LOCUS HUMINSPR 3943 bp DNA linear HUM 25-OCT-1999 DEFINITION Human alpha-type insulin gene and 5' flanking polymorphic region. ACCESSION M10039 VERSION M10039.1 KEYWORDS insulin. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 134 to 2096) AUTHORS Owerbach,D. and Aagaard,L. TITLE Analysis of a 1963-bp polymorphic region flanking the human insulin gene JOURNAL Gene 32 (3), 475-479 (1984) PUBMED 6397408 REFERENCE 2 (sites) AUTHORS Cao,G.-J., Jiang,P., Feng,X.-L., Gu,X.-R. and Machatt,M.A. TITLE The mouse Col2a-1 gene is highly conserved and is linked to Int-1 o n Chromosome 15 JOURNAL Nature 1, 23-36 (1991) REFERENCE 3 (bases 1 to 3943) AUTHORS Owerbach,D. JOURNAL Unpublished COMMENT Draft entry and sequence in computer-readable form for [1],[2] kindly provided by D.Owerbach, 15-OCT-1985. The nucleotide sequence of a long polymorphic region (positions 134-2096) located 365 bp upstream of the human insulin gene is composed of 139 repeating sequences whose consensus structure is related to 'acaggggtgtgggg'. Expansion in the number of repeating sequences appears to have taken place through duplication and triplication of blocks of 8-10 repeats. However, ancestral polymorphic regions containing additions or deletions of 50 bp or more were not detected in two previous generations. The region 168-258 bp upstream from the transcription start site, containing essential control elements for efficient cell-specific expression, are the same. Thus linkage-disequilibrium between sequences in this control region and specific polymorphic regions is probably not the explanation for the disease association between the long polymorphic regions and atherosclerosis. FEATURES Location/Qualifiers source 1..3943 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="11" /map="11p15.5" /clone="lambda-HI-3" /sex="male" /tissue_type="lymphocyte" /dev_stage="30 year old" gene <1..23 /gene="S" exon <1..23 /gene="S" /experiment="experimental evidence, no additional details recorded" /note="transfer RNA-Lys ligase; f = pseudouridine" /citation=[2] gene 2461..3891 /gene="INS" mRNA join(2461..2502,2682..2885,3673..3891) /gene="INS" /product="insulin" CDS join(2699..2885,3673..3818) /gene="INS" /codon_start=1 /product="insulin" /protein_id="AAA59173.1" /translation="MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCG ERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPLALEGSLQKRGIVEQCCTSICSL YQLENYCN" BASE COUNT 628 a 868 c 1825 g 622 t ORIGIN 1 ctggggctgc tgtcctaagg cagggtggga actaggcagc cagcagggag gggacccctc 61 cctcactccc actctcccac ccccaccacc ttggcccatc catggcggca tcttgggcca 121 tccgggactg gggacagggg tcctggggac aggggtccgg ggacagggtc ctggggacag 181 gggtgtgagg acaggggtcc tggggacagg ggtgtgggga caggggtgtg aggacagggg 241 tcccggggac aggggtgtgg ggacaggggt gtggggatag gggtgtgggg acaggggtgt 301 ggggacaggg gtgtggggac aggggtctgg ggacaggggt gtggggatag gggtgtgggg 361 acaggggtgt ggggacaggg gtgtggggac aggggtctgg ggacaggggt gtggggacag 421 gggtccgggg acaggggtgt ggggacaggg gtgtggggac aggggtgtgg ggacaggggt 481 cccggggaca ggggtgtggg gacaggggtc tggggacagg ggtgtgggga taggggtgtg 541 gggacagggg tgtggggaca ggggtgtggg gacaggggtc tggggacagg ggtgtgggga 601 caggggtctg gggacagggg tgtggggaca ggggtcccgg ggacaggggt gtggggacag 661 gggtctgggg acaggggtgt ggggataggg gtgtggggac aggggtgtgg ggacaggggt 721 gtggggacag gggtctgggg acaggggtgt ggggacaggg gtgtggggac aggggtgtgg 781 ggacaggggt ccggggacag gggtgtgggg acaggggtct ggggacaggg gtgtggggac 841 aggggtgtgg ggacaggggt gtggggacag gggtctgggg acaggggtgt ggggacaggg 901 gtctggggac aggggtgtgg ggacaggggt gtggggacag