EMBL: HSINS01
ID HSINS01 standard; DNA; HUM; 4044 BP.
XX
AC J00265;
XX
SV J00265.1
XX
DT 16-JUL-1988 (Rel. 16, Created)
DT 13-FEB-2001 (Rel. 66, Last updated, Version 6)
XX
DE Human insulin gene, complete cds.
XX
KW GC rich region; insulin; polymorphic variation; tandem repeat.
XX
OS Homo sapiens (human)
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Primates; Catarrhini; Hominidae; Homo.
XX
RN [1]
RP 2414-2610
RX MEDLINE; 80054779.
RX PUBMED; 503234.
RA Bell G.I., Swain W.F., Pictet R., Cordell B., Goodman H.M., Rutter W.J.;
RT "Nucleotide sequence of a cDNA clone encoding human preproinsulin";
RL Nature 282(5738):525-527(1979).
XX
RN [2]
RP 1925-3715
RX MEDLINE; 80120725.
RA Bell G.I., Pictet R.L., Rutter W.J., Cordell B., Tischer E., Goodman H.M.;
RT "Sequence of the human insulin gene";
RL Nature 284(5751):26-32(1980).
XX
RN [3]
RP 2411-2610
RX MEDLINE; 80147417.
RX PUBMED; 6927840.
RA Sures I., Goeddel D.V., Gray A., Ullrich A.;
RT "Nucleotide sequence of human preproinsulin complementary DNA";
RL Science 208(4439):57-59(1980).
XX
RN [4]
RP 1928-3651
RX MEDLINE; 80236313.
RA Ullrich A., Dull T.J., Gray A., Brosius J., Sures I.;
RT "Genetic variation in the human insulin gene";
RL Science 209(4456):612-615(1980).
XX
RN [5]
RP 1-4044
RX MEDLINE; 81053754.
RX PUBMED; 6253909.
RA Bell G.I., Pictet R., Rutter W.J.;
RT "Analysis of the regions flanking the human insulin gene and sequence of an
RT Alu family member";
RL Nucleic Acids Res. 8(18):4091-4109(1980).
XX
RN [6]
RP 1-2227
RX MEDLINE; 82125365.
RX PUBMED; 7035959.
RA Bell G.I., Selby M.J., Rutter W.J.;
RT "The highly polymorphic region near the human insulin gene is composed of
RT simple tandemly repeating sequences";
RL Nature 295(5844):31-35(1982).
XX
RN [7]
RP 917-1428, 1828-2185, 3615-4044
RX MEDLINE; 82221404.
RX PUBMED; 6283472.
RA Ullrich A., Dull T.J., Gray A., Philips J.A., Peter S.;
RT "Variation in the sequence and modification state of the human insulin gene
RT flanking regions";
RL Nucleic Acids Res. 10(7):2225-2240(1982).
XX
DR EPD; EP07109; HS_INS.
DR GDB; 119349; INS.
DR SWISS-PROT; P01308; INS_HUMAN.
DR TRANSFAC; R02707; HS$INS_02.
DR TRANSFAC; R02708; HS$INS_01.
DR TRANSFAC; R02709; HS$INS_03.
DR TRANSFAC; R02710; HS$INS_04.
DR TRANSFAC; R02712; HS$INS_06.
DR TRANSFAC; R04457; HS$INS_07.
XX
CC The human insulin gene region consists of three exons and two
CC introns coding for a signal peptide, a b-chain, a c-peptide, and an
CC a-chain. Present evidence favors a single insulin gene per haploid
CC genome; however, allelic and polymorphic variation are conspicuous.
CC The two major alleles studied thus far are denoted alpha and beta.
CC The 5' flanks for these are so different, largely because of the
CC presence of tandem repeats not found elsewhere in the human genome,
CC that separate entries have been made for this region (see J00266
CC and J00267). Thus differences in the first 2000 bases are not
CC annotated below. This sequence heterogeneity is generated largely,
CC though not exclusively, by a family of G+C-rich oligonucleotides
CC whose consensus sequence is ACAGGGGTGTGGGG. In the 5' sequence
CC reported below (from [5]), these occur most obviously between bases
CC 1340 and 1823. While the variation in the 5' flank may be
CC significant for gene expression, it has not been associated to date
CC with diabetic conditions. [4],[5],[6] discuss this variation in
CC detail. Variation in the form of base modification is observed in
CC the 3' flanking sequence ([6]). Conflicts between [5],[6] in this
CC region may ultimately prove to be polymorphic variations. This
CC sequence of 4044 bases (which most closely represents the beta
CC allele) was communicated with revisions by G.I.Bell. An additional
CC stretch of about 950 bases in the 3' flank, which has not been
CC published, is available through G.I.Bell or this library. See other
CC loci beginning and other loci with ins as the 4th-6th
CC characters of the locus name.
