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Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_000144 Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. ORF Sequence $183.57
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Protein Services


RefSeq Version NM_000144.4, 239787167
Length 7168 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
Product frataxin, mitochondrial isoform 1 preproprotein
Comment

Summary: This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009].


Transcript Variant: This variant (1) encodes the longer isoform (1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000135.2
CDS 221..853
Misc Feature(1)113..115
Misc Feature(2)488..769
Misc Feature(3)order(494..496,518..523,530..532,542..544,551..556,
Exon (1)1..385
Gene:FXN
Gene Synonym:CyaY; FA; FARR; FRDA; X25
Exon (2)386..483
Gene:FXN
Gene Synonym:CyaY; FA; FARR; FRDA; X25
Exon (3)484..604
Gene:FXN
Gene Synonym:CyaY; FA; FARR; FRDA; X25
Exon (4)605..702
Gene:FXN
Gene Synonym:CyaY; FA; FARR; FRDA; X25
Exon (5)703..7168
Gene:FXN
Gene Synonym:CyaY; FA; FARR; FRDA; X25
Translation MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQR GLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTF EDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGV SLHELLAAELTKALKTKLDLSSLAYSGKDA
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Position Chain Variation Link
17+dbSNP:
17+a, gdbSNP:73647059
214+a, gdbSNP:145006100
221+a, cdbSNP:147643987
222+c, tdbSNP:142133355
222+, tdbSNP:149724959
223+a, g, tdbSNP:104894108
231..232+, tcdbSNP:143232208
274+a, gdbSNP:2481598
320+, gdbSNP:138837292
324+, cdbSNP:140510894
338+, cdbSNP:138491271
338+c, tdbSNP:145854903
377..378+, cdbSNP:141935559
390+dbSNP:
390+c, tdbSNP:180718803
399+a, gdbSNP:141858334
420+a, gdbSNP:146284289
422..425+gtca, ttgdbSNP:138446138
446+a, gdbSNP:59907886
471+g, tdbSNP:57777433
474+c, gdbSNP:57215370
475+c, tdbSNP:201496405
517..518+dbSNP:
517..518+, tdbSNP:149284013
537+c, g, tdbSNP:104894105
537+, tdbSNP:145045861
560..572+, gcagacaagccatdbSNP:147211454
574+c, gdbSNP:148698100
577+a, gdbSNP:147571636
584+g, tdbSNP:142157346
589+c, tdbSNP:200543562
598+a, cdbSNP:140379038
601..604+, tgggdbSNP:151206121
609+dbSNP:
609+g, tdbSNP:104894107
658+c, gdbSNP:146818694
663+a, gdbSNP:140472905
667+a, gdbSNP:151193551
678+a, gdbSNP:77781994
680+a, tdbSNP:104894106
683+c, tdbSNP:138471431
685+a, gdbSNP:149229839
687+c, tdbSNP:143340609
706+dbSNP:
706+a, gdbSNP:202038201
713+c, tdbSNP:138034837
714+c, gdbSNP:143396368
730+a, gdbSNP:201483490
737+g, tdbSNP:56214919
744+a, tdbSNP:1052201
754..755+, gdbSNP:35275927
754+c, tdbSNP:61754561
757+c, tdbSNP:200232902
764+c, tdbSNP:139616452
765+a, tdbSNP:149335881
768+a, gdbSNP:144610605
777+g, tdbSNP:148443992
787+a, gdbSNP:140257842
791+a, gdbSNP:200532520
813+g, tdbSNP:144104124
825+c, gdbSNP:1052195
826+c, gdbSNP:1052194
846+a, gdbSNP:74621026
924+c, gdbSNP:1052189
931..933+, ttgdbSNP:146039377
931+, caadbSNP:3831192
933..935+, gttdbSNP:35195101
933+, gttdbSNP:60033969
949+a, tdbSNP:201005872
977+c, gdbSNP:1052188
1003+c, gdbSNP:1052187
1007+c, gdbSNP:1052186
1076+c, tdbSNP:143495270
1099+c, tdbSNP:10890
1255+a, gdbSNP:182929891
1276+a, gdbSNP:4745577
1293+a, gdbSNP:58486903
1335+c, tdbSNP:7866878
1360+a, cdbSNP:116943766
1393+c, tdbSNP:4744806
1409+c, tdbSNP:7857635
1475+a, gdbSNP:4744807
1486+c, tdbSNP:4744808
