GenBank-Updates@genbank.bio.net (08/17/90)
LOCUS HUMCINHA 5003 bp ds-DNA PRI 17-AUG-1990 DEFINITION Human complement component C1 inhibitor gene, exons 3 and 4. ACCESSION M30688 KEYWORDS Alu repetitive sequence; complement component C1 inhibitor. SOURCE Human DNA, clone 6d. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 5003) AUTHORS Stoppa-Lyonnet,D., Carter,P.E., Meo,T. and Tosi,M. TITLE Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87, 1551-1555 (1990) STANDARD full staff_entry COMMENT Draft entry and computer-readable sequence for [1] kindly submitted by M.Tosi, 13-DEC-1989. FEATURES from to/span description pept / 1 334 C1 inhibitor, exon 3 (AA at 2) /nomgen="APY" /map="11q12" /hgml_locus_uid="LV0168A" 2111 / 2246 C1 inhibitor, exon 4 pre-msg < 1 > 5003 C1 inhibitor mRNA and introns IVS 335 2110 C1 inhibitor intron A (no splice consensus) IVS 2247 > 5003 C1 inhibitor intron B rpt 750 1042 Alu repeat rpt 1201 1552 Alu repeat rpt 1681 1957 Alu repeat rpt 2557 2842 Alu repeat rpt 3033 3325 Alu repeat rpt 3341 3635 Alu repeat rpt 3636 3934 Alu repeat rpt 3938 4224 Alu repeat BASE COUNT 1484 a 1169 c 1268 g 1082 t ORIGIN 1 bp upstream of BamHI site. 1 ggatccagag agtttgcaag acagaggcga agggaaggtc gcaacaacag ttatctccaa 61 gatgctattc gttgaaccca tcctggaggt ttccagcttg ccgacaacca actcaacaac 121 caattcagcc accaaaataa cagctaatac cactgatgaa cccaccacac aacccaccac 181 agagcccacc acccaaccca ccatccaacc cacccaacca actacccagc tcccaacaga 241 ttctcctacc cagcccacta ctgggtcctt ctgcccagga cctgttactc tctgctctga 301 cttggagagt cattcaacag aggccgtgtt gggggatgct ttggtagatt tctccctgaa 361 gctctaccac gccttctcag caatgaagaa ggtggagacc aacatggcct tttccccatt 421 cagcatcgcc agcctcctta cccaggtcct gctcggtaag accctgcttg aattctctcc 481 aggtcatttg ttggacactc ccataagagt caccaatcca gacacttaca aagccatgcc 541 tctgggaaga agctgtaaaa atgggctatt atatattggg ggtggggtag agggatgtat 601 cttttcattc ttgaacattc catcatttca cagtgatgta ataggcacga ttgcttgtaa 661 aactctgtga ctatacaaga acatataaaa taaggtcgca gccactaacc atgtttcatg 721 gcaaggagag gtgataagaa agatgaaatt aggcgcagtg gctcacgcct gtaatcccag 781 cactttggga ggccaaggcg ggtggatcac ctgaggtcag gagttcaaga ccagcctggc 841 caacatggtg aaaccctgtc tctactaaaa atacaaaaat tatcagggag tggtggtgca 901 tgcctgtaat cccagctact tgggcagctg aggcaggaga atcgcttgaa cccaggaggt 961 ggaggttgca gtgagccgag accgcaccat tgcactacag tctgggtgac agagcgagac 1021 tctgtctcaa aaaaaaaaaa aattatcaga gatagaccta gagtagatgt ggttagtact 1081 gccttctagc tctgtgacct tgggcagatc actttaacct ctctgagcct tgagtcctct 1141 tgtgtaaaat agtgatgatg ctatctacct caaaagatta agaagcagaa agccaggccg 1201 ggtgcggtgg ttcacacctg taatcccagc attttaggag gccgaggagg gcagatcacg 1261 aggtcaggag ttcgagacca gcctgactaa catggtgaaa ccccgtctct actaaaaata 1321 aaaagaaatt agctaggcat ggtggtgcac acctgtaacc ccagctactc aggaggctga 1381 ggcaggagaa tcacttgaac acgggaggca gaggttgcag tgagccgaaa tcatgccact 1441 gcactccagc ctgggaagac tgagcaagac tctgtctcaa aaaaaaaaaa aagaagcagc 1501 ctagtgtctg acttagtggg aggtcaaaaa aatgtaaatc ctctgccatc ttgagggatt 1561 actgtcaagt cccatttggt aattacccta ggaatggcac aaacaaatta ctacaagcag 1621 tggggacaga gctattactc cccagagaga attctaaaaa ggctacagaa tctttcttgg 1681 ctgggcacgg tgactcacac ctataatcct ggcactttgg gaggccaagg caggagttca 1741 agaccagcct ggccaacatg ttgaaacccc atctctacta aaaatgcaaa aattagccag 1801 gcatagtgat gcatgcttat tgtcccagct acttgggagg cagaggtggg aggattgctt 1861 gaacctggag attcaagtga gctgagattg caccactgca ttccagcctg ggccaacaaa 1921 gcaagactct gtctcaaaaa aaaaaaaaaa aaaaaaagag agagattgag agaacattcc 1981 agctcagatg atctgtgatc ccctccaaag