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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 |