1493+c, gdbSNP:147141848
1591+c, tdbSNP:140256972
1640..1641+, gdbSNP:34709044
1648+g, tdbSNP:149664725
1651+g, tdbSNP:11145043
1684+a, gdbSNP:144650893
1728+g, tdbSNP:78598719
1851+a, gdbSNP:190837595
1921+a, tdbSNP:112046543
1925+a, gdbSNP:113833390
1952+a, gdbSNP:17060788
2000+c, tdbSNP:183393884
2001+a, gdbSNP:17847101
2133+a, gdbSNP:17847102
2150+c, tdbSNP:142635037
2168+c, tdbSNP:4745578
2179+a, gdbSNP:4744810
2190+c, tdbSNP:192261472
2220+c, tdbSNP:2871218
2287+a, cdbSNP:36187644
2288+c, tdbSNP:201971361
2289..2290+, tttdbSNP:3066311
2291+a, tdbSNP:113265426
2292..2293+, atadbSNP:34548637
2293..2294+, aa, aaadbSNP:36089123
2293..2294+, taadbSNP:72221164
2293+a, tdbSNP:113836356
2297..2298+, aat, atadbSNP:10665877
2326+c, tdbSNP:182809280
2386+g, tdbSNP:11145047
2443+a, tdbSNP:188279964
2530+c, tdbSNP:116944579
2550+c, tdbSNP:1984004
2588+a, gdbSNP:11145050
2589+c, tdbSNP:113375157
2590+c, tdbSNP:1888334
2611+, adbSNP:34933249
2623..2625+, aagdbSNP:200175861
2624..2625+, agdbSNP:139068140
2625+a, gdbSNP:76529976
2625+, agdbSNP:111286168
2625+, c, ctdbSNP:3066309
2640+c, tdbSNP:1984003
2808+a, gdbSNP:1984002
2827..2828+, adbSNP:11432103
2833+a, gdbSNP:201746880
2834+a, gdbSNP:199749133
2835..2836+, adbSNP:34428177
2843..2844+, adbSNP:200337905
2880+g, tdbSNP:73647069
2931+c, tdbSNP:4745580
3012+g, tdbSNP:192217050
3017..3018+, tdbSNP:35464439
3055+a, gdbSNP:4745581
3157+c, gdbSNP:146574092
3319+c, tdbSNP:4745582
3320+a, gdbSNP:150186989
3325+g, tdbSNP:7875272
3357+c, tdbSNP:4745583
3378+a, gdbSNP:147094532
3403+c, tdbSNP:184401443
3418+a, gdbSNP:115528408
3421+c, tdbSNP:7865854
3545+c, tdbSNP:7866067
3550..3551+, aaatdbSNP:112623808
3551..3552+, aaatdbSNP:35734087
3554..3555+, taaadbSNP:72335845
3562..3563+, aaatdbSNP:10675400
3573..3574+, taaadbSNP:56827613
3586+a, gdbSNP:13297608
3627+a, tdbSNP:7875693
3657+g, tdbSNP:7849347
3676+a, gdbSNP:7874989
3739+a, tdbSNP:77364069
3750+g, tdbSNP:143536099
3859+g, tdbSNP:6560541
3888..3889+, aadbSNP:150169295
4047+c, tdbSNP:188391059
4109..4111+, tatdbSNP:143564618
4138+a, cdbSNP:7875564
4149+a, gdbSNP:7875659
4190+a, gdbSNP:192507473
4205+c, gdbSNP:7858249
4236+c, tdbSNP:56272226
4309+, tdbSNP:11310316
4311+g, tdbSNP:111431879
4320..4321+, ttadbSNP:147753767
4322..4323+, ttadbSNP:59923017
4322+a, tdbSNP:63389061
4322+, t, tttadbSNP:11327946
4323..4324+, ttadbSNP:72580561
4414+a, gdbSNP:10781379
4658+a, gdbSNP:147177647
4670+c, tdbSNP:148219670
4795+c, tdbSNP:56289301
4818+a, gdbSNP:113695176
4823..4824+, cdbSNP:35067863
4842+c, tdbSNP:141166099
4843+a, gdbSNP:150714901
4858+a, cdbSNP:72724260
4930+a, gdbSNP:185073365
4977+c, tdbSNP:188899351
5003..5004+, adbSNP:34235465
5073..5074+, gdbSNP:34356733
5091+c, tdbSNP:141798960
5092+a, gdbSNP:11145061
5110+a, gdbSNP:12554971
5163+c, tdbSNP:181918026
5255+c, gdbSNP:7874105
5312+g, tdbSNP:11145063
5368+c, tdbSNP:115046450
5447..5448+, tdbSNP:35383713
5505+a, gdbSNP:184628569
5560+a, gdbSNP:10869821
5582+g, tdbSNP:79687055
5655+a, cdbSNP:60353555
5749+a, gdbSNP:189899104
5856+a, tdbSNP:34267525
5878..5881+, ggccdbSNP:199653475
5880+c, gdbSNP:7848466
5986+a, tdbSNP:11145068
5987+c, gdbSNP:151240103
5999+c, tdbSNP:11145069
6003..6004+, aadbSNP:60780359
6021+a, gdbSNP:35104955
6037+a, gdbSNP:11145070
6072+a, gdbSNP:114535854
6102+a, gdbSNP:181420522
6119+a, cdbSNP:11145072
6122+a, gdbSNP:80012734
6145+c, tdbSNP:185002782
6254+c, gdbSNP:10869823
