G.C., Pang Q.;
RT   "The Fanconi anemia proteins functionally interact with the protein kinase
RT   regulated by RNA (PKR).";
RL   J. Biol. Chem. 279:43910-43919(2004).
RN   [14]
RP   IDENTIFICATION IN A COMPLEX WITH FANCB; FANCC; FANCE; FANCF; FANCG AND
RP   FANCL.
RX   PubMed=15502827; DOI=10.1038/ng1458;
RA   Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C.,
RA   Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W.,
RA   Joenje H.;
RT   "X-linked inheritance of Fanconi anemia complementation group B.";
RL   Nat. Genet. 36:1219-1224(2004).
RN   [15]
RP   IDENTIFICATION IN A COMPLEX WITH FANCB; FANCC; FANCE; FANCF; FANCG; FANCL
RP   AND FANCM.
RX   PubMed=16116422; DOI=10.1038/ng1626;
RA   Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P.,
RA   Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H.,
RA   de Winter J.P., Wang W.;
RT   "A human ortholog of archaeal DNA repair protein Hef is defective in
RT   Fanconi anemia complementation group M.";
RL   Nat. Genet. 37:958-963(2005).
RN   [16]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Embryonic kidney;
RX   PubMed=17525332; DOI=10.1126/science.1140321;
RA   Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E.,
RA   Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y.,
RA   Gygi S.P., Elledge S.J.;
RT   "ATM and ATR substrate analysis reveals extensive protein networks
RT   responsive to DNA damage.";
RL   Science 316:1160-1166(2007).
RN   [17]
RP   INTERACTION WITH HES1, AND SUBCELLULAR LOCATION.
RX   PubMed=18550849; DOI=10.1182/blood-2008-04-152710;
RA   Tremblay C.S., Huang F.F., Habi O., Huard C.C., Godin C., Levesque G.,
RA   Carreau M.;
RT   "HES1 is a novel interactor of the Fanconi anemia core complex.";
RL   Blood 112:2062-2070(2008).
RN   [18]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA   Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA   Greff Z., Keri G., Stemmann O., Mann M.;
RT   "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT   kinome across the cell cycle.";
RL   Mol. Cell 31:438-448(2008).
RN   [19]
RP   IDENTIFICATION IN THE FA COMPLEX, AND INTERACTION WITH C1ORF86.
RX   PubMed=22343915; DOI=10.1182/blood-2011-10-385963;
RA   Ali A.M., Pradhan A., Singh T.R., Du C., Li J., Wahengbam K., Grassman E.,
RA   Auerbach A.D., Pang Q., Meetei A.R.;
RT   "FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required
RT   for functional integrity of the FA-BRCA DNA repair pathway.";
RL   Blood 119:3285-3294(2012).
RN   [20]
RP   IDENTIFICATION IN THE FA COMPLEX, AND INTERACTION WITH C1ORF86.
RX   PubMed=22705371; DOI=10.1016/j.molcel.2012.05.026;
RA   Yan Z., Guo R., Paramasivam M., Shen W., Ling C., Fox D. III, Wang Y.,
RA   Oostra A.B., Kuehl J., Lee D.Y., Takata M., Hoatlin M.E., Schindler D.,
RA   Joenje H., de Winter J.P., Li L., Seidman M.M., Wang W.;
RT   "A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to
RT   the Fanconi anemia DNA repair network.";
RL   Mol. Cell 47:61-75(2012).
RN   [21]
RP   IDENTIFICATION IN THE FA COMPLEX.
RX   PubMed=22266823; DOI=10.1038/nsmb.2222;
RA   Kim H., Yang K., Dejsuphong D., D'Andrea A.D.;
RT   "Regulation of Rev1 by the Fanconi anemia core complex.";
RL   Nat. Struct. Mol. Biol. 19:164-170(2012).
RN   [22]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma, and Erythroleukemia;
RX   PubMed=23186163; DOI=10.1021/pr300630k;
RA   Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA   Mohammed S.;
RT   "Toward a comprehensive characterization of a human cancer cell
RT   phosphoproteome.";
RL   J. Proteome Res. 12:260-271(2013).