XX
FH Key Location/Qualifiers
FH
FT source 1..4044
FT /db_xref="taxon:9606"
FT /organism="Homo sapiens"
FT /dev_stage="foetus"
FT /tissue_type="liver"
FT /map="11p15.5"
FT exon 2186..2227
FT /note="G00-119-349"
FT /number=1
FT /gene="INS"
FT intron 2228..2406
FT /note="G00-119-349"
FT /number=1
FT /gene="INS"
FT variation 2401
FT /note="a in alpha-allele; t in beta allele ([4])"
FT /gene="INS"
FT CDS_pept join(2424..2610,3397..3542)
FT /codon_start=1
FT /db_xref="SWISS-PROT:P01308"
FT /note="precursor"
FT /gene="INS"
FT /product="insulin"
FT /protein_id="AAA59172.1"
FT /translation="MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGE
FT RGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPLALEGSLQKRGIVEQCCTSICSLYQ
FT LENYCN"
FT sig_peptide 2424..2495
FT /note="G00-119-349"
FT /gene="INS"
FT mat_peptide join(2496..2610,3397..3539)
FT /gene="INS"
FT /product="c peptide; G00-119-349"
FT intron 2611..3396
FT /note="G00-119-349"
FT /number=2
FT /gene="INS"
FT variation 3229
FT /note="c in alpha-allele; g in beta-allele ([4])"
FT /gene="INS"
FT exon 3397..>3615
FT /note="G00-119-349"
FT /number=2
FT /gene="INS"
FT variation 3551
FT /note="c in alpha-allele; t in beta-allele ([4])"
FT /gene="INS"
FT variation 3564
FT /note="c in alpha-allele; a in beta-allele ([4])"
FT /gene="INS"
XX
SQ Sequence 4044 BP; 680 A; 1239 C; 1417 G; 708 T; 0 other;
ctcgaggggc ctagacattg ccctccagag agagcaccca acaccctcca ggcttgaccg 60
gccagggtgt ccccttccta ccttggagag agcagcccca gggcatcctg cagggggtgc 120
tgggacacca gctggccttc aaggtctctg cctccctcca gccaccccac tacacgctgc 180
tgggatcctg gatctcagct ccctggccga caacactggc aaactcctac tcatccacga 240
aggccctcct gggcatggtg gtccttccca gcctggcagt ctgttcctca cacaccttgt 300
tagtgcccag cccctgaggt tgcagctggg ggtgtctctg aagggctgtg agcccccagg 360
aagccctggg gaagtgcctg ccttgcctcc ccccggccct gccagcgcct ggctctgccc 420
tcctacctgg gctcccccca tccagcctcc ctccctacac actcctctca aggaggcacc 480
catgtcctct ccagctgccg ggcctcagag cactgtggcg tcctggggca gccaccgcat 540
gtcctgctgt ggcatggctc agggtggaaa gggcggaagg gaggggtcct gcagatagct 600
ggtgcccact accaaacccg ctcggggcag gagagccaaa ggctgggtgt gtgcagagcg 660
gccccgagag gttccgaggc tgaggccagg gtgggacata gggatgcgag gggccggggc 720
acaggatact ccaacctgcc tgcccccatg gtctcatcct cctgcttctg ggacctcctg 780
atcctgcccc tggtgctaag aggcaggtaa ggggctgcag gcagcagggc tcggagccca 840
tgccccctca ccatgggtca ggctggacct ccaggtgcct gttctgggga gctgggaggg 900
ccggaggggt gtaccccagg ggctcagccc agatgacact atgggggtga tggtgtcatg 960
ggacctggcc aggagagggg agatgggctc ccagaagagg agtgggggct gagagggtgc 1020
ctggggggcc aggacggagc tgggccagtg cacagcttcc cacacctgcc cacccccaga 1080
gtcctgccgc cacccccaga tcacacggaa gatgaggtcc gagtggcctg ctgaggactt 1140
gctgcttgtc cccaggtccc caggtcatgc cctccttctg ccaccctggg gagctgaggg 1200
cctcagctgg ggctgctgtc ctaaggcagg gtgggaacta ggcagccagc agggagggga 1260
cccctccctc actcccactc tcccaccccc accaccttgg cccatccatg gcggcatctt 1320
gggccatccg ggactgggga caggggtcct ggggacaggg gtccggggac agggtcctgg 1380
ggacaggggt gtggggacag gggtctgggg acaggggtgt ggggacaggg gtgtggggac 1440
aggggtctgg ggacaggggt gtggggacag gggtccgggg acaggggtgt ggggacaggg 1500