6303+c, gdbSNP:7866579
6318+a, tdbSNP:11145073
6415+a, gdbSNP:12346204
6442+c, tdbSNP:116391013
6467+a, gdbSNP:7039631
6577+a, gdbSNP:189908213
6592+, gdbSNP:71500346
6599+, tdbSNP:67054076
6622+a, gdbSNP:75329120
6656+c, tdbSNP:7024295
6699+a, gdbSNP:79499353
6776+, adbSNP:201904147
6777+, tdbSNP:11301594
6780..6784+caca, tcacgdbSNP:71507115
6784+a, gdbSNP:57561255
6851+a, gdbSNP:147104515
6899+c, tdbSNP:147743430
6941+c, tdbSNP:181855141
6952+c, tdbSNP:1045632
7068+a, tdbSNP:117140455
7094+c, tdbSNP:186297986
7141+g, tdbSNP:116859992
Gene SymbolFXN
Gene SynonymCyaY; FA; FARR; FRDA; X25
Chromosome9
Locus Map9q21.11
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000144 Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $3225.60
ORF Sequence $183.57
NM_001161706 Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. Full Length $284.20
ORF Sequence $159.00
NM_181425 Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. Full Length $3229.20
ORF Sequence $171.39
Title Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms .
Author Li,H., Gakh,O., Smith,D.Y. IV, Ranatunga,W.K. and Isaya,G.
Journal J. Biol. Chem. 288 (6), 4116-4127 (2013)
Title Friedreich ataxia: neuropathology revised .
Author Koeppen,A.H. and Mazurkiewicz,J.E.
Journal J. Neuropathol. Exp. Neurol. 72 (2), 78-90 (2013)
Title Heterotrifunctional chemical cross-linking mass spectrometry confirms physical interaction between human frataxin and ISU .
Author Watson,H.M., Gentry,L.E., Asuru,A.P., Wang,Y., Marcus,S. and Busenlehner,L.S.
Journal Biochemistry 51 (35), 6889-6891 (2012)
Title miR-886-3p levels are elevated in Friedreich ataxia .
Author Mahishi,L.H., Hart,R.P., Lynch,D.R. and Ratan,R.R.
Journal J. Neurosci. 32 (27), 9369-9373 (2012)
Title Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia .
Author Xia,H., Cao,Y., Dai,X., Marelja,Z., Zhou,D., Mo,R., Al-Mahdawi,S., Pook,M.A., Leimkuhler,S., Rouault,T.A. and Li,K.
Journal PLoS ONE 7 (10), E47847 (2012)
Title Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin .
Author Babcock,M., de Silva,D., Oaks,R., Davis-Kaplan,S., Jiralerspong,S., Montermini,L., Pandolfo,M. and Kaplan,J.
Journal Science 276 (5319), 1709-1712 (1997)
Title Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion .
Author Bidichandani,S.I., Ashizawa,T. and Patel,P.I.
Journal Am. J. Hum. Genet. 60 (5), 1251-1256 (1997)
Title The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase .
Author Carvajal,J.J., Pook,M.A., dos Santos,M., Doudney,K., Hillermann,R., Minogue,S., Williamson,R., Hsuan,J.J. and Chamberlain,S.
Journal Nat. Genet. 14 (2), 157-162 (1996)
Title Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion .
Author Campuzano,V., Montermini,L., Molto,M.D., Pianese,L., Cossee,M., Cavalcanti,F., Monros,E., Rodius,F., Duclos,F., Monticelli,A., Zara,F., Canizares,J., Koutnikova,H., Bidichandani,S.I., Gellera,C., Brice,A., Trouillas,P., De Michele,G., Filla,A., De Frutos,R., Palau,F., Patel,P.I., Di Donato,S., Mandel,J.L., Cocozza,S., Koenig,M. and Pandolfo,M.
Journal Science 271 (5254), 1423-1427 (1996)
Title The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13 .
Author Montermini,L., Rodius,F., Pianese,L., Molto,M.D., Cossee,M., Campuzano,V., Cavalcanti,F., Monticelli,A., Palau,F., Gyapay,G. et al.
Journal Am. J. Hum. Genet. 57 (5), 1061-1067 (1995)

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