RN   [23]
RP   VARIANT FANCA TYR-1359, AND VARIANTS ALA-266; SER-501 AND ASP-809.
RX   PubMed=9399890; DOI=10.1086/301632;
RA   Savino M., Ianzano L., Strippoli P., Ramenghi U., Arslanian A.,
RA   Bagnara G.P., Joenje H., Zelante L., Savoia A.;
RT   "Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.";
RL   Am. J. Hum. Genet. 61:1246-1253(1997).
RN   [24]
RP   VARIANTS FANCA PHE-244; CYS-435; ARG-492; PRO-817; PRO-845; LEU-1055;
RP   GLY-1117; GLU-1128; ALA-1131; PHE-1263 DEL; ARG-1302 AND ASP-1417, AND
RP   VARIANTS LYS-8; VAL-181; GLY-252; SER-501; LEU-739; ASP-809 AND ALA-1328.
RX   PubMed=9371798; DOI=10.1073/pnas.94.24.13051;
RA   Levran O., Erlich T., Magdalena N., Gregory J.J., Batish S.D.,
RA   Verlander P.C., Auerbach A.D.;
RT   "Sequence variation in the Fanconi anemia gene FAA.";
RL   Proc. Natl. Acad. Sci. U.S.A. 94:13051-13056(1997).
RN   [25]
RP   VARIANTS FANCA ASN-598; PRO-1110; LEU-1262; PHE-1263 DEL; LEU-1324 AND
RP   ILE-1360.
RX   PubMed=10521298; DOI=10.1086/302627;
RA   Morgan N.V., Tipping A.J., Joenje H., Mathew C.G.;
RT   "High frequency of large intragenic deletions in the Fanconi anemia group A
RT   gene.";
RL   Am. J. Hum. Genet. 65:1330-1341(1999).
RN   [26]
RP   VARIANTS FANCA ASN-598; ARG-858 AND PHE-1088.
RX   PubMed=10094191; DOI=10.1038/sj.ejhg.5200248;
RA   Wijker M., Morgan N.V., Herterich S., van Berkel C.G., Tipping A.J.,
RA   Gross H.J., Gille J.J., Pals G., Savino M., Altay C., Mohan S., Dokal I.,
RA   Cavenagh J., Marsh J., van Weel M., Ortega J.J., Schuler D.,
RA   Samochatova E., Karwacki M., Bekassy A.N., Abecasis M., Ebell W.,
RA   Kwee M.L., de Ravel T., Mathew C.G.;
RT   "Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.";
RL   Eur. J. Hum. Genet. 7:52-59(1999).
RN   [27]
RP   VARIANTS FANCA PRO-1110 AND GLY-1117, AND CHARACTERIZATION OF VARIANT FANCA
RP   PRO-1110.
RX   PubMed=10210316; DOI=10.1016/s0301-472x(99)00022-3;
RA   Kupfer G., Naef D., Garcia-Higuera I., Wasik J., Cheng A., Yamashita T.,
RA   Tipping A., Morgan N., Mathew C.G., D'Andrea A.D.;
RT   "A patient-derived mutant form of the Fanconi anemia protein, FANCA, is
RT   defective in nuclear accumulation.";
RL   Exp. Hematol. 27:587-593(1999).
RN   [28]
RP   VARIANT FANCA TRP-1055.
RX   PubMed=9929978; DOI=10.1007/s100380050106;
RA   Nakamura A., Matsuura S., Tauchi H., Hanada R., Ohashi H., Hasegawa T.,
RA   Honda K., Masuno M., Imaizumi K., Sugita K., Ide T., Komatsu K.;
RT   "Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese
RT   patients.";
RL   J. Hum. Genet. 44:48-51(1999).
RN   [29]
RP   VARIANT FANCA ARG-858.
