Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.
| RefSeq Version | NM_000135.2, 66880552 |
| Length | 5460 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. |
| Product | Fanconi anemia group A protein isoform a |
| Comment | Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). |
| RefSeq | NP_000126.2 |
| CDS | 43..4410 | Exon (1) | 1..121 | Exon (2) | 1..121 | Exon (3) | 122..231 | Exon (4) | 232..325 | Exon (5) | 326..468 | Exon (6) | 469..564 | Exon (7) | 565..638 | Exon (8) | 639..751 | Exon (9) | 752..834 | Exon (10) | 835..868 | Exon (11) | 869..935 | Exon (12) | 936..1048 | Exon (13) | 1049..1125 | Exon (14) | 1126..1267 | Exon (15) | 1268..1401 | Exon (16) | 1402..1512 | Exon (17) | 1513..1608 | Exon (18) | 1609..1668 | Exon (19) | 1669..1757 | Exon (20) | 1758..1818 | Exon (21) | 1819..1868 | Exon (22) | 1869..1942 | Exon (23) | 1943..2056 | Exon (24) | 2057..2193 | Exon (25) | 2194..2264 | Exon (26) | 2265..2358 | Exon (27) | 2359..2546 | Exon (28) | 2547..2643 | Exon (29) | 2644..2820 | Exon (30) | 2821..2894 | Exon (31) | 2895..3023 | Exon (32) | 3024..3108 | Exon (33) | 3109..3281 | Exon (34) | 3282..3390 | Exon (35) | 3391..3450 | Exon (36) | 3451..3555 | Exon (37) | 3556..3668 | Exon (38) | 3669..3807 | Exon (39) | 3808..3870 | Exon (40) | 3871..3976 | Exon (41) | 3977..4052 | Exon (42) | 4053..4209 | Exon (43) | 4210..4302 | Exon (44) | 4303..5460 |
| Translation | MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNAL
LLEVEGPLCKKLSLSKVIDCDSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASS
VGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQSSLLLE
AVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQMEASCQHADVARAMLSDFVQ
MFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFG
VFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVLKASDAVQMQREWSFARTHPLLTSLYR
RLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCFPEAQQLLEDWVARLMAQAFE
SCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGSTRGYHGCSKKALVFLFTFLSEL
VPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTRLADLKVSIENMGLYEDLSSAGDI
TEPHSQALQDVEKAIMVFEHTGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSR
VAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVRAEPNSAEEPLGQLTAALGEL
RASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVD
LLLTSFCQNLMAASSVAPPERQGPWAALFVRTMCGRVLPAVLTRLCQLLRHQGPSLSAPH
VLGLAALAVHLGESRSALPEVDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAA
ISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEARQPLSEEDVASLSWRPLHLPS
ADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIH
EHFLPESSASGGCDGDLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISR
LQEMVADLELQQDLIVPLGHTPSQEHFLFEIFRRRLQALTSGWSVAASLQRQRELLMYKR
ILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFCSHGGALTQDITAHFFRGLLN
ACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKL
QEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFL
FFFSLMGLLSSHLTSNSTTDLPKAFHVCAAILECLEKRKISWLALFQLTESDLRLGRLLL
RVAPDQHTRLLPFAFYSLLSYFHEDAAIREEAFLHVAVDMYLKLVQLFVAGDTSTVSPPA
GRSLELKGQGNPVELITKARLFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQ
QAAPDADLSQEPHLF
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| Position | Chain | Variation | Link |
| 59 | + | a, t | dbSNP:1800282 |
| complement(63) | - | c, a | dbSNP:115856189 |
| 66 | + | c, g | dbSNP:76275444 |
| 157 | + | a, c | dbSNP:17232091 |
| complement(195) | - | t, c | dbSNP:76278570 |
| complement(199) | - | t, g | dbSNP:61757383 |
