From: GenBank-Updates@genbank.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: Human mutant keratin 1 gene, complete cds.
Date: 14 Aug 92 10:00:34 GMT
Distribution: bionet
Checksum: 19169    12

LOCUS       HUMKER1MUT   6352 bp ds-DNA             PRI       14-AUG-1992
DEFINITION  Human mutant keratin 1 gene, complete cds.
ACCESSION   M98776
KEYWORDS    keratin 1.
SOURCE      Homo sapiens DNA.
  ORGANISM  Homo sapiens
            Eukaryota; Animalia; Chordata; Vertebrata; Mammalia; Theria;
            Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE   1  (bases 1 to 6352)
  AUTHORS   Chipev,C.C., Korge,B.P., Nedialka,M., Bale,S.J., DiGiovanna,J.J.,
            Compton,J.G. and Steinert,P.M.
  TITLE     A leucine to proline mutation in the H1 subdomain of keratin 1
            causes epidermolytic hyperkeratosis
  JOURNAL   Cell (1992) In press
  STANDARD  full staff_entry
FEATURES             Location/Qualifiers
     CDS             join(731..1321,2127..2342,2660..2719,3205..3300,
                     3468..3632,3763..3888,4386..4606,5303..5337,5430..5854)
                     /product="keratin 1"
                     /gene="KRT1"
                     /codon_start=1
                     /translation="MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGG
                     RFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGG
                     GFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQS
                     LLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQV
                     DTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINK
                     RTNAENEFVTIKKDVDGAYMTKVDLQAKLDNLQQEIDFLTALYQAELSQMQTQISETN
                     VILSMDNNRSLDLDSIIAEVKAQNEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVR
                     NSKIEISELNRVIQRLRSEIDNVKKQISNLQQSISDAEQRGENALKDAKNKLNDLEDA
                     LQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPNVSVSVSTS
                     HTTISGGGSRGGGGGGYGSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGSSYGSGGGSY
                     GSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSGGRGSGGGSSGGSIGGRGSSSGGVK
                     SSGGSSSVRFVSTTYSGVTR"
     mRNA            join(684..1321,2127..2342,2660..2719,3205..3300,
                     3468..3632,3763..3888,4386..4606,5303..5337,5430..6294)
                     /gene="KRT1"
     exon            684..1321
                     /number=1
                     /gene="KRT1"
     intron          1322..2126
                     /number=1
                     /gene="KRT1"
     exon            2127..2342
                     /number=2
                     /gene="KRT1"
     intron          2343..2659
                     /number=2
                     /gene="KRT1"
     exon            2660..2719
                     /number=3
                     /gene="KRT1"
     intron          2720..3204
                     /number=3
                     /gene="KRT1"
     exon            3205..3300
                     /number=4
                     /gene="KRT1"