RX   PubMed=11091222; DOI=10.1046/j.1365-2141.2000.02323.x;
RA   Tamary H., Bar-Yam R., Shalmon L., Rachavi G., Krostichevsky M.,
RA   Elhasid R., Barak Y., Kapelushnik J., Yaniv I., Auerbach A.D., Zaizov R.;
RT   "Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish
RT   patients.";
RL   Br. J. Haematol. 111:338-343(2000).
RN   [30]
RP   VARIANT FANCA PRO-1082.
RX   PubMed=10807541; DOI=10.1007/s100380050203;
RA   Yamada T., Tachibana A., Shimizu T., Mugishima H., Okubo M., Sasaki M.S.;
RT   "Novel mutations of the FANCG gene causing alternative splicing in Japanese
RT   Fanconi anemia.";
RL   J. Hum. Genet. 45:159-166(2000).
RN   [31]
RP   VARIANTS FANCA ARG-210; PRO-660; ASP-843; PRO-869; PRO-1249; LEU-1324;
RP   THR-1346 AND HIS-1400, AND VARIANTS GLU-761; GLN-951; TRP-951 AND ALA-1131.
RX   PubMed=17924555; DOI=10.1002/humu.20625;
RA   Ameziane N., Errami A., Leveille F., Fontaine C., de Vries Y.,
RA   van Spaendonk R.M., de Winter J.P., Pals G., Joenje H.;
RT   "Genetic subtyping of Fanconi anemia by comprehensive mutation screening.";
RL   Hum. Mutat. 29:159-166(2008).
RN   [32]
RP   VARIANTS [LARGE SCALE ANALYSIS] ALA-266; VAL-412; SER-501; ASP-809 AND
RP   PHE-1088.
RX   PubMed=18987736; DOI=10.1038/nature07485;
RA   Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K.,
RA   Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L.,
RA   Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A.,
RA   Abbott S., Locke D., Hillier L.W., Miner T., Fulton L., Magrini V.,
RA   Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R.,
RA   Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E.,
RA   Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S.,
RA   Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A.,
RA   DiPersio J.F., Wilson R.K.;
RT   "DNA sequencing of a cytogenetically normal acute myeloid leukaemia
RT   genome.";
RL   Nature 456:66-72(2008).
CC   -!- FUNCTION: DNA repair protein that may operate in a postreplication
CC       repair or a cell cycle checkpoint function. May be involved in
CC       interstrand DNA cross-link repair and in the maintenance of normal
CC       chromosome stability.
CC   -!- SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA,
CC       FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is
CC       not found in FA patients. In complex with FANCF, FANCG and FANCL, but
CC       not with FANCC, nor FANCE, interacts with HES1; this interaction may be
CC       essential for the stability and nuclear localization of FA core complex
CC       proteins. The complex with FANCC and FANCG may also include EIF2AK2 and
CC       HSP70. Interacts with FAAP20/C1orf86; interaction is direct.
CC       {ECO:0000269|PubMed:12724401, ECO:0000269|PubMed:15299030,
CC       ECO:0000269|PubMed:15502827, ECO:0000269|PubMed:16116422,
CC       ECO:0000269|PubMed:18550849, ECO:0000269|PubMed:22266823,
CC       ECO:0000269|PubMed:22343915, ECO:0000269|PubMed:22705371}.
CC   -!- INTERACTION:
CC       O15360; Q0VG06: FAAP100; NbExp=3; IntAct=EBI-81570, EBI-2557990;
CC       O15360; Q6NZ36-1: FAAP20; NbExp=5; IntAct=EBI-81570, EBI-15965017;
CC       O15360; Q9NPI8: FANCF; NbExp=5; IntAct=EBI-81570, EBI-81589;
CC       O15360; O15287: FANCG; NbExp=13; IntAct=EBI-81570, EBI-81610;
CC       O15360; P62993: GRB2; NbExp=2; IntAct=EBI-81570, EBI-401755;
CC       O15360-3; O15287: FANCG; NbExp=5; IntAct=EBI-21315382, EBI-81610;
CC   -!- SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The major form is
CC       nuclear. The minor form is cytoplasmic.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=O15360-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=O15360-2; Sequence=VSP_007039;
CC       Name=3;
CC         IsoId=O15360-3; Sequence=VSP_054682;
CC   -!- PTM: Phosphorylation is required for the formation of the nuclear
CC       complex. Not phosphorylated in cells derived from groups A, B, C, E, F,
CC       G, and H. {ECO:0000269|PubMed:9789045}.