| complement(234) | - | t, c | dbSNP:61749989 |
| complement(251) | - | t, c | dbSNP:55692229 |
| 434 | + | c, g | dbSNP:34491278 |
| complement(441) | - | g, a | dbSNP:56190097 |
| complement(535) | - | c, a | dbSNP:113468465 |
| 555 | + | a, g | dbSNP:121907930 |
| 569 | + | c, t | dbSNP:35566151 |
| 584 | + | c, t | dbSNP:17232246 |
| complement(736) | - | t, g | dbSNP:61757384 |
| complement(796) | - | t, c | dbSNP:111944585 |
| 797 | + | a, g | dbSNP:17225943 |
| 831 | + | a, g | dbSNP:34354932 |
| complement(838) | - | t, c | dbSNP:7190823 |
| complement(843) | - | g, a | dbSNP:55660936 |
| 872 | + | c, g | dbSNP:35880318 |
| complement(899) | - | t, c | dbSNP:13336566 |
| complement(925) | - | t, c | dbSNP:113652135 |
| complement(945) | - | c, a | dbSNP:56062548 |
| complement(974) | - | g, a | dbSNP:75501942 |
| 995 | + | g, t | dbSNP:72552377 |
| 999 | + | c, g | dbSNP:17226068 |
| 1185 | + | g, t | dbSNP:1800331 |
| complement(1233) | - | g, a | dbSNP:112909352 |
| complement(1277) | - | g, a | dbSNP:11646374 |
| 1332 | + | a, g | dbSNP:1800332 |
| complement(1500) | - | g, c | dbSNP:75296274 |
| complement(1520) | - | g, a | dbSNP:113042003 |
| complement(1543) | - | t, c | dbSNP:2239359 |
| 1752 | + | c, g | dbSNP:17226344 |
| 1872 | + | a, g | dbSNP:1800338 |
| 1969 | + | c, g | dbSNP:17232910 |
| 1970 | + | c, g | dbSNP:34592408 |
| 1983 | + | a, g | dbSNP:17232917 |
| complement(1987) | - | , g | dbSNP:34413183 |
| 2063 | + | c, t | dbSNP:17232973 |
| complement(2141) | - | g, a | dbSNP:113436495 |
| complement(2143) | - | t, c | dbSNP:56369086 |
| 2193 | + | g, t | dbSNP:1131660 |
| 2258 | + | c, t | dbSNP:45441106 |
| complement(2334) | - | t, c | dbSNP:56267906 |
| complement(2468) | - | t, c | dbSNP:7195066 |
| complement(2474) | - | t, c | dbSNP:117450562 |
| complement(2591) | - | t, g | dbSNP:77805547 |
| 2616 | + | c, g | dbSNP:17233141 |
| complement(2631) | - | t, g | dbSNP:72807571 |
| 2943 | + | c, t | dbSNP:17226980 |
| 3053 | + | c, t | dbSNP:45501101 |
| 3129 | + | a, g | dbSNP:35402142 |
| complement(3156) | - | g, a | dbSNP:55758861 |
| 3225 | + | c, t | dbSNP:1800346 |
| 3240 | + | c, t | dbSNP:17227071 |
| 3295 | + | c, t | dbSNP:35283355 |
| 3305 | + | c, t | dbSNP:17233497 |
| complement(3469) | - | g, c | dbSNP:61753269 |
| complement(3633) | - | t, c | dbSNP:55773634 |
| 3696 | + | a, g | dbSNP:1800358 |
| complement(3849) | - | g, c | dbSNP:11649210 |
| complement(3862) | - | t, c | dbSNP:115431604 |
| 3901 | + | a, g | dbSNP:17227354 |
| 3901 | + | a, g | dbSNP:34360319 |
| 3933 | + | a, g | dbSNP:17227361 |
| 4024 | + | a, g | dbSNP:9282681 |
| complement(4061) | - | g, a | dbSNP:112734327 |
| 4077 | + | c, t | dbSNP:17227389 |
| 4078 | + | a, g | dbSNP:17227396 |
| 4291 | + | c, g | dbSNP:17227403 |
| 4317 | + | c, t | dbSNP:3743863 |
| complement(4345) | - | t, c | dbSNP:74977201 |
| 4372 | + | c, g | dbSNP:17233783 |
| complement(4514) | - | t, c | dbSNP:55859244 |
| complement(4519) | - | g, a | dbSNP:55679217 |
| 4564 | + | a, g | dbSNP:1230 |
| complement(4659) | - | g, a | dbSNP:56049032 |
| 4662 | + | c, g | dbSNP:17233797 |
| 4696 | + | c, t | dbSNP:17233804 |
| 4697 | + | a, g | dbSNP:17227417 |
| complement(4718) | - | g, a | dbSNP:112177258 |
| complement(4719) | - | t, g | dbSNP:56346328 |
| complement(4786) | - | g, a | dbSNP:56006529 |
| complement(4787) | - | t, c | dbSNP:55830337 |
| 4795 | + | c, g | dbSNP:17227424 |
