LOCUS HUMCFTRM 6129 bp mRNA linear HUM 27-APR-1993
DEFINITION Human cystic fibrosis mRNA, encoding a presumed transmembrane
conductance regulator (CFTR).
ACCESSION M28668
VERSION M28668.1
KEYWORDS cystic fibrosis; transmembrane conductance regulator.
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 6129)
AUTHORS Riordan,J.R., Rommens,J.M., Kerem,B., Alon,N., Rozmahel,R.,
Grzelczak,Z., Zielenski,J., Lok,S., Plavsic,N., Chou,J.-L.,
Drumm,M.L., Iannuzzi,M.C., Collins,F.S. and Tsui,L.-C.
TITLE Identification of the cystic fibrosis gene: cloning and
characterization of complementary DNA
JOURNAL Science 245 (4922), 1066-1073 (1989)
PUBMED 2475911
COMMENT Original source text: Human, cDNA to mRNA.
A three base-pair deletion spanning positions 1654-1656 is observed
in cDNAs from cystic fibrosis patients.
FEATURES Location/Qualifiers
source 1..6129
/db_xref="H-InvDB:HIT000195266"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
CDS 133..4575
/note="cystic fibrosis transmembrane conductance
regulator"
/codon_start=1
/protein_id="AAA35680.1"
/translation="MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVD
SADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLL
GRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI
YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWEL
LQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYC
WEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILR
KIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEV
VMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIER
GQLLAVAGSTGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIF
GVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDA
DLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILNEGSS
YFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTET
KKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVP
DSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAP
QANLTELDIYSRRLSQETGLEISEEINEEDLKECLFDDMESIPAVTTWNTYLRYITVH
KSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYY
VFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGI
LNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLR
AYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTAN
WFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWA
VNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIW
PSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLN
TEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD
EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDP
VTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSL
FRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL"
BASE COUNT 1886 a 1181 c 1330 g 1732 t
ORIGIN
1 aattggaagc aaatgacatc acagcaggtc agagaaaaag ggttgagcgg caggcaccca
61 gagtagtagg tctttggcat taggagcttg agcccagacg gccctagcag ggaccccagc
121 gcccgagaga ccatgcagag gtcgcctctg gaaaaggcca gcgttgtctc caaacttttt
181 ttcagctgga ccagaccaat tttgaggaaa ggatacagac agcgcctgga attgtcagac
241 atataccaaa tcccttctgt tgattctgct gacaatctat ctgaaaaatt ggaaagagaa
301 tgggatagag agctggcttc aaagaaaaat cctaaactca ttaatgccct tcggcgatgt
361 tttttctgga gatttatgtt ctatggaatc tttttatatt taggggaagt caccaaagca
421 gtacagcctc tcttactggg aagaatcata gcttcctatg acccggataa caaggaggaa
481 cgctctatcg cgatttatct aggcataggc ttatgccttc tctttattgt gaggacactg