CC   -!- DISEASE: Fanconi anemia, complementation group A (FANCA) [MIM:227650]:
CC       A disorder affecting all bone marrow elements and resulting in anemia,
CC       leukopenia and thrombopenia. It is associated with cardiac, renal and
CC       limb malformations, dermal pigmentary changes, and a predisposition to
CC       the development of malignancies. At the cellular level it is associated
CC       with hypersensitivity to DNA-damaging agents, chromosomal instability
CC       (increased chromosome breakage) and defective DNA repair.
CC       {ECO:0000269|PubMed:10094191, ECO:0000269|PubMed:10210316,
CC       ECO:0000269|PubMed:10521298, ECO:0000269|PubMed:10807541,
CC       ECO:0000269|PubMed:11091222, ECO:0000269|PubMed:17924555,
CC       ECO:0000269|PubMed:9371798, ECO:0000269|PubMed:9399890,
CC       ECO:0000269|PubMed:9929978}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC       Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/FA1ID102.html";
CC   -!- WEB RESOURCE: Name=Fanconi Anemia Mutation Database;
CC       URL="https://www2.rockefeller.edu/fanconi/genes/jumpa";
CC   -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC       URL="http://egp.gs.washington.edu/data/fanca/";
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DR   EMBL; X99226; CAA67610.1; -; mRNA.
DR   EMBL; Z83067; CAB05445.1; -; Genomic_DNA.
DR   EMBL; Z83068; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83069; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83070; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83071; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83072; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83073; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83074; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83075; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83076; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83077; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83078; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83079; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83080; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83081; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83082; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83083; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83084; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83085; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83086; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83087; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83088; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83089; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83090; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83091; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83092; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83093; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83094; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83095; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; Z83151; CAB05445.1; JOINED; Genomic_DNA.
DR   EMBL; AK299282; BAG61299.1; -; mRNA.
DR   EMBL; AC005360; AAC28751.1; -; Genomic_DNA.
DR   EMBL; AC005565; AAC33304.1; -; Genomic_DNA.
DR   EMBL; AC005567; AAC33401.1; -; Genomic_DNA.
DR   EMBL; AY598423; AAS99350.1; -; Genomic_DNA.
DR   EMBL; AC092385; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC008979; AAH08979.1; -; mRNA.
DR   EMBL; BC141972; AAI41973.1; -; mRNA.
DR   EMBL; AJ225084; CAA12393.1; -; Genomic_DNA.
DR   EMBL; AJ225085; CAA12394.1; -; Genomic_DNA.
DR   EMBL; AF054569; AAC28331.1; -; Genomic_DNA.
DR   CCDS; CCDS32515.1; -. [O15360-1]
DR   CCDS; CCDS42221.1; -. [O15360-2]
DR   CCDS; CCDS67099.1; -. [O15360-3]
DR   PIR; T02755; T02755.
DR   RefSeq; NP_000126.2; NM_000135.2. [O15360-1]
DR   RefSeq; NP_001018122.1; NM_001018112.1. [O15360-2]
DR   RefSeq; NP_001273096.1; NM_001286167.1. [O15360-3]
DR   PDB; 7KZP; EM; 3.10 A; A/S=1-1455.
DR   PDB; 7KZQ; EM; 4.20 A; A/S=1-1455.
DR   PDB; 7KZR; EM; 4.20 A; A/S=1-1455.
DR   PDB; 7KZS; EM; 4.20 A; A/S=1-1455.
DR   PDB; 7KZT; EM; 4.20 A; A/S=1-1455.
DR   PDB; 7KZV; EM; 4.20 A; A/S=1-1455.
DR   PDBsum; 7KZP; -.
DR   PDBsum; 7KZQ; -.
DR   PDBsum; 7KZR; -.
