3. Molekulare Medizin:
Analyse von Erbkrankheiten am Beispiel der cystischen Fibrose


ID   HSCFTRM    standard; mRNA; HUM; 6129 BP.
XX
AC   M28668;
XX
SV   M28668.1
XX
DT   01-FEB-1990 (Rel. 22, Created)
DT   02-JUL-1999 (Rel. 60, Last updated, Version 2)
XX
DE   Human cystic fibrosis mRNA, encoding a presumed transmembrane conductance
DE   regulator (CFTR).
XX
KW   cystic fibrosis; transmembrane conductance regulator.
XX
OS   Homo sapiens (human)
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; Homo.
XX
RN   [1]
RP   1-6129
RX   PUBMED; 2475911.
RA   Riordan J.R., Rommens J.M., Kerem B., Alon N., Rozmahel R., Grzelczak Z.,
RA   Zielenski J., Lok S., Plavsic N., Chou J.-L., Drumm M.L., Iannuzzi M.C.,
RA   Collins F.S., Tsui L.-C.;
RT   "Identification of the cystic fibrosis gene: cloning and characterization
RT   of complementary DNA.";
RL   Science 245(4922):1066-1073(1989).
XX
DR   GDB; GDB:120584.
DR   GDB; GDB:674897.
DR   GDB; GDB:9873483.
DR   TRANSFAC; R04501; HS$CFTR_01.
XX
CC   A three base-pair deletion spanning positions 1654-1656 is observed
CC   in cDNAs from cystic fibrosis patients.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..6129
FT                   /db_xref="taxon:9606"
FT                   /mol_type="mRNA"
FT                   /organism="Homo sapiens"
FT   CDS             133..4575
FT                   /codon_start=1
FT                   /db_xref="GOA:P13569"
FT                   /db_xref="Genew:1884"
FT                   /db_xref="PDB:1NBD"
FT                   /db_xref="PDB:1XMI"
FT                   /db_xref="PDB:1XMJ"
FT                   /db_xref="UniProt/Swiss-Prot:P13569"
FT                   /note="cystic fibrosis transmembrane conductance regulator"
XX
SQ   Sequence 6129 BP; 1886 A; 1181 C; 1330 G; 1732 T; 0 other;
     aattggaagc aaatgacatc acagcaggtc agagaaaaag ggttgagcgg caggcaccca        60
     gagtagtagg tctttggcat taggagcttg agcccagacg gccctagcag ggaccccagc       120
     gcccgagaga ccatgcagag gtcgcctctg gaaaaggcca gcgttgtctc caaacttttt       180
     ttcagctgga ccagaccaat tttgaggaaa ggatacagac agcgcctgga attgtcagac       240
     atataccaaa tcccttctgt tgattctgct gacaatctat ctgaaaaatt ggaaagagaa       300
     tgggatagag agctggcttc aaagaaaaat cctaaactca ttaatgccct tcggcgatgt       360
     tttttctgga gatttatgtt ctatggaatc tttttatatt taggggaagt caccaaagca       420
     gtacagcctc tcttactggg aagaatcata gcttcctatg acccggataa caaggaggaa       480
     cgctctatcg cgatttatct aggcataggc ttatgccttc tctttattgt gaggacactg       540
     ctcctacacc cagccatttt tggccttcat cacattggaa tgcagatgag aatagctatg       600
     tttagtttga tttataagaa gactttaaag ctgtcaagcc gtgttctaga taaaataagt       660
     attggacaac ttgttagtct cctttccaac aacctgaaca aatttgatga aggacttgca       720
     ttggcacatt tcgtgtggat cgctcctttg caagtggcac tcctcatggg gctaatctgg       780
     gagttgttac aggcgtctgc cttctgtgga cttggtttcc tgatagtcct tgcccttttt       840
     caggctgggc tagggagaat gatgatgaag tacagagatc agagagctgg gaagatcagt       900
     gaaagacttg tgattacctc agaaatgatt gaaaatatcc aatctgttaa ggcatactgc       960
     tgggaagaag caatggaaaa aatgattgaa aacttaagac aaacagaact gaaactgact      1020
     cggaaggcag cctatgtgag atacttcaat agctcagcct tcttcttctc agggttcttt      1080
     gtggtgtttt tatctgtgct tccctatgca ctaatcaaag gaatcatcct ccggaaaata      1140
     ttcaccacca tctcattctg cattgttctg cgcatggcgg tcactcggca atttccctgg      1200