     intron          3301..3467
                     /number=4
                     /gene="KRT1"
     exon            3468..3632
                     /number=5
                     /gene="KRT1"
     intron          3633..3762
                     /number=5
                     /gene="KRT1"
     exon            3763..3888
                     /number=6
                     /gene="KRT1"
     intron          3889..4385
                     /number=6
                     /gene="KRT1"
     exon            4386..4606
                     /number=7
                     /gene="KRT1"
     intron          4607..5302
                     /number=7
                     /gene="KRT1"
     exon            5303..5337
                     /number=8
                     /gene="KRT1"
     intron          5338..5429
                     /number=8
                     /gene="KRT1"
     exon            5430..6294
                     /number=9
                     /gene="KRT1"
     polyA_signal    6289..6294
                     /gene="KRT1"
BASE COUNT     1577 a   1356 c   1718 g   1701 t
ORIGIN
        1 aaaggaataa ctgagaaaca gagaaaaaaa atgtctctcc cttctggttc ttccagacca
       61 cccactcatc catcttgttc aatgacggct tctcttcctt taattaatca ctgtggtata
      121 tttataaagc ttatatttat gaaagactct ttaatttttt agttattaaa gccctttctc
      181 tttgtcaggt tgtaactgag tgagctctgg agtttggaaa gaagatctca gaaatgggcc
      241 agagagctcc ttctgagatc caagcacgga gaattgcacc tgctgagcat ggtaagagag
      301 tgtgcttggt agctcacaag ggcaaggtga gaatagaaac tttcatgcct ttttgatggg
      361 ggttatgaaa tcctaccaag aaacaccagg tatcagatgt ggggtcctgt tttcccaaag
      421 ccacaaatgc ttgaaggaag atcttgtgtg ataaaacaat taccacatga accaatcttg
      481 catgcacagc aattttgaga gcccatcctg ggagctaggt gtgtagtgtt tatcgtattg
      541 ttgaggctcg taaaaatctt gtatggctgc aggcaagcca aacccttgac aggcactgca
      601 tctccgctga ctctagaaga ccaagcccaa tttcttccct gtatataagg ggaagtctct
      661 atgcttgggg tagaggagtg tttagctcct tcccttactc taccttgctc ctacttttct
      721 ctaagtcaac atgagtcgac agtttagttc caggtctggg taccgaagtg gagggggctt
      781 cagctctggc tctgctggga tcatcaacta ccagcgcagg accaccagca gctccacacg
      841 ccgcagtgga ggaggtggtg ggagattttc aagctgtggt ggtggtggtg gtagctttgg
      901 tgctggtggt ggatttggaa gtcggagtct tgttaacctt ggtggcagta aaagcatctc
      961 cataagtgtg gctagaggag gtggacgtgg tagtggcttt ggtggtggtt atggtggtgg
     1021 tggctttggt ggtggtggct ttggtggtgg tggctttggt ggaggtggca ttgggggtgg
     1081 tggctttggt ggttttggca gtggtggtgg tggctttggt ggaggtggtt ttgggggtgg
     1141 tggatatggg ggtggttatg gtcctgtctg ccctcctggt ggcatacaag aagtcactat
     1201 caaccagagc cttcttcagc ccctcaatgt ggagattgac cctgagatcc aaaaggtgaa
     1261 gtctcgagaa agggagcaaa tcaagtcact caacaaccaa tttgcctcct tcattgacaa
     1321 ggtgagtttc tctctcattg cactggtagc tgcgccggtc cactcgggat cggtgcagtc
     1381 aaaacacacg caggtttgaa cctcaagttt ccacgtttac acgattaaaa ggatgttttg
     1441 cgaacggtca cctaaggagt acagttagta gtatgtctgc ggtcgcctaa ccgtgaaagg
     1501 gagatggtga gtgaaacatg agatgtgtgt tattgttagc agaaaacatg tggtcagtca