gtctggggac aggggtgtgg ggacaggggt gtggggacag gggtctgggg acaggggtgt 1560
ggggacaggg gtcctgggga caggggtgtg gggacagggg tgtggggaca ggggtgtggg 1620
gacaggggtg tggggacagg ggtcctgggg ataggggtgt ggggacaggg gtgtggggac 1680
aggggtcccg gggacagggg tgtggggaca ggggtgtggg gacaggggtc ctggggacag 1740
gggtctgagg acaggggtgt gggcacaggg gtcctgggga caggggtcct ggggacaggg 1800
gtcctgggga caggggtctg gggacagcag cgcaaagagc cccgccctgc agcctccagc 1860
tctcctggtc taatgtggaa agtggcccag gtgagggctt tgctctcctg gagacatttg 1920
cccccagctg tgagcaggga caggtctggc caccgggccc ctggttaaga ctctaatgac 1980
ccgctggtcc tgaggaagag gtgctgacga ccaaggagat cttcccacag acccagcacc 2040
agggaaatgg tccggaaatt gcagcctcag cccccagcca tctgccgacc cccccacccc 2100
gccctaatgg gccaggcggc aggggttgac aggtagggga gatgggctct gagactataa 2160
agccagcggg ggcccagcag ccctcagccc tccaggacag gctgcatcag aagaggccat 2220
caagcaggtc tgttccaagg gcctttgcgt caggtgggct cagggttcca gggtggctgg 2280
accccaggcc ccagctctgc agcagggagg acgtggctgg gctcgtgaag catgtggggg 2340
tgagcccagg ggccccaagg cagggcacct ggccttcagc ctgcctcagc cctgcctgtc 2400
tcccagatca ctgtccttct gccatggccc tgtggatgcg cctcctgccc ctgctggcgc 2460
tgctggccct ctggggacct gacccagccg cagcctttgt gaaccaacac ctgtgcggct 2520
cacacctggt ggaagctctc tacctagtgt gcggggaacg aggcttcttc tacacaccca 2580
agacccgccg ggaggcagag gacctgcagg gtgagccaac cgcccattgc tgcccctggc 2640
cgcccccagc caccccctgc tcctggcgct cccacccagc atgggcagaa gggggcagga 2700
ggctgccacc cagcaggggg tcaggtgcac ttttttaaaa agaagttctc ttggtcacgt 2760
cctaaaagtg accagctccc tgtggcccag tcagaatctc agcctgagga cggtgttggc 2820
ttcggcagcc ccgagataca tcagagggtg ggcacgctcc tccctccact cgcccctcaa 2880
acaaatgccc cgcagcccat ttctccaccc tcatttgatg accgcagatt caagtgtttt 2940
gttaagtaaa gtcctgggtg acctggggtc acagggtgcc ccacgctgcc tgcctctggg 3000
cgaacacccc atcacgcccg gaggagggcg tggctgcctg cctgagtggg ccagacccct 3060
gtcgccagcc tcacggcagc tccatagtca ggagatgggg aagatgctgg ggacaggccc 3120
tggggagaag tactgggatc acctgttcag gctcccactg tgacgctgcc ccggggcggg 3180
ggaaggaggt gggacatgtg ggcgttgggg cctgtaggtc cacacccagt gtgggtgacc 3240
ctccctctaa cctgggtcca gcccggctgg agatgggtgg gagtgcgacc tagggctggc 3300
gggcaggcgg gcactgtgtc tccctgactg tgtcctcctg tgtccctctg cctcgccgct 3360
gttccggaac ctgctctgcg cggcacgtcc tggcagtggg gcaggtggag ctgggcgggg 3420
gccctggtgc aggcagcctg cagcccttgg ccctggaggg gtccctgcag aagcgtggca 3480
ttgtggaaca atgctgtacc agcatctgct ccctctacca gctggagaac tactgcaact 3540
agacgcagcc tgcaggcagc cccacacccg ccgcctcctg caccgagaga gatggaataa 3600
agcccttgaa ccagccctgc tgtgccgtct gtgtgtcttg ggggccctgg gccaagcccc 3660
acttcccggc actgttgtga gcccctccca gctctctcca cgctctctgg gtgcccacag 3720
gtgccaacgc cggccaggcc cagcatgcag tggctctccc caaagcggcc atgcctgttg 3780
gctgcctgct gcccccaccc tgtggctcag ggtccagtat gggagcttcg ggggtctctg 3840
aggggccagg gatggtgggg ccactgagaa gtgacttctt gttcagtagc tctggactct 3900
tggagtcccc agagaccttg ttcaggaaag ggaatgagaa cattccagca attttccccc 3960
cacctagccc tcccaggttc tatttttaga gttatttctg atggagtccc tgtggaggga 4020
ggaggctggg ctgagggagg gggt 4044
//
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