DR   PDBsum; 7KZS; -.
DR   PDBsum; 7KZT; -.
DR   PDBsum; 7KZV; -.
DR   AlphaFoldDB; O15360; -.
DR   SMR; O15360; -.
DR   BioGRID; 108472; 183.
DR   ComplexPortal; CPX-6263; Fanconi anemia ubiquitin ligase complex.
DR   CORUM; O15360; -.
DR   DIP; DIP-32650N; -.
DR   IntAct; O15360; 26.
DR   MINT; O15360; -.
DR   STRING; 9606.ENSP00000373952; -.
DR   MoonDB; O15360; Predicted.
DR   iPTMnet; O15360; -.
DR   PhosphoSitePlus; O15360; -.
DR   BioMuta; FANCA; -.
DR   CPTAC; CPTAC-3226; -.
DR   EPD; O15360; -.
DR   jPOST; O15360; -.
DR   MassIVE; O15360; -.
DR   MaxQB; O15360; -.
DR   PaxDb; O15360; -.
DR   PeptideAtlas; O15360; -.
DR   PRIDE; O15360; -.
DR   ProteomicsDB; 42431; -.
DR   ProteomicsDB; 48611; -. [O15360-1]
DR   ProteomicsDB; 48612; -. [O15360-2]
DR   Antibodypedia; 30916; 434 antibodies from 39 providers.
DR   DNASU; 2175; -.
DR   Ensembl; ENST00000389301.8; ENSP00000373952.3; ENSG00000187741.15. [O15360-1]
DR   Ensembl; ENST00000389302.7; ENSP00000373953.3; ENSG00000187741.15. [O15360-2]
DR   Ensembl; ENST00000568369.5; ENSP00000456829.1; ENSG00000187741.15. [O15360-3]
DR   GeneID; 2175; -.
DR   KEGG; hsa:2175; -.
DR   MANE-Select; ENST00000389301.8; ENSP00000373952.3; NM_000135.4; NP_000126.2.
DR   UCSC; uc002fou.2; human. [O15360-1]
DR   CTD; 2175; -.
DR   DisGeNET; 2175; -.
DR   GeneCards; FANCA; -.
DR   GeneReviews; FANCA; -.
DR   HGNC; HGNC:3582; FANCA.
DR   HPA; ENSG00000187741; Tissue enhanced (bone marrow, testis).
DR   MalaCards; FANCA; -.
DR   MIM; 227650; phenotype.
DR   MIM; 607139; gene.
DR   neXtProt; NX_O15360; -.
DR   OpenTargets; ENSG00000187741; -.
DR   Orphanet; 84; Fanconi anemia.
DR   PharmGKB; PA27995; -.
DR   VEuPathDB; HostDB:ENSG00000187741; -.
DR   eggNOG; ENOG502QT8N; Eukaryota.
DR   GeneTree; ENSGT00390000007852; -.
DR   HOGENOM; CLU_005268_0_0_1; -.
DR   InParanoid; O15360; -.
DR   OMA; RFWLNVF; -.
DR   OrthoDB; 46927at2759; -.
DR   PhylomeDB; O15360; -.
DR   TreeFam; TF333412; -.
DR   PathwayCommons; O15360; -.
DR   Reactome; R-HSA-6783310; Fanconi Anemia Pathway.
DR   SignaLink; O15360; -.
DR   SIGNOR; O15360; -.
DR   BioGRID-ORCS; 2175; 93 hits in 1085 CRISPR screens.
DR   ChiTaRS; FANCA; human.
DR   GeneWiki; FANCA; -.
DR   GenomeRNAi; 2175; -.
DR   Pharos; O15360; Tbio.
DR   PRO; PR:O15360; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   RNAct; O15360; protein.
DR   Bgee; ENSG00000187741; Expressed in right testis and 114 other tissues.
DR   ExpressionAtlas; O15360; baseline and differential.
DR   Genevisible; O15360; HS.
DR   GO; GO:0000785; C:chromatin; IDA:ComplexPortal.