541 ctcctacacc cagccatttt tggccttcat cacattggaa tgcagatgag aatagctatg
601 tttagtttga tttataagaa gactttaaag ctgtcaagcc gtgttctaga taaaataagt
661 attggacaac ttgttagtct cctttccaac aacctgaaca aatttgatga aggacttgca
721 ttggcacatt tcgtgtggat cgctcctttg caagtggcac tcctcatggg gctaatctgg
781 gagttgttac aggcgtctgc cttctgtgga cttggtttcc tgatagtcct tgcccttttt
841 caggctgggc tagggagaat gatgatgaag tacagagatc agagagctgg gaagatcagt
901 gaaagacttg tgattacctc agaaatgatt gaaaatatcc aatctgttaa ggcatactgc
961 tgggaagaag caatggaaaa aatgattgaa aacttaagac aaacagaact gaaactgact
1021 cggaaggcag cctatgtgag atacttcaat agctcagcct tcttcttctc agggttcttt
1081 gtggtgtttt tatctgtgct tccctatgca ctaatcaaag gaatcatcct ccggaaaata
1141 ttcaccacca tctcattctg cattgttctg cgcatggcgg tcactcggca atttccctgg
1201 gctgtacaaa catggtatga ctctcttgga gcaataaaca aaatacagga tttcttacaa
1261 aagcaagaat ataagacatt ggaatataac ttaacgacta cagaagtagt gatggagaat
1321 gtaacagcct tctgggagga gggatttggg gaattatttg agaaagcaaa acaaaacaat
1381 aacaatagaa aaacttctaa tggtgatgac agcctcttct tcagtaattt ctcacttctt
1441 ggtactcctg tcctgaaaga tattaatttc aagatagaaa gaggacagtt gttggcggtt
1501 gctggatcca ctggagcagg caagacttca cttctaatga tgattatggg agaactggag
1561 ccttcagagg gtaaaattaa gcacagtgga agaatttcat tctgttctca gttttcctgg
1621 attatgcctg gcaccattaa agaaaatatc atctttggtg tttcctatga tgaatataga
1681 tacagaagcg tcatcaaagc atgccaacta gaagaggaca tctccaagtt tgcagagaaa
1741 gacaatatag ttcttggaga aggtggaatc acactgagtg gaggtcaacg agcaagaatt
1801 tctttagcaa gagcagtata caaagatgct gatttgtatt tattagactc tccttttgga
1861 tacctagatg ttttaacaga aaaagaaata tttgaaagct gtgtctgtaa actgatggct
1921 aacaaaacta ggattttggt cacttctaaa atggaacatt taaagaaagc tgacaaaata
1981 ttaattttga atgaaggtag cagctatttt tatgggacat tttcagaact ccaaaatcta
2041 cagccagact ttagctcaaa actcatggga tgtgattctt tcgaccaatt tagtgcagaa
2101 agaagaaatt caatcctaac tgagacctta caccgtttct cattagaagg agatgctcct
2161 gtctcctgga cagaaacaaa aaaacaatct tttaaacaga ctggagagtt tggggaaaaa
2221 aggaagaatt ctattctcaa tccaatcaac tctatacgaa aattttccat tgtgcaaaag
2281 actcccttac aaatgaatgg catcgaagag gattctgatg agcctttaga gagaaggctg
2341 tccttagtac cagattctga gcagggagag gcgatactgc ctcgcatcag cgtgatcagc
2401 actggcccca cgcttcaggc acgaaggagg cagtctgtcc tgaacctgat gacacactca
2461 gttaaccaag gtcagaacat tcaccgaaag acaacagcat ccacacgaaa agtgtcactg
2521 gcccctcagg caaacttgac tgaactggat atatattcaa gaaggttatc tcaagaaact
2581 ggcttggaaa taagtgaaga aattaacgaa gaagacttaa aggagtgcct ttttgatgat
2641 atggagagca taccagcagt gactacatgg aacacatacc ttcgatatat tactgtccac
2701 aagagcttaa tttttgtgct aatttggtgc ttagtaattt ttctggcaga ggtggctgct
2761 tctttggttg tgctgtggct ccttggaaac actcctcttc aagacaaagg gaatagtact
2821 catagtagaa ataacagcta tgcagtgatt atcaccagca ccagttcgta ttatgtgttt
2881 tacatttacg tgggagtagc cgacactttg cttgctatgg gattcttcag aggtctacca
2941 ctggtgcata ctctaatcac agtgtcgaaa attttacacc acaaaatgtt acattctgtt
3001 cttcaagcac ctatgtcaac cctcaacacg ttgaaagcag gtgggattct taatagattc
3061 tccaaagata tagcaatttt ggatgacctt ctgcctctta ccatatttga cttcatccag
3121 ttgttattaa ttgtgattgg agctatagca gttgtcgcag ttttacaacc ctacatcttt
3181 gttgcaacag tgccagtgat agtggctttt attatgttga gagcatattt cctccaaacc
3241 tcacagcaac tcaaacaact ggaatctgaa ggcaggagtc caattttcac tcatcttgtt
3301 acaagcttaa aaggactatg gacacttcgt gccttcggac ggcagcctta ctttgaaact