     gctgtacaaa catggtatga ctctcttgga gcaataaaca aaatacagga tttcttacaa      1260
     aagcaagaat ataagacatt ggaatataac ttaacgacta cagaagtagt gatggagaat      1320
     gtaacagcct tctgggagga gggatttggg gaattatttg agaaagcaaa acaaaacaat      1380
     aacaatagaa aaacttctaa tggtgatgac agcctcttct tcagtaattt ctcacttctt      1440
     ggtactcctg tcctgaaaga tattaatttc aagatagaaa gaggacagtt gttggcggtt      1500
     gctggatcca ctggagcagg caagacttca cttctaatga tgattatggg agaactggag      1560
     ccttcagagg gtaaaattaa gcacagtgga agaatttcat tctgttctca gttttcctgg      1620
     attatgcctg gcaccattaa agaaaatatc atctttggtg tttcctatga tgaatataga      1680
     tacagaagcg tcatcaaagc atgccaacta gaagaggaca tctccaagtt tgcagagaaa      1740
     gacaatatag ttcttggaga aggtggaatc acactgagtg gaggtcaacg agcaagaatt      1800
     tctttagcaa gagcagtata caaagatgct gatttgtatt tattagactc tccttttgga      1860
     tacctagatg ttttaacaga aaaagaaata tttgaaagct gtgtctgtaa actgatggct      1920
     aacaaaacta ggattttggt cacttctaaa atggaacatt taaagaaagc tgacaaaata      1980
     ttaattttga atgaaggtag cagctatttt tatgggacat tttcagaact ccaaaatcta      2040
     cagccagact ttagctcaaa actcatggga tgtgattctt tcgaccaatt tagtgcagaa      2100
     agaagaaatt caatcctaac tgagacctta caccgtttct cattagaagg agatgctcct      2160
     gtctcctgga cagaaacaaa aaaacaatct tttaaacaga ctggagagtt tggggaaaaa      2220
     aggaagaatt ctattctcaa tccaatcaac tctatacgaa aattttccat tgtgcaaaag      2280
     actcccttac aaatgaatgg catcgaagag gattctgatg agcctttaga gagaaggctg      2340
     tccttagtac cagattctga gcagggagag gcgatactgc ctcgcatcag cgtgatcagc      2400
     actggcccca cgcttcaggc acgaaggagg cagtctgtcc tgaacctgat gacacactca      2460
     gttaaccaag gtcagaacat tcaccgaaag acaacagcat ccacacgaaa agtgtcactg      2520
     gcccctcagg caaacttgac tgaactggat atatattcaa gaaggttatc tcaagaaact      2580
     ggcttggaaa taagtgaaga aattaacgaa gaagacttaa aggagtgcct ttttgatgat      2640
     atggagagca taccagcagt gactacatgg aacacatacc ttcgatatat tactgtccac      2700
     aagagcttaa tttttgtgct aatttggtgc ttagtaattt ttctggcaga ggtggctgct      2760
     tctttggttg tgctgtggct ccttggaaac actcctcttc aagacaaagg gaatagtact      2820
     catagtagaa ataacagcta tgcagtgatt atcaccagca ccagttcgta ttatgtgttt      2880
     tacatttacg tgggagtagc cgacactttg cttgctatgg gattcttcag aggtctacca      2940
     ctggtgcata ctctaatcac agtgtcgaaa attttacacc acaaaatgtt acattctgtt      3000
     cttcaagcac ctatgtcaac cctcaacacg ttgaaagcag gtgggattct taatagattc      3060
     tccaaagata tagcaatttt ggatgacctt ctgcctctta ccatatttga cttcatccag      3120
     ttgttattaa ttgtgattgg agctatagca gttgtcgcag ttttacaacc ctacatcttt      3180
     gttgcaacag tgccagtgat agtggctttt attatgttga gagcatattt cctccaaacc      3240
     tcacagcaac tcaaacaact ggaatctgaa ggcaggagtc caattttcac tcatcttgtt      3300
     acaagcttaa aaggactatg gacacttcgt gccttcggac ggcagcctta ctttgaaact      3360
     ctgttccaca aagctctgaa tttacatact gccaactggt tcttgtacct gtcaacactg      3420
     cgctggttcc aaatgagaat agaaatgatt tttgtcatct tcttcattgc tgttaccttc      3480
     atttccattt taacaacagg agaaggagaa ggaagagttg gtattatcct gactttagcc      3540
     atgaatatca tgagtacatt gcagtgggct gtaaactcca gcatagatgt ggatagcttg      3600
     atgcgatctg tgagccgagt ctttaagttc attgacatgc caacagaagg taaacctacc      3660