DR   GO; GO:0005737; C:cytoplasm; TAS:ProtInc.
DR   GO; GO:0043240; C:Fanconi anaemia nuclear complex; IDA:UniProtKB.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
DR   GO; GO:0006281; P:DNA repair; TAS:ProtInc.
DR   GO; GO:0008585; P:female gonad development; IEA:Ensembl.
DR   GO; GO:0036297; P:interstrand cross-link repair; IC:ComplexPortal.
DR   GO; GO:0008584; P:male gonad development; IEA:Ensembl.
DR   GO; GO:0007140; P:male meiotic nuclear division; IEA:Ensembl.
DR   GO; GO:0006513; P:protein monoubiquitination; IDA:ComplexPortal.
DR   GO; GO:0065003; P:protein-containing complex assembly; TAS:ProtInc.
DR   GO; GO:2000348; P:regulation of CD40 signaling pathway; IEA:Ensembl.
DR   GO; GO:0051090; P:regulation of DNA-binding transcription factor activity; IEA:Ensembl.
DR   GO; GO:1905936; P:regulation of germ cell proliferation; IEA:Ensembl.
DR   GO; GO:0050727; P:regulation of inflammatory response; IEA:Ensembl.
DR   GO; GO:0045589; P:regulation of regulatory T cell differentiation; IBA:GO_Central.
DR   InterPro; IPR003516; FANCA.
DR   InterPro; IPR031729; Fanconi_A_N.
DR   PANTHER; PTHR12047; PTHR12047; 1.
DR   Pfam; PF03511; Fanconi_A; 1.
DR   Pfam; PF15865; Fanconi_A_N; 1.
DR   PRINTS; PR00826; FANCONIAGENE.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Cytoplasm; Disease variant; DNA damage;
KW   DNA repair; Fanconi anemia; Nucleus; Phosphoprotein; Reference proteome.
FT   CHAIN           1..1455
FT                   /note="Fanconi anemia group A protein"
FT                   /id="PRO_0000087179"
FT   MOTIF           18..34
FT                   /note="Nuclear localization signal"
FT                   /evidence="ECO:0000255"
FT   MOD_RES         1449
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:17525332,
FT                   ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:23186163"
FT   VAR_SEQ         298..1455
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_007039"
FT   VAR_SEQ         1390..1455
FT                   /note="GNPVELITKARLFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQQ
FT                   AAPDADLSQEPHLF -> AGQPRGTDNKSSSFSAAVNTSVPEKELLTRGRAAG (in
FT                   isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_054682"
FT   VARIANT         6
FT                   /note="V -> D (in dbSNP:rs1800282)"
FT                   /id="VAR_009637"
FT   VARIANT         8
FT                   /note="N -> K (in FANCA; benign variant; dbSNP:rs76275444)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009638"
FT   VARIANT         131
FT                   /note="T -> S (in dbSNP:rs34491278)"
FT                   /id="VAR_050982"
FT   VARIANT         176
FT                   /note="S -> F (in dbSNP:rs35566151)"
FT                   /id="VAR_050983"
FT   VARIANT         181
FT                   /note="A -> V (in FANCA; benign variant; dbSNP:rs17232246)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009639"
FT   VARIANT         210
FT                   /note="L -> R (in FANCA)"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038012"
FT   VARIANT         244
FT                   /note="L -> F (in FANCA)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009640"
FT   VARIANT         252
FT                   /note="D -> G (in FANCA; benign variant; dbSNP:rs17225943)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009641"
FT   VARIANT         266
FT                   /note="T -> A (in dbSNP:rs7190823)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:9399890,
FT                   ECO:0000269|Ref.4"
FT                   /id="VAR_017496"
FT   VARIANT         277
FT                   /note="A -> G (in dbSNP:rs35880318)"
FT                   /id="VAR_050984"
FT   VARIANT         286
FT                   /note="Q -> R (in dbSNP:rs13336566)"
FT                   /id="VAR_050985"
FT   VARIANT         412
FT                   /note="A -> V (in dbSNP:rs11646374)"
FT                   /evidence="ECO:0000269|PubMed:18987736"
FT                   /id="VAR_050986"
FT   VARIANT         435
FT                   /note="R -> C (in FANCA; dbSNP:rs148473140)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009642"
FT   VARIANT         492
FT                   /note="H -> R (in FANCA; dbSNP:rs925457555)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009643"