cagggaatac cctccattcc agcctggtcc 2041 ccaaccctca ttcccaagga aggcccccga ctcatcctgc aagtatcttt catctctgcc 2101 ctttgttgca ggggctgggg agaacaccaa aacaaacctg gagagcatcc tctcttaccc 2161 caaggacttc acctgtgtcc accaggccct gaagggcttc acgaccaaag gtgtcacctc 2221 agtctctcag atcttccaca gcccaggtga gtgcccagga atgggcagtg tctgcagagg 2281 agggtcctga gaggactctg aagggggacc cagcgctggg gaaagaaagg acagagggaa 2341 tgttggagct acagtatcag ggatggactg cagagcaggt gaagaccttg gcaggagcat 2401 taggtcactc caggaactag actgttcttc taatgagacc ttagacaagt ctctggcatt 2461 catcaactgc tttagaataa aaataaccgg gcaggtacag taaaatagtg atgatgctat 2521 ctacctcaaa agattaagaa gcagaaagcc aggctgggcg tggtggctca cacctgtaat 2581 cccagcactt tgggaggccg aggcaggtgg atcacgaggt caggggttcg agaccagcct 2641 gaccaacatg gtgaaaccct gtctctacta aaaatacaaa aattagctgg gcatggtggc 2701 gggcacctgt aatcccagct attcaggagg ctgaggcagg agaattgctt gaacctggga 2761 ggcggaggtt gcagtgagcc gagatgacgc cactgcactc cagcctgggc gacagagcaa 2821 gactccgtct caaaaaaaaa aacaaaaaca aaacaaaaac aaaaaaaaaa aacaaagaag 2881 gagaaagccg ggccgggcat ggtggttctc atctgtaagt tcaaggagtt gaaggtatgc 2941 taggactttt gggaggccaa ggcttcaaga ccagcctggg cagcatggcg aaacctgtct 3001 ccattaaaaa aaaaaaagtt gggggtacgg ctgggcatgg tggctcacac ctgtaatccc 3061 agcacttttg ggaggctgag gtgggtggaa cacctgaggt caggagttca agaccagcct 3121 ggccaacatg gcaaaaccct gtctctatta aaaacacaaa aattagcctg gcatggtggc 3181 aggcgcctat aatcccaact actcaggagg ctgaggcagg agaatcgctt gaacccaaga 3241 gagtgaaggt tgcagtgagc tgagatcatg ccacttcact ccagcctgag tgaaacagca 3301 aaactctgtc tcaaaaaaaa aaaaaggaag aaagaaaaaa ggccaggcgc ggtgactcac 3361 gcctgtaatc gcaacacttt ggcaggccga ggcaggcgat tcacaaggtc aggagttcga 3421 gaccagtctg gctaactaac atagtgaaac tccgtctcta ctgaaaatac aagaaattac 3481 cctggcatgg tggtgtgcac ctgtaatccc agctactcag gaggctgagg caggagaatc 3541 gcttgaacct gggaggcaga ggctgcagtg agccgagatc gcgccactgc actccagcct 3601 ggatgacaga gcaagactct gtctcaaaaa aaaaaggccg ggcgcggtgg ctcatgctgt 3661 aatcccagca ctttgggagg ctgaggcggg cggaccacga ggtcagaaga tcaagaccat 3721 cctggctaac aagatgaaac cctgtctctg ccaaaaaaat acaaaactta gccgggcatg 3781 gtggcaggcg cctgtggtcc caactacttg ggaggctgag gcaggagaat ggcatgaacc 3841 cgggaggcgg agcttgcagt gagccgagat tgcgccactg cactccagcc tgggcaacag 3901 agcgagacac catctcaaaa aaaaaaaaaa aaaatggggc gggcgggcca ggcgcggtgt 3961 ctcacacctg taatcccagc actttgggag gctgaggtgg gcggatcact tgaggtcagg 4021 agttcaagac cagcctggcc aacaccagga aaccctgtct ctgttaaaaa tacaaaaatt 4081 agccaggtgt ggtggcacgc gcctgtagtc ccagcaggag aataacttca acctgggaga 4141 cagaggttgc agtcagctga gatcgcacca ctgcattcca gcctgggtga cagaccgaga 4201 ctctgtctca aaaaaaaaaa aaaagaagaa tacccatatg cattcattaa tatatagggc 4261 tagagggcta gagagctata gacataaaat agacaaaaaa tttttttgct catttttggg 4321 tcaaaggagt cttgggactc taattctttt aatttttgtg ttatgtgaat ttgttatcat 4381 ttacatgtat tatgttatta agtaggtaat aatgataata ctaataataa acttacaaaa 4441 cgatccaatg tagttgtttt cagactttgt tcctcggagc cctaggactt tgcaaagctg 4501 tttctggagt catggtggga gtggggtgtg gggagcctga gcagtgggga agggttcacc 4561 acttcctgtg agagggaaac ggaccagctg ggctctgagc tccccaccca gcctcagcca 4621 gggtccattt tatattgtgg gcttcagaca tgcctttgtt tgaaagcagt tctgctgctt 4681 taaaatgttt gataaccatt gaactaatct acccacctcc ctttttaaaa aaaaaaggaa 4741 aacttttttt taagctgttt tttttgtttt ttgttttttt ttaaactgta aaaacaatac 4801 ttaggtctgg ctcagtgtgc ctgtaattcc aacactgaga ggctgaggta ggaggattgc 4861 ttgaggctag aatttcgaga ctagcctctg ggcaacatag acagacctca tctctacaaa 4921 aaattttaaa aattatccgg gtgtggtacg tgtctgtagt tccagctatg aaggactgag 4981 acgggaggat tgcttgagcc aag //