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