From: GenBank-Updates@genbank.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: Human mutant keratin 1 gene, complete cds.
Date: 2 Sep 92 10:00:51 GMT
Distribution: bionet
Checksum: 23570    12

LOCUS       HUMKER1MUT   6005 bp ds-DNA             PRI       02-SEP-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 6005)
  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..2719,2858..2953,
                     3121..3285,3416..3541,4039..4259,4956..4990,5083..5507)
                     /product="keratin 1"
                     /gene="KRT1"
                     /codon_start=1
                     /translation="MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGG
                     RFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGG
                     GFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQS
                     LLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQV
                     DTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINK
                     RTNAENEFVTIKKDVDGAYMTKVDLQAKLDNLQQEIDFLTALYQAELSQMQTQISETN
                     VILSMDNNRSLDLDSIIAEVKAQNEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVR
                     NSKIEISELNRVIQRLRSEIDNVKKQISNLQQSISDAEQRGENALKDAKNKLNDLEDA
                     LQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPNVSVSVSTS
                     HTTISGGGSRGGGGGGYGSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGSSYGSGGGSY
                     GSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSGGRGSGGGSSGGSIGGRGSSSGGVK
                     SSGGSSSVRFVSTTYSGVTR"
     mRNA            join(731..1321,2127..2342,2660..2719,2858..2953,
                     3121..3285,3416..3541,4039..4259,4956..4990,5083..5941)
                     /gene="KRT1"
     5'UTR           684..730
     exon            731..1321
                     /number=1
                     /gene="KRT1"
     mutation        replace(1212,"c")
                     /phenotype="EHK (epidermolytic hyperkeratosis)"
     intron          1322..2126
                     /number=1
                     /gene="KRT1"
     unsure          replace(1480^1481,"''")
                     /note="approx. 350 bp of unsequenced intron 3 belong here"
     exon            2127..2342
                     /number=2
                     /gene="KRT1"
     intron          2343..2659
                     /number=2
                     /gene="KRT1"
     exon            2660..2719
                     /number=3
                     /gene="KRT1"
     intron          2720..2857
                     /number=3
                     /gene="KRT1"
     unsure          replace(2772^2773,"''")
                     /note="approx. 350 bp of unsequenced intron 1 belong here"
     exon            2858..2953
                     /number=4
                     /gene="KRT1"
     intron          2954..3120
                     /number=4
                     /gene="KRT1"
     exon            3121..3285
                     /number=5
                     /gene="KRT1"
     intron          3286..3415
                     /number=5
                     /gene="KRT1"
     exon            3416..3541
                     /number=6
                     /gene="KRT1"
     intron          3542..4038
                     /number=6
                     /gene="KRT1"
     unsure          replace(3753^3754,"''")
                     /note="approx. 220 bp of unsequenced intron 6 belong here"
     exon            4039..4259
                     /number=7
                     /gene="KRT1"
     intron          4260..4955
                     /number=7
                     /gene="KRT1"
     exon            4956..4990
                     /number=8
                     /gene="KRT1"
     intron          4991..5082
                     /number=8
                     /gene="KRT1"
     exon            5083..5941
                     /number=9
                     /gene="KRT1"
     3'UTR           5505..5941
     polyA_signal    5942..5947
                     /gene="KRT1"
BASE COUNT     1505 a   1285 c   1628 g   1587 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 ggtttttgct tggagaatcc ctcacaggta atgagaggga cctgccctgg