     1561 gtcagtgccg aacatctttt gctttcggaa gggagctctt cctttcttaa taatttacat
     1621 tggtacttgg atgaggacac gaggagaggg gcgaggggtt ttttagccaa atatttccaa
     1681 aaaccggccc aaaaacccgg ataacccatt ttttaatttt ggctaacata agggccaacc
     1741 agggaaccac aacaaaccaa aaccaagtta ggatttccgg caacctgaaa agggggccag
     1801 gccaaacccg gtttttgggt aataaaccta acaaaatttt ggaaggcaaa cctttaaata
     1861 ctagtgtacc taattccaaa accttatcgc cattaattcc gatgcccctt gccattggta
     1921 tttggttagg tactcccttc caagccctct ctgaattaac aggttgggtt ttattatgcg
     1981 gatggtatta acttggtcat cttcttccta tttctctgtc atggtcggag gatgggaatt
     2041 ggggttcctt tccaaatggg gcacggttct ccatggctat gagactccat ttatgcatca
     2101 ggagtaaagg ggtcttgtgt ttttaggtga ggttcctgga gcagcagaac caggtactgc
     2161 aaacaaaatg ggagctgctg cagcaggtag atacctccac tagaacccat aatttagagc
     2221 cctactttga gtcattcatc aacaatctcc gaagaagagt ggaccaactg aagagtgatc
     2281 aatctcggtt ggattcggaa ctgaagaaca tgcaggacat ggtggaggat taccggaaca
     2341 agtaagggac cctgtctggg cagttcttaa cttttgctgt aaaaaagagt tccaagaaaa
     2401 gtaataagct aagatcatga agcagcatgt actatgtctt ttcttaggtt agaggcacat
     2461 cagttcgaca ttttcagaaa tcttcatttt ctccggagac ggaaatagtc tagcggtttt
     2521 attgctcagt agcgagtaag caggccaata atgttccaag gttcataata agcaaggcag
     2581 caataggcaa tgcctccttt agtttagata ccgacttcag gtcttcctcc tctgactcca
     2641 aaagatcagc ttcctctagt atgaggatga aatcaacaag cggacaaatg cagagaatga
     2701 atttgtgacc atcaagaagg taagcaaatt ctgtaggacg gaactcacat ttgaaataaa
     2761 taagggaaga ggtgatttgg ccttgtttga agttcgtaat ctttgtggct gactctcgta
     2821 ttgaaattaa attaaggttg agggttttct tgatttacta gtgaaaagct agttcgtgat
     2881 atggagagcc gtgtagtaga ccttggggag tatatggagt ggcggctata ttttcacatc
     2941 atcatggacc ttgactgatt cgtgtacttg gcttctccgt atttccgcct accttactta
     3001 gtaagtggtg tggcggattc tcagcaagcc gtgcacactc ccttgatggt gctatccggg
     3061 cgactttaac gctaagctcc atcctgccct gggtaaaggc gcttgttgcc atgcaaacgt
     3121 ttttgcttgg agaatccctc acaggtaatg agagggacct gccctggaga gaacgtgcct
     3181 tcatgatgtc ccttgttcct ctaggatgtg gatggtgctt atatgaccaa ggtggacctt
     3241 caggccaaac ttgacaactt gcagcaggaa attgatttcc ttacagcact ctaccaagca
     3301 gtaagtcttc cagtttcaac caagtttatc taaatggaga gtttttaagc cggaacccac
     3361 aacgatctag aggaatagat atttatcttt tattccggac tgcttctctg tctaagttgt
     3421 ttttgtttta gtgctgtaag agtcactaac ctattattgt cttgcaggag ttgtctcaga
     3481 tgcagactca aatcagtgaa actaatgtca tcctctctat ggacaacaac cgcagtctcg
     3541 acctggacag catcattgct gaggtcaagg cccagaacga ggatatagcc cagaagagca
     3601 aagctgaggc cgagtccttg taccagagca aggtgagtgg ctgaaagcct agccagtttc
     3661 cctgaaatgg cttgtcttgc tatcctgtgt tatctcatgt atgtgtgcct gtgccatgct
     3721 gagttctgcc tacatttaac aaacgctatc taccatcttt agtatgaaga gctgcagatc
     3781 actgctggca gacatgggga tagtgtgaga aattcaaaga tagaaatttc tgagctgaat
     3841 cgtgtgatcc agagacttag atctgaaatc gacaatgtca agaagcaggt atgtgctttc
     3901 tccttctacc actcagctgt atggaatggg ggtaacccta caggtaaagg gcgagtgctt
