LOCUS AH003505 5589 bp DNA linear HUM 10-JUN-2016
DEFINITION Homo sapiens chromosome 9 frataxin (FRDA) gene, complete cds,
alternatively spliced.
ACCESSION AH003505 U43748 U43749 U43750 U43751 U43752 U43753
VERSION AH003505.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 5589)
AUTHORS 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., 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.
TITLE Friedreich's ataxia: autosomal recessive disease caused by an
intronic GAA triplet repeat expansion
JOURNAL Science 271 (5254), 1423-1427 (1996)
PUBMED 8596916
REFERENCE 2 (bases 1 to 5589)
AUTHORS Koenig,M. and Pandolfo,M.
TITLE Direct Submission
JOURNAL Submitted (21-DEC-1995) Massimo Pandolfo, Neurology-NB424, Baylor
College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
COMMENT On or before Jun 10, 2016 this sequence version replaced U43748.1,
U43749.1, U43750.1, U43751.1, U43752.1, U43753.1, AH003505.1.
FEATURES Location/Qualifiers
source 1..5589
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q13"
regulatory 1..414
/regulatory_class="promoter"
gene 415..5589
/gene="FRDA"
exon 415..799
/gene="FRDA"
/number=1
CDS join(635..799,3234..3331,3905..4025,4255..4352,5310..5343)
/gene="FRDA"
/note="Friedreich's ataxia protein; uses alternative exon
5b"
/codon_start=1
/product="frataxin"
/protein_id="AAA98509.1"
/translation="MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRT
DIDATCTPRRASSNQRGLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEET
LDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPS
RLTWLLWLFHP"
CDS join(635..799,3234..3331,3905..4025,4255..4352,4575..4725)
/gene="FRDA"
/note="Friedreich's ataxia protein; uses alternative exon
5a"
/codon_start=1
/product="frataxin"
/protein_id="AAA98508.1"
/translation="MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRT
DIDATCTPRRASSNQRGLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEET
LDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPS
SGPKRYDWTGKNWVFSHDGVSLHELLAAELTKALKTKLDLSWLAYSGKDA"
repeat_region 2185..2212
/gene="FRDA"
/rpt_unit_range=2185..2187
/rpt_unit_seq="gaa"
gap 2466..2565
/estimated_length=unknown
exon 3234..3331
/gene="FRDA"
/number=2
gap 3755..3854
/estimated_length=unknown
exon 3905..4025
/gene="FRDA"
/number=3
gap 4082..4181
/estimated_length=unknown
exon 4255..4352
/gene="FRDA"
/number=4
gap 4423..4522
/estimated_length=unknown
exon 4575..5060
/gene="FRDA"
/number=5a
3'UTR 4626..5060
/gene="FRDA"
regulatory 5042..5046
/regulatory_class="polyA_signal_sequence"
/gene="FRDA"
gap 5061..5160
/estimated_length=unknown
exon 5310..5589
/gene="FRDA"
/number=5b
3'UTR 5344..5589
/gene="FRDA"
regulatory 5565..5569
/regulatory_class="polyA_signal_sequence"
/gene="FRDA"
BASE COUNT 1304 a 1154 c 1276 g 1336 t
ORIGIN
1 caagcctggg cgacagagcg agctccgtcn caaccaatna accaatcaat aaaatctann
61 aacaatattt attgtgcact taacaggaac atgccctgtc caaaaaaaac tttacagggc
121 ttaactcatt ttatccttac cacaatccta tgaagtagga acttttataa aacgcatttt
181 ataaacaagg cacagagagg ttaattaact tgccctctgg tcacacagct aggaagtggg
241 cagagtacag atttacacaa ggcatccgtc tcctggcccc acatacccaa ctgctgtaaa