FT   VARIANT         501
FT                   /note="G -> S (in dbSNP:rs2239359)"
FT                   /evidence="ECO:0000269|PubMed:18987736,
FT                   ECO:0000269|PubMed:8896563, ECO:0000269|PubMed:9169126,
FT                   ECO:0000269|PubMed:9371798, ECO:0000269|PubMed:9399890,
FT                   ECO:0000269|PubMed:9721219, ECO:0000269|Ref.4"
FT                   /id="VAR_009644"
FT   VARIANT         598
FT                   /note="D -> N (in FANCA)"
FT                   /evidence="ECO:0000269|PubMed:10094191,
FT                   ECO:0000269|PubMed:10521298"
FT                   /id="VAR_017497"
FT   VARIANT         643
FT                   /note="P -> A (in dbSNP:rs17232910)"
FT                   /id="VAR_050987"
FT   VARIANT         660
FT                   /note="L -> P (in FANCA; dbSNP:rs1567621042)"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038013"
FT   VARIANT         717
FT                   /note="M -> I (in dbSNP:rs1131660)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:8896563"
FT                   /id="VAR_061649"
FT   VARIANT         739
FT                   /note="P -> L (in dbSNP:rs45441106)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009645"
FT   VARIANT         761
FT                   /note="V -> E"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038014"
FT   VARIANT         809
FT                   /note="G -> D (in dbSNP:rs7195066)"
FT                   /evidence="ECO:0000269|PubMed:18987736,
FT                   ECO:0000269|PubMed:9371798, ECO:0000269|PubMed:9399890,
FT                   ECO:0000269|Ref.4"
FT                   /id="VAR_009646"
FT   VARIANT         817
FT                   /note="L -> P (in FANCA)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009647"
FT   VARIANT         843
FT                   /note="Y -> D (in FANCA; dbSNP:rs374030577)"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038015"
FT   VARIANT         845
FT                   /note="L -> P (in FANCA; dbSNP:rs1173704265)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009648"
FT   VARIANT         858
FT                   /note="S -> R (in FANCA; dbSNP:rs17233141)"
FT                   /evidence="ECO:0000269|PubMed:10094191,
FT                   ECO:0000269|PubMed:11091222"
FT                   /id="VAR_017498"
FT   VARIANT         869
FT                   /note="Q -> P (in FANCA; dbSNP:rs780825099)"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038016"
FT   VARIANT         951
FT                   /note="R -> Q (in dbSNP:rs755922289)"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038017"
FT   VARIANT         951
FT                   /note="R -> W (in dbSNP:rs755546887)"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038018"
FT   VARIANT         1055
FT                   /note="R -> L (in FANCA; dbSNP:rs1429943036)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009649"
FT   VARIANT         1055
FT                   /note="R -> W (in FANCA; dbSNP:rs753063086)"
FT                   /evidence="ECO:0000269|PubMed:9929978"
FT                   /id="VAR_017499"
FT   VARIANT         1082
FT                   /note="L -> P (in FANCA)"
FT                   /evidence="ECO:0000269|PubMed:10807541"
FT                   /id="VAR_017500"
FT   VARIANT         1088
FT                   /note="S -> F (in FANCA; dbSNP:rs17233497)"
FT                   /evidence="ECO:0000269|PubMed:10094191,
FT                   ECO:0000269|PubMed:18987736"
FT                   /id="VAR_017501"
FT   VARIANT         1110
FT                   /note="H -> P (in FANCA; loss of function)"
FT                   /evidence="ECO:0000269|PubMed:10210316,
FT                   ECO:0000269|PubMed:10521298"
FT                   /id="VAR_009650"
FT   VARIANT         1117
FT                   /note="R -> G (in FANCA; dbSNP:rs149277003)"
FT                   /evidence="ECO:0000269|PubMed:10210316,
FT                   ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009651"
FT   VARIANT         1128
FT                   /note="Q -> E (in FANCA; dbSNP:rs1439817346)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009652"
FT   VARIANT         1131
FT                   /note="T -> A (in FANCA; dbSNP:rs574034197)"