     aagtcaacca aaccatacaa gaatggccaa ctctcgaaag ttatgattat tgagaattca      3720
     cacgtgaaga aagatgacat ctggccctca gggggccaaa tgactgtcaa agatctcaca      3780
     gcaaaataca cagaaggtgg aaatgccata ttagagaaca tttccttctc aataagtcct      3840
     ggccagaggg tgggcctctt gggaagaact ggatcaggga agagtacttt gttatcagct      3900
     tttttgagac tactgaacac tgaaggagaa atccagatcg atggtgtgtc ttgggattca      3960
     ataactttgc aacagtggag gaaagccttt ggagtgatac cacagaaagt atttattttt      4020
     tctggaacat ttagaaaaaa cttggatccc tatgaacagt ggagtgatca agaaatatgg      4080
     aaagttgcag atgaggttgg gctcagatct gtgatagaac agtttcctgg gaagcttgac      4140
     tttgtccttg tggatggggg ctgtgtccta agccatggcc acaagcagtt gatgtgcttg      4200
     gctagatctg ttctcagtaa ggcgaagatc ttgctgcttg atgaacccag tgctcatttg      4260
     gatccagtaa cataccaaat aattagaaga actctaaaac aagcatttgc tgattgcaca      4320
     gtaattctct gtgaacacag gatagaagca atgctggaat gccaacaatt tttggtcata      4380
     gaagagaaca aagtgcggca gtacgattcc atccagaaac tgctgaacga gaggagcctc      4440
     ttccggcaag ccatcagccc ctccgacagg gtgaagctct ttccccaccg gaactcaagc      4500
     aagtgcaagt ctaagcccca gattgctgct ctgaaagagg agacagaaga agaggtgcaa      4560
     gatacaaggc tttagagagc agcataaatg ttgacatggg acatttgctc atggaattgg      4620
     agctcgtggg acagtcacct catggaattg gagctcgtgg aacagttacc tctgcctcag      4680
     aaaacaagga tgaattaagt ttttttttaa aaaagaaaca tttggtaagg ggaattgagg      4740
     acactgatat gggtcttgat aaatggcttc ctggcaatag tcaaattgtg tgaaaggtac      4800
     ttcaaatcct tgaagattta ccacttgtgt tttgcaagcc agattttcct gaaaaccctt      4860
     gccatgtgct agtaattgga aaggcagctc taaatgtcaa tcagcctagt tgatcagctt      4920
     attgtctagt gaaactcgtt aatttgtagt gttggagaag aactgaaatc atacttctta      4980
     gggttatgat taagtaatga taactggaaa cttcagcggt ttatataagc ttgtattcct      5040
     ttttctctcc tctccccatg atgtttagaa acacaactat attgtttgct aagcattcca      5100
     actatctcat ttccaagcaa gtattagaat accacaggaa ccacaagact gcacatcaaa      5160
     atatgcccca ttcaacatct agtgagcagt caggaaagag aacttccaga tcctggaaat      5220
     cagggttagt attgtccagg tctaccaaaa atctcaatat ttcagataat cacaatacat      5280
     cccttacctg ggaaagggct gttataatct ttcacagggg acaggatggt tcccttgatg      5340
     aagaagttga tatgcctttt cccaactcca gaaagtgaca agctcacaga cctttgaact      5400
     agagtttagc tggaaaagta tgttagtgca aattgtcaca ggacagccct tctttccaca      5460
     gaagctccag gtagagggtg tgtaagtaga taggccatgg gcactgtggg tagacacaca      5520
     tgaagtccaa gcatttagat gtataggttg atggtggtat gttttcaggc tagatgtatg      5580
     tacttcatgc tgtctacact aagagagaat gagagacaca ctgaagaagc accaatcatg      5640
     aattagtttt atatgcttct gttttataat tttgtgaagc aaaatttttt ctctaggaaa      5700
     tatttatttt aataatgttt caaacatata ttacaatgct gtattttaaa agaatgatta      5760
     tgaattacat ttgtataaaa taatttttat atttgaaata ttgacttttt atggcactag      5820
     tatttttatg aaatattatg ttaaaactgg gacaggggag aacctagggt gatattaacc      5880
     aggggccatg aatcaccttt tggtctggag ggaagccttg gggctgatcg agttgttgcc      5940
     cacagctgta tgattcccag ccagacacag cctcttagat gcagttctga agaagatggt      6000
     accaccagtc tgactgtttc catcaagggt acactgcctt ctcaactcca aactgactct      6060
     taagaagact gcattatatt tattactgta agaaaatatc acttgtcaat aaaatccata      6120
     catttgtgt                                                              6129
//


08 September 2008