301 cccataccgg cggccaagca gcctcaattt gtgcatgcac ccacttccca gcaagacagc
361 agctcccaag ttcctcctgt ttagaatttt agaagcggcg ggccaccagg ctgcagtctc
421 ccttgggtca ggggtcctgg ttgcactccg tgctttgcac aaagcaggct ctccattttt
481 gttaaatgca cgaatagtgc taagctggga agttcttcct gaggtctaac ctctagctgc
541 tcccccacag aagagtgcct gcggccagtg gccaccaggg gtcgccgcag cacccagcgc
601 tggagggcgg agcgggcggc agacccggag cagcatgtgg actctcgggc gccgcgcagt
661 agccggcctc ctggcgtcac ccagcccggc ccaggcccag accctcaccc gggtcccgcg
721 gccggcagag ttggccccac tctgcggccg ccgtggcctg cgcaccgaca tcgatgcgac
781 ctgcacgccc cgccgngcag taagtatccg cgccgggaac agccgcgggc cgcacgccgy
841 gggccgcacg ccgcacgcct gcgcagggag gcgccgcgca cgccggggtc gctccgggta
901 cgcgcgctgg actagctcac cccgctcctt ctcagggtgg cccggcggaa gcggccttgc
961 aactcccttc tctggttctc ccggttgcat ttacactggc ttctgctttc cgaaggaaaa
1021 ggggacattt tgtcctgcgg tgcgactgcg ggtcaaggca cgggcgaagg cagggcaggc
1081 tggtggaggg gaccggttcc gaggggtgtg cggctgtctc catgcttgtc acttctctgc
1141 gataacttgt ttcagtaata ttaatagatg gtatctgcta gtatatacat acacataatg
1201 tgtgtgtctg tgtgtatctg tatatagcgt gtgtgttgtg tgtgtgtgtt tgcgcgcacg
1261 ggcgcgcgca cacctaatat tttcaaggct ggattttttt gaacgaaatg ctttcctgga
1321 acgaggtgaa actttcagag ctgcagaata gctagagcag caggggccct ggcttttgga
1381 aactgacccg acctttattc cagattctgc cccactccgc agagctgtgt gaccttgggg
1441 gattccccta acctctctga gacgtggctt tgttttctgt agggagaaga taaaggtgac
1501 gcccattttg cggacctggt gtgaggatta aatgggaata acatagataa agtcttcaga
1561 acttcaaatt agttcccctt tcttcctttg gggggtacaa agaaatatct gacccagtta
1621 cgccacggct tgaaaggagg aaacccaaag aatggctgtg gggatgagga agattcctca
1681 aggggaggac atggtattta atgagggtct tgaagatgcc aaggaagtgg tagagggtgt
1741 ttcacgagga gggatccgtc tgggcaaagg ccaggaaggc ggaaggggat cccttccgag
1801 tggctggtac gccgcctgta ntatgggaga ggatcccttc agagtggctg gtacgccgca
1861 tgtattaggg gagatgaaag aggcaggcca cgtccaagcc atatttgtgt tgctctccgg
1921 agtttgtact ttaggcttaa acttcccaca cgtgttattt ggcccacatt gtgtttgaag
1981 aaactttggg attggttgcc agtgcttaaa agttaggact tagaaaatgg atttcctggc
2041 aggacgcggt ggctcatgcc cataatctca gcactttggg aggcctagga aggtggatca
2101 cctgaggtcc ggagttcaag actaacctgg ccaacatggt gaaacccagt atctactaaa
2161 aaatacaaaa aaaaaaaaaa aaaagaagaa gaagaagaag aagaagaaga aaataaagaa
2221 aagttagccg ggcgtggtgt cgcgcgcctg taatcccagc tactccagag gctgcggcag
2281 gagaatcgct tgagcccggg aggcagaggt tgcattaagc caagatcgcc caatgcactc
2341 cggcctgggc gacagagcaa gctccgtctc aaaaaataat aataataaat aaaaataaaa
2401 aataaaatgg atttcccagc atctctggaa aaataggcaa gtgtggccat gatggtcctt
2461 agatcnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2521 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnaattt actccgaaac
2581 tagcttgggt gaggggtaca aagcatcctg cctttcttta aaagtgctgc ttccccttgg
2641 aagtagaaag tggacacttt tataaggtaa ggggggaagt gtgcaagggc aagtgggggg
2701 gtccctctgc tagttccgtg catactctac aggacagttg acttggcacc ttcctggtta
2761 gtaataagct gtagcagtgg ccaagtgggc atgctttcag tatgccctcc cagtgaatga
2821 aagtcctgag gcaaccccca agggtggaag tgccaggcca ccacccactg gaggtgaaag
2881 ttccgtgatg ggtttgcttt ggtctgcgaa tctactgtca tgtggagaga tctgtgctct
