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
//