     3961 tcctagtttt gaatcttgca attcatccca aggctacatt attatccctg ttccttttgt
     4021 gatctatacg gcagtttcca gaatagaata gcagcaacca tcatactggg ttcactttaa
     4081 ggaaatctat gaaaaatggg agcggggaat ttcgggttgg agtattcgaa gaaagtactg
     4141 acttgtacgg gattgaacga aaccttaact cggaaaccgc agaggactga ttgagattct
     4201 cccgtaaggt cttttacgag aaagatcaac atggtaaatg tgttatctgg aggtgggtgt
     4261 gagatgactt aaggccaagt ggttctgttg aacacattat tggcctcact ggagtgggga
     4321 gaccaattgg gatggaggcc tagtggggaa tgcatattat gagagggtgt catattcttt
     4381 ttcagatctc caacttgcag cagtccatca gtgatgcaga gcagcgtggc gagaatgccc
     4441 tcaaggatgc caagaacaag ctgaatgacc tggaggatgc cctgcagcag gccaaggaag
     4501 acctggcccg cctgctgcgt gactaccagg agctgatgaa caccaagctg gccctggatc
     4561 tggagattgc cacctacagg accctcctgg agggagaaga aagcaggtga ggaagggacg
     4621 ctgggagtac tcgccccctt cccctggtcc ttccttcctt gccaccgaat gatgatgaag
     4681 aagccgccca ccgaatgccg cctgagccgg gaaaggggaa atgaaaagaa ctcgagccgg
     4741 aggaaggcat ccgactttac cttgggagcc ggagacccca gccgaattaa ttttttcctc
     4801 cggcaccgtt taccataccg acaagagacc ttgtggagtt aaaccactta ccttaccggg
     4861 tcgaaccgca aggtcagctg gtaagtgaag aagtgtggct acgaaaggtt tccgaccgtg
     4921 agattctctt gtagggcggg gcaagttaag gtcgtggaaa cacatggttc agttcctgga
     4981 attgtcctgg tgaaccttac ggctccgcca aatgtttggt tccaaagcaa ttccacaggt
     5041 gattcggaaa tctggcatta ttggaatttg gctcaaccgc ctgggagctg tgcccttgat
     5101 gacccggcta aggccagctg gcgcacattt gggtttggca gggaaaaaag ggctgggctt
     5161 gggtaggcct ggaggggatg ggattggttg cggttaagtg catggggagg cccaggatgg
     5221 ggaaagtctt caagatggtg aagcggggaa tggggaagcg gtgctggagt gtcctgagga
     5281 attttcttat tttctcctac aggatgtctg gagaatgtgc cccgaacgtg agtgtgtgta
     5341 agtacaagtc gatttctcag gggcatgtgc aggctttgtt gggctggaaa cggagttgag
     5401 gttgaaaata actgagcttc ctcttgcagc tgtgagcaca agccacacca ccatcagtgg
     5461 aggtggcagc cgaggaggtg gcggcggtgg ctacggctct ggaggtagca gctatggctc
     5521 cggaggtggt agctatggtt ctggaggtgg cggcggcggc ggccgtggca gctatggctc
     5581 cggaggtagc agctacggct ccggaggtgg cagctatggc tctggaggtg gcggcggcgg
     5641 ccatggcagc tacggctccg gaagcagcag tgggggctac agaggtggct ctggaggcgg
     5701 cggcggcggc agctctggcg gccggggctc tggcggcggg agctctggag gctccatagg
     5761 aggccgggga tccagctctg ggggtgtcaa gtcctctggt ggcagttcca gcgtgaggtt
     5821 tgtttctacc acttattccg gagtaaccag ataaagagat gccctctgtt tcattagctc
     5881 tagttctccc ccagcatcac taacaaatat gcttggcaag accgaggtcg atttgtccca
     5941 gccttaccgg agaaaagagc tatggttagt tacactagct catcctattc ccccagctct
     6001 ttcttttctg ctgtttccca atgaagtttt cagatcagtg gcaatctcag ttcccttgct
     6061 atgaccctgc tttgttcttt cccgagaaac agttcagcag tgaccaccac ccacatgaca
     6121 tttcaagcac caccttaagc cagccagagt aggaccagtt agacctaggg tgtggacagc
     6181 tccttgcatc ttaacactgt gctgttttgg ttttgtacat aaggtgtaag caagttgttt
     6241 ttcttttgtg aaatggtctt aaactcccca tttccttgtt ttgctgctaa taaactgcat
     6301 ttgaaattct ccacgtctca gtcgccctcg ttcacgcaca cagccaactt gg
//