     2821 agagaacgtg ccttcatgat gtcccttgtt cctctaggat gtggatggtg cttatatgac
     2881 caaggtggac cttcaggcca aacttgacaa cttgcagcag gaaattgatt tccttacagc
     2941 actctaccaa gcagtaagtc ttccagtttc aaccaagttt atctaaatgg agagttttta
     3001 agccggaacc cacaacgatc tagaggaata gatatttatc ttttattccg gactgcttct
     3061 ctgtctaagt tgtttttgtt ttagtgctgt aagagtcact aacctattat tgtcttgcag
     3121 gagttgtctc agatgcagac tcaaatcagt gaaactaatg tcatcctctc tatggacaac
     3181 aaccgcagtc tcgacctgga cagcatcatt gctgaggtca aggcccagaa cgaggatata
     3241 gcccagaaga gcaaagctga ggccgagtcc ttgtaccaga gcaaggtgag tggctgaaag
     3301 cctagccagt ttccctgaaa tggcttgtct tgctatcctg tgttatctca tgtatgtgtg
     3361 cctgtgccat gctgagttct gcctacattt aacaaacgct atctaccatc tttagtatga
     3421 agagctgcag atcactgctg gcagacatgg ggatagtgtg agaaattcaa agatagaaat
     3481 ttctgagctg aatcgtgtga tccagagact tagatctgaa atcgacaatg tcaagaagca
     3541 ggtatgtgct ttctccttct accactcagc tgtatggaat gggggtaacc ctacaggtaa
     3601 agggcgagtg ctttcctagt tttgaatctt gcaattcatc ccaaggctac attattatcc
     3661 ctgttccttt tgtgatctat acggcagttt ccagaataga atagcagcaa ccatcatact
     3721 gggttcactt taaggaaatc tatgaaaaat gggagcgggg aatttcgggt tggagtattc
     3781 gaagaaagta ctgacttgta cgggattgaa cgaaacctta actcggaaac cgcagaggac
     3841 tgattgagat tctcccgtaa ggtcttttac gagaaagatc aacatggtaa atgtgttatc
     3901 tggaggtggg tgtgagatga cttaaggcca agtggttctg ttgaacacat tattggcctc
     3961 actggagtgg ggagaccaat tgggatggag gcctagtggg gaatgcatat tatgagaggg
     4021 tgtcatattc tttttcagat ctccaacttg cagcagtcca tcagtgatgc agagcagcgt
     4081 ggcgagaatg ccctcaagga tgccaagaac aagctgaatg acctggagga tgccctgcag
     4141 caggccaagg aagacctggc ccgcctgctg cgtgactacc aggagctgat gaacaccaag
     4201 ctggccctgg atctggagat tgccacctac aggaccctcc tggagggaga agaaagcagg
     4261 tgaggaaggg acgctgggag tactcgcccc cttcccctgg tccttccttc cttgccaccg
     4321 aatgatgatg aagaagccgc ccaccgaatg ccgcctgagc cgggaaaggg gaaatgaaaa
     4381 gaactcgagc cggaggaagg catccgactt taccttggga gccggagacc ccagccgaat
     4441 taattttttc ctccggcacc gtttaccata ccgacaagag accttgtgga gttaaaccac
     4501 ttaccttacc gggtcgaacc gcaaggtcag ctggtaagtg aagaagtgtg gctacgaaag
     4561 gtttccgacc gtgagattct cttgtagggc ggggcaagtt aaggtcgtgg aaacacatgg
     4621 ttcagttcct ggaattgtcc tggtgaacct tacggctccg ccaaatgttt ggttccaaag
     4681 caattccaca ggtgattcgg aaatctggca ttattggaat ttggctcaac cgcctgggag
     4741 ctgtgccctt gatgacccgg ctaaggccag ctggcgcaca tttgggtttg gcagggaaaa
     4801 aagggctggg cttgggtagg cctggagggg atgggattgg ttgcggttaa gtgcatgggg
     4861 aggcccagga tggggaaagt cttcaagatg gtgaagcggg gaatggggaa gcggtgctgg
     4921 agtgtcctga ggaattttct tattttctcc tacaggatgt ctggagaatg tgccccgaac
     4981 gtgagtgtgt gtaagtacaa gtcgatttct caggggcatg tgcaggcttt gttgggctgg
     5041 aaacggagtt gaggttgaaa ataactgagc ttcctcttgc agctgtgagc acaagccaca
     5101 ccaccatcag tggaggtggc agccgaggag gtggcggcgg tggctacggc tctggaggta
     5161 gcagctatgg ctccggaggt ggtagctatg gttctggagg tggcggcggc ggcggccgtg
     5221 gcagctatgg ctccggaggt agcagctacg gctccggagg tggcagctat ggctctggag
     5281 gtggcggcgg cggccatggc agctacggct ccggaagcag cagtgggggc tacagaggtg
     5341 gctctggagg cggcggcggc ggcagctctg gcggccgggg ctctggcggc gggagctctg
     5401 gaggctccat aggaggccgg ggatccagct ctgggggtgt caagtcctct ggtggcagtt
     5461 ccagcgtgag gtttgtttct accacttatt ccggagtaac cagataaaga gatgccctct
     5521 gtttcattag ctctagttct cccccagcat cactaacaaa tatgcttggc aagaccgagg
     5581 tcgatttgtc ccagccttac cggagaaaag agctatggtt agttacacta gctcatccta
     5641 ttcccccagc tctttctttt ctgctgtttc ccaatgaagt tttcagatca gtggcaatct
     5701 cagttccctt gctatgaccc tgctttgttc tttcccgaga aacagttcag cagtgaccac
     5761 cacccacatg acatttcaag caccacctta agccagccag agtaggacca gttagaccta
     5821 gggtgtggac agctccttgc atcttaacac tgtgctgttt tggttttgta cataaggtgt
     5881 aagcaagttg tttttctttt gtgaaatggt cttaaactcc ccatttcctt gttttgctgc
     5941 taataaactg catttgaaat tctccacgtc tcagtcgccc tcgttcacgc acacagccaa
     6001 cttgg
//