gggtgtgggg acaggggtgt 961 ggggacaggg gtccggggac aggggtctgg ggacaggggt gtggggacag gggtgtgggg 1021 acaggggtgt ggggacaggg gtcccgggga caggggtgtg gggacagggg tctggggaca 1081 ggggtgtggg gataggggtg tgtggacagg ggtgtgggga taggggtgtg gggacagggg 1141 tcccggggac aggggtgtgg ggacaggggt gtggggatag gggtgtgggg acaggggtcc 1201 cggggacagg ggtgtgggga caggggtctg gggacagggg tgtggggaca ggggtgtggg 1261 gacaggggtc ccggggacag gggtgtgggg acaggggtct ggggacaggg gtgtggggat 1321 aggggtgtgg ggacaggggt gtggggatag gggtgtgggg acaggggtgt ggggacaggg 1381 gtcctgggga caggggtgtg gggacagggg tgtggggaca ggggtgtggg gacaggggtg 1441 tggggacagg ggtcccgggg acaggggtgt ggggacaggg gtgtggggac aggggtgtgg 1501 ggacaggggt ccggggacag gggtgtgggg acaggggtgt ggggacaggg ctgtggggac 1561 aggggtgtgg ggacaggggt cctggggaca ggggtctggg gacaggggtg tggggacagg 1621 ggtgtgggga caggggtccg gggacagggg tgtggggaca ggggtccggg gacaggggtg 1681 tggggacagg ggtgtgggga caggggtgtg gggacagggg tgtggggaca ggggtcctgg 1741 ggacaggggt ctggggacag gggtgtgggg acaggggtgt ggggacaggg gtcccgggga 1801 caggggtgtg gggacagggg tgtggggaca ggggtgtggg gacaggggtg tggggacagg 1861 ggtgtgggga caggggtccc ggggacaggg gtgtggggac aggggtgtgg ggacaggggt 1921 cctggggaca ggggtctggg gataggggtg tggggacagg ggtctgggga caggggtgtg 1981 gggacagggg tctggggata ggggtgtggg gacaggggtg tggggacagg ggtgtgggga 2041 caggggtgtg gggacagggg tgtggggaca ggggtcctgg ggacaggggt ctggggacag 2101 cagcgcaaag agccccgccc tgcagcctcc agctctcctg gtctaatgtg gaaagtggcc 2161 caggtgaggg ctttgctctc ctggagacat ttgcccccag ctgtgagcag ggacaggtct 2221 ggccaccggg cccctggtta agactctaat gacccgctgg tcctgaggaa gaggtgctga 2281 cgaccaagga gatcttccca cagacccagc accagggaaa tggtccggaa attgcagcct 2341 cagcccccag ccatctgccg acccccccac cccaggccct aatgggccag gcggcagggg 2401 ttgacaggta ggggagatgg gctctgagac tataaagcca gcgggggccc agcagccctc 2461 agccctccag gacaggctgc atcagaagag gccatcaagc aggtctgttc caagggcctt 2521 tgcgtcaggt gggctcaggg ttccagggtg gctggacccc aggccccagc tctgcagcag 2581 ggaggacgtg gctgggctcg tgaagcatgt gggggtgagc ccaggggccc caaggcaggg 2641 cacctggcct tcagcctgcc tcagccctgc ctgtctccca gatcactgtc cttctgccat 2701 ggccctgtgg atgcgcctcc tgcccctgct ggcgctgctg gccctctggg gacctgaccc 2761 agccgcagcc tttgtgaacc aacacctgtg cggctcacac ctggtggaag ctctctacct 2821 agtgtgcggg gaacgaggct tcttctacac acccaagacc cgccgggagg cagaggacct 2881 gcagggtgag ccaaccgccc attgctgccc ctggccgccc ccagccaccc cctgctcctg 2941 gcgctcccac ccagcatggg cagaaggggg caggaggctg ccacccagca gggggtcagg 3001 tgcacttttt taaaaagaag ttctcttggt cacgtcctaa aagtgaccag ctccctgtgg 3061 cccagtcaga atctcagcct gaggacggtg ttggcttcgg cagccccgag atacatcaga 3121 gggtgggcac gctcctccct ccactcgccc ctcaaacaaa tgccccgcag cccatttctc 3181 caccctcatt tgatgaccgc agattcaagt gttttgttaa gtaaagtcct gggtgacctg 3241 gggtcacagg gtgccccacg ctgcctgcct ctgggcgaac accccatcac gcccggagga 3301 gggcgtggct gcctgcctga gtgggccaga cccctgtcgc caggcctcac ggcagctcca 3361 tagtcaggag atggggaaga tgctggggac aggccctggg gagaagtact gggatcacct 3421 gttcaggctc ccactgtgac gctgccccgg ggcgggggaa ggaggtggga catgtgggcg 3481 ttggggcctg taggtccaca cccactgtgg gtgaccctcc ctctaacctg ggtccagccc 3541 ggctggagat gggtgggagt gtgacctagg gctggcgggc aggcgggcac tgtgtctccc 3601 tgactgtgtc ctcctgtgtc cctctgcctc gccgctgttc cggaacctgc tctgcgcggc 3661 acgtcctggc agtggggcag gtggagctgg gcgggggccc tggtgcaggc agcctgcagc 3721 ccttggccct ggaggggtcc ctgcagaagc gtggcattgt ggaacaatgc tgtaccagca 3781 tctgctccct ctaccagctg gagaactact gcaactagac gcagcccgca ggcagcccca 3841 cacccgccgc ctcctgcacc gagagagatg gaataaagcc cttgaaccag ccctgctgtg 3901 ccgtctgtgt gtcttggggg ccctgggcca agccccactt ccc //