FT                   /evidence="ECO:0000269|PubMed:17924555,
FT                   ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009653"
FT   VARIANT         1249
FT                   /note="L -> P (in FANCA; dbSNP:rs753316789)"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038019"
FT   VARIANT         1262
FT                   /note="F -> L (in FANCA; dbSNP:rs1555534579)"
FT                   /evidence="ECO:0000269|PubMed:10521298"
FT                   /id="VAR_017502"
FT   VARIANT         1263
FT                   /note="Missing (in FANCA)"
FT                   /evidence="ECO:0000269|PubMed:10521298,
FT                   ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009654"
FT   VARIANT         1287
FT                   /note="V -> I (in dbSNP:rs17227354)"
FT                   /id="VAR_009655"
FT   VARIANT         1302
FT                   /note="W -> R (in FANCA; dbSNP:rs878853665)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009656"
FT   VARIANT         1324
FT                   /note="P -> L (in FANCA; dbSNP:rs182657062)"
FT                   /evidence="ECO:0000269|PubMed:10521298,
FT                   ECO:0000269|PubMed:17924555"
FT                   /id="VAR_017505"
FT   VARIANT         1328
FT                   /note="T -> A (in dbSNP:rs9282681)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009657"
FT   VARIANT         1346
FT                   /note="A -> T (in FANCA; likely benign variant;
FT                   dbSNP:rs17227396)"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038020"
FT   VARIANT         1359
FT                   /note="D -> Y (in FANCA; dbSNP:rs1555533313)"
FT                   /evidence="ECO:0000269|PubMed:9399890"
FT                   /id="VAR_017503"
FT   VARIANT         1360
FT                   /note="M -> I (in FANCA; dbSNP:rs1555533300)"
FT                   /evidence="ECO:0000269|PubMed:10521298"
FT                   /id="VAR_017504"
FT   VARIANT         1400
FT                   /note="R -> H (in FANCA; dbSNP:rs149851163)"
FT                   /evidence="ECO:0000269|PubMed:17924555"
FT                   /id="VAR_038021"
FT   VARIANT         1417
FT                   /note="H -> D (in FANCA; dbSNP:rs17227403)"
FT                   /evidence="ECO:0000269|PubMed:9371798"
FT                   /id="VAR_009658"
SQ   SEQUENCE   1455 AA;  162775 MW;  5A1918F2BEF4BC50 CRC64;
     MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL
     LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS
     VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE
     AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ
     MFVLRGFQKN SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG
     VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR THPLLTSLYR
     RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF PEAQQLLEDW VARLMAQAFE
     SCQLDSMVTA FLVVRQAALE GPSAFLSYAD WFKASFGSTR GYHGCSKKAL VFLFTFLSEL
     VPFESPRYLQ VHILHPPLVP GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI
     TEPHSQALQD VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR
     VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL GQLTAALGEL
     RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS KIQLSINTPR LEPREHMAVD
     LLLTSFCQNL MAASSVAPPE RQGPWAALFV RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH
     VLGLAALAVH LGESRSALPE VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA
     ISYSLCKFSS QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS
     ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE RQDFHQWAIH
     EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH SENSDLVFGG RTGNEDIISR
     LQEMVADLEL QQDLIVPLGH TPSQEHFLFE IFRRRLQALT SGWSVAASLQ RQRELLMYKR
     ILLRLPSSVL CGSSFQAEQP ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN
     ACLRSRDPSL MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL
     QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD CEREELLVFL
     FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI SWLALFQLTE SDLRLGRLLL
     RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA
     GRSLELKGQG NPVELITKAR LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ
     QAAPDADLSQ EPHLF
 
 
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