| 4808 | + | a, g | dbSNP:17227431 |
| 5064 | + | c, t | dbSNP:17227438 |
| complement(5072) | - | t, g | dbSNP:4399534 |
| 5080 | + | g, t | dbSNP:17233812 |
| 5081 | + | , g | dbSNP:71137671 |
| 5082 | + | a, g | dbSNP:17233819 |
| complement(5082) | - | , c | dbSNP:66471129 |
| 5083 | + | c, t | dbSNP:62704561 |
| 5083 | + | , a | dbSNP:17233826 |
| complement(5084) | - | , t | dbSNP:76095533 |
| 5089 | + | g, t | dbSNP:17233833 |
| complement(5347) | - | t, c, a | dbSNP:55794507 |
| complement(5387) | - | g, a | dbSNP:116651894 |
| complement(5396) | - | t, c | dbSNP:16966023 |
| 5421 | + | c, t | dbSNP:17227452 |
| Gene Symbol | FANCA |
| Gene Synonym | FA; FA-H; FA1; FAA; FACA; FAH; FANCH; MGC75158 |
| Chromosome | 16 |
| Locus Map | 16q24.3 |
| All Transcripts | NM_000135 , NM_001018112 |
| Title | Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family . |
| Author | Solyom,S., Winqvist,R., Nikkila,J., Rapakko,K., Hirvikoski,P., Kokkonen,H. and Pylkas,K. |
| Journal | Cancer Lett. 302 (2), 113-118 (2011) |
| Title | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study . |
| Author | Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H., Schreiber,S. and Nebel,A. |
| Journal | Mutat. Res. 694 (1-2), 13-19 (2010) |
| Title | Cytoplasmic FANCA-FANCC complex interacts and stabilizes the cytoplasm-dislocalized leukemic nucleophosmin protein (NPMc) . |
| Author | Du,W., Li,J., Sipple,J., Chen,J. and Pang,Q. |
| Journal | J. Biol. Chem. 285 (48), 37436-37444 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Web-based, participant-driven studies yield novel genetic associations for common traits . |
| Author | Eriksson,N., Macpherson,J.M., Tung,J.Y., Hon,L.S., Naughton,B., Saxonov,S., Avey,L., Wojcicki,A., Pe'er,I. and Mountain,J. |
| Journal | PLoS Genet. 6 (6), E1000993 (2010) |
| Title | Sequence variation in the Fanconi anemia gene FAA . |
| Author | Levran,O., Erlich,T., Magdalena,N., Gregory,J.J., Batish,S.D., Verlander,P.C. and Auerbach,A.D. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 94 (24), 13051-13056 (1997) |
| Title | The genomic organization of the Fanconi anemia group A (FAA) gene . |
| Author | Ianzano,L., D'Apolito,M., Centra,M., Savino,M., Levran,O., Auerbach,A.D., Cleton-Jansen,A.M., Doggett,N.A., Pronk,J.C., Tipping,A.J., Gibson,R.A., Mathew,C.G., Whitmore,S.A., Apostolou,S., Callen,D.F., Zelante,L. and Savoia,A. |
| Journal | Genomics 41 (3), 309-314 (1997) |
| Title | Expression cloning of a cDNA for the major Fanconi anaemia gene, . |
| Author | Lo Ten Foe,J.R., Rooimans,M.A., Bosnoyan-Collins,L., Alon,N., Wijker,M., Parker,L., Lightfoot,J., Carreau,M., Callen,D.F., Savoia,A., Cheng,N.C., van Berkel,C.G., Strunk,M.H., Gille,J.J., Pals,G., Kruyt,F.A., Pronk,J.C., Arwert,F., Buchwald,M. and Joenje,H. |
| Journal | Nat. Genet. 14 (3), 320-323 (1996) |
| Title | A locus for Fanconi anemia on 16q determined by homozygosity mapping . |
| Author | Gschwend,M., Levran,O., Kruglyak,L., Ranade,K., Verlander,P.C., Shen,S., Faure,S., Weissenbach,J., Altay,C., Lander,E.S., Auerbach,A.D. and Botstein,D. |
| Journal | Am. J. Hum. Genet. 59 (2), 377-384 (1996) |
| Title | Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3 . |
| Author | Pronk,J.C., Gibson,R.A., Savoia,A., Wijker,M., Morgan,N.V., Melchionda,S., Ford,D., Temtamy,S., Ortega,J.J., Jansen,S. et al. |
| Journal | Nat. Genet. 11 (3), 338-340 (1995) |
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