3361 ctgttccaca aagctctgaa tttacatact gccaactggt tcttgtacct gtcaacactg
3421 cgctggttcc aaatgagaat agaaatgatt tttgtcatct tcttcattgc tgttaccttc
3481 atttccattt taacaacagg agaaggagaa ggaagagttg gtattatcct gactttagcc
3541 atgaatatca tgagtacatt gcagtgggct gtaaactcca gcatagatgt ggatagcttg
3601 atgcgatctg tgagccgagt ctttaagttc attgacatgc caacagaagg taaacctacc
3661 aagtcaacca aaccatacaa gaatggccaa ctctcgaaag ttatgattat tgagaattca
3721 cacgtgaaga aagatgacat ctggccctca gggggccaaa tgactgtcaa agatctcaca
3781 gcaaaataca cagaaggtgg aaatgccata ttagagaaca tttccttctc aataagtcct
3841 ggccagaggg tgggcctctt gggaagaact ggatcaggga agagtacttt gttatcagct
3901 tttttgagac tactgaacac tgaaggagaa atccagatcg atggtgtgtc ttgggattca
3961 ataactttgc aacagtggag gaaagccttt ggagtgatac cacagaaagt atttattttt
4021 tctggaacat ttagaaaaaa cttggatccc tatgaacagt ggagtgatca agaaatatgg
4081 aaagttgcag atgaggttgg gctcagatct gtgatagaac agtttcctgg gaagcttgac
4141 tttgtccttg tggatggggg ctgtgtccta agccatggcc acaagcagtt gatgtgcttg
4201 gctagatctg ttctcagtaa ggcgaagatc ttgctgcttg atgaacccag tgctcatttg
4261 gatccagtaa cataccaaat aattagaaga actctaaaac aagcatttgc tgattgcaca
4321 gtaattctct gtgaacacag gatagaagca atgctggaat gccaacaatt tttggtcata
4381 gaagagaaca aagtgcggca gtacgattcc atccagaaac tgctgaacga gaggagcctc
4441 ttccggcaag ccatcagccc ctccgacagg gtgaagctct ttccccaccg gaactcaagc
4501 aagtgcaagt ctaagcccca gattgctgct ctgaaagagg agacagaaga agaggtgcaa
4561 gatacaaggc tttagagagc agcataaatg ttgacatggg acatttgctc atggaattgg
4621 agctcgtggg acagtcacct catggaattg gagctcgtgg aacagttacc tctgcctcag
4681 aaaacaagga tgaattaagt ttttttttaa aaaagaaaca tttggtaagg ggaattgagg
4741 acactgatat gggtcttgat aaatggcttc ctggcaatag tcaaattgtg tgaaaggtac
4801 ttcaaatcct tgaagattta ccacttgtgt tttgcaagcc agattttcct gaaaaccctt
4861 gccatgtgct agtaattgga aaggcagctc taaatgtcaa tcagcctagt tgatcagctt
4921 attgtctagt gaaactcgtt aatttgtagt gttggagaag aactgaaatc atacttctta
4981 gggttatgat taagtaatga taactggaaa cttcagcggt ttatataagc ttgtattcct
5041 ttttctctcc tctccccatg atgtttagaa acacaactat attgtttgct aagcattcca
5101 actatctcat ttccaagcaa gtattagaat accacaggaa ccacaagact gcacatcaaa
5161 atatgcccca ttcaacatct agtgagcagt caggaaagag aacttccaga tcctggaaat
5221 cagggttagt attgtccagg tctaccaaaa atctcaatat ttcagataat cacaatacat
5281 cccttacctg ggaaagggct gttataatct ttcacagggg acaggatggt tcccttgatg
5341 aagaagttga tatgcctttt cccaactcca gaaagtgaca agctcacaga cctttgaact
5401 agagtttagc tggaaaagta tgttagtgca aattgtcaca ggacagccct tctttccaca
5461 gaagctccag gtagagggtg tgtaagtaga taggccatgg gcactgtggg tagacacaca
5521 tgaagtccaa gcatttagat gtataggttg atggtggtat gttttcaggc tagatgtatg
5581 tacttcatgc tgtctacact aagagagaat gagagacaca ctgaagaagc accaatcatg
5641 aattagtttt atatgcttct gttttataat tttgtgaagc aaaatttttt ctctaggaaa
5701 tatttatttt aataatgttt caaacatata ttacaatgct gtattttaaa agaatgatta
5761 tgaattacat ttgtataaaa taatttttat atttgaaata ttgacttttt atggcactag
5821 tatttttatg aaatattatg ttaaaactgg gacaggggag aacctagggt gatattaacc
5881 aggggccatg aatcaccttt tggtctggag ggaagccttg gggctgatcg agttgttgcc
5941 cacagctgta tgattcccag ccagacacag cctcttagat gcagttctga agaagatggt
6001 accaccagtc tgactgtttc catcaagggt acactgcctt ctcaactcca aactgactct
6061 taagaagact gcattatatt tattactgta agaaaatatc acttgtcaat aaaatccata
6121 catttgtgt
//