2941 ggaagagcat acagttagaa aagcttgccc tgaagggaat gtatggtgaa ggggaggtga
3001 aaggttatat ttgcatttct gaagggctaa gtaggaaacc gggaaccagg ggagaggaga
3061 agagaagaga ggataatttt ttttaagaaa agcaacatat tccctttttc ttagaaaaaa
3121 tggagcactc ggttacaggc actcgaatgt agaagtagca atatataaat tatgcattaa
3181 tgggttataa ttcactgaaa aatagtaacg tacttcttaa ctttggcttt cagagttcga
3241 accaacgtgg cctcaaccag atttggaatg tcaaaaagca gagtgtctat ttgatgaatt
3301 tgaggaaatc tggaactttg ggccacccag ggtaagataa agcancttnc acgtgatagg
3361 tatcttcctc tntccttccc tgcctctccc attagaacct ggttttcttt ctgagcagca
3421 acaatnttag gcatctttcc atgtgactga gtatccacca cattattttt aatgaaatag
3481 tattagattg catggatgtg acataatcca tttaacngat cncctactgt tggacattca
3541 ggttgttttc agagtttnat attattttat ttaataccct aatagttaga gcaggccatg
3601 cttntnttac aaataggacc caaatattta atagctcaaa ccaataacgg tntgtgtcct
3661 cctctctggg cagtacaggg ttggcatacc tctgaagtga ttagggncta cactcattcn
3721 agcttccagt tggccttatc tgtcagtgcc tactnnnnnn nnnnnnnnnn nnnnnnnnnn
3781 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3841 nnnnnnnnnn nnnnaaaatg gaagcatttg gtaatcatgt ttgggttttg tgcttcctct
3901 gcagctctct agatgagacc acctatgaaa gactagcaga ggaaacgctg gactctttag
3961 cagagttttt tgaagacctt gcagacaagc catacacgtt tgaggactat gatgtctcct
4021 ttggggtacc tcttgacttc ttttattttt ctgtttcccc ctctaagaat tttagttcac
4081 tnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
4141 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn naagcaatga tgacaaagtg
4201 ctaacttttt cttgttttaa tttctttatg ctttttttcc acctaatccc ctagagtggt
4261 gtcttaactg tcaaactggg tggagatcta ggaacctatg tgatcaacaa gcagacgcca
4321 aacaagcaaa tctggctatc ttctccatcc aggtatgtag gtatgttcag aagtcaacat
4381 atgtaattct taaagacttc cgaaatgtga cattgtggac cannnnnnnn nnnnnnnnnn
4441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
4501 nnnnnnnnnn nnnnnnnnnn nntcatctga agggctgtgc tgtggaatta ctatgcattt
4561 gttttgtctt ccagtggacc taagcgttat gactggactg ggaaaaactg ggtgttctcc
4621 cacgacggcg tgtccctcca tgagctgctg gccgcagagc tcactaaagc cttaaaaacc
4681 aaactggact tgtcttggtt ggcctattcc ggaaaagatg cttgatgccc agccccgttt
4741 taaggacatt aaaagctatc aggccaagac cccagcttca ttatgcagct gaggtgtgtt
4801 ttttgttgtt gttgttgttt atttttttta ttcctgcttt tgaggacact tgggctatgt
4861 gtcacagctc tgtacaaaca atgtgttgcc tcctaccttg cccccaagtt ctgattttta
4921 atttctatgg aagatttttt ggattgtcgg atttcctccc tcacatgata ccccttatct
4981 tttataatgt cttatgccta tacctgaata taacaacctt taaaaaagca aaataataag
5041 aaggaaaaat tccaggaggg nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
5101 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
5161 cctaggaggt gtagcctggg aaccataggc aagaataatt aactcagctc ctcggttagt
5221 gcctcctcag ttcgagatgg aatttatttg caggcatggc tccttaatat gccaaaccca
5281 tgctcaagac atactccttc tcctggaagg ttaacgtggc tcctgtggct gttccatccc
5341 tgaggaaaag tgaggaccat gctctccaaa caggccatgt gctggactac ctctgtttct
5401 gtctcctggg attccaatca gcaagtgagc aacgaagcaa cccagacagt gtggttcata
5461 ggatggctgg gtaagtggct gtttgttttt tccttactgt ggatatgtat cagtgaagga
5521 atctgtagaa cattcttgat gggaacattt agtcatatca agtcaataaa ttaatgttta
5581 ggctgggac
//