LOCUS AH005575 5007 bp DNA linear HUM 10-JUN-2016 DEFINITION Homo sapiens chromosome 1 3-hydroxy-3-methylglutaryl CoA synthase gene, complete cds; and microsatellite sequence. ACCESSION AH005575 U81851 U81852 U81853 U81854 U81855 U81856 U81857 U81858 U81859 U81860 VERSION AH005575.2 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 5007) AUTHORS Boukaftane,Y. and Mitchell,G.A. TITLE Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene JOURNAL Gene 195 (2), 121-126 (1997) PUBMED 9305755 REFERENCE 2 (bases 1 to 5007) AUTHORS Mitchell,G.A. TITLE Direct Submission JOURNAL Submitted (11-DEC-1996) Medical Genetics, Hospital Sainte-Justine 3175, Cote Sainte-Catherine Road, Montreal, Quebec H3T 1C5, Canada COMMENT On or before Jun 10, 2016 this sequence version replaced U81851.1, U81852.1, U81853.1, U81854.1, U81855.1, U81856.1, U81857.1, U81858.1, U81859.1, U81860.1, AH005575.1. FEATURES Location/Qualifiers source 1..5007 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /tissue_type="liver" /dev_stage="adult" source 1..1630 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="P1/1898RN4.5" /tissue_type="liver" /dev_stage="adult" source 1731..2250 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="P1/1898RN4.5" /tissue_type="liver" /dev_stage="adult" source 2351..2540 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="P1/1898RN4.5" /tissue_type="liver" /dev_stage="adult" source 2641..2870 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="P1/1898RN4.5" /tissue_type="liver" /dev_stage="adult" source 2971..3190 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="P1/1898RN4.5" /tissue_type="liver" /dev_stage="adult" source 3291..3520 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="P1/1898RN4.5" /tissue_type="liver" /dev_stage="adult" source 3621..3859 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="P1/1898RN4.5" /tissue_type="liver" /dev_stage="adult" source 3960..4157 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="P1/1898RN4.5" /tissue_type="liver" /dev_stage="adult" source 4258..4437 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="P1/1898RN4.5" /tissue_type="liver" /dev_stage="adult" source 4538..5007 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="1" /map="1p12-13" /clone="Lambda A21" /tissue_type="liver" /dev_stage="adult" regulatory 1..1432 /regulatory_class="promoter" regulatory 1405..1410 /regulatory_class="TATA_box" mRNA join(1433..1596,1760..2214,2383..2508,2672..2836, 3004..3169,3323..3493,3707..3813,3988..4113,4293..4404, 4565..5007) exon 1433..1596 /number=1 5'UTR 1433..1492 CDS join(1493..1596,1760..2214,2383..2508,2672..2836, 3004..3169,3323..3493,3707..3813,3988..4113,4293..4399) /codon_start=1 /product="3-hydroxy-3-methylglutaryl CoA synthase" /protein_id="AAB72036.1" /translation="MQRLLTPVKRILQLTRAVQETSLTPARLLPVAHQRFSTASAVPL AKTDTWPKDVGILALEVYFPAQYVDQTDLEKYNNVEAGKYTVGLGQTRMGFCSVQEDI NSLCLTVVQRLMERIQLPWDSVGRLEVGTETIIDKSKAVKTVLMELFQDSGNTDIEGI DTTNACYGGTASLFNAANWMESSSWDGRYAMVVCGDIAVYPSGNARPTGGAGAVAMLI GPKAPLALERGLRGTHMENVYDFYKPNLASEYPIVDGKLSIQCYLRALDRCYTSYRKK IQNQWKQAGSDRPFTLDDLQYMIFHTPFCKMVQKSLARLMFNDFLSASSDTQTSLYKG LEAFGGLKLEDTYTNKDLDKALLKASQDMFDKKTKASLYLSTHNGNMYTSSLYGCLAS LLSHHSAQELAGSRIGAFSYGSGLAASFFSFRVSQDAAPGSPLDKLVSSTSDLPKRLA SRKCVSPEEFTEIMNQREQFYHKVNFSPPGDTNSLFPGTWYLERVDEQHRRKYARRPV " gap 1631..1730 /estimated_length=unknown exon 1760..2214 /number=2 gap 2251..2350 /estimated_length=unknown exon 2383..2508 /number=3 gap 2541..2640 /estimated_length=unknown exon 2672..2836 /number=4 gap 2871..2970 /estimated_length=unknown exon 3004..3169 /number=5 gap 3191..3290 /estimated_length=unknown exon 3323..3493 /number=6 gap 3521..3620 /estimated_length=unknown repeat_region 3647..3680 /rpt_type=tandem /rpt_unit_seq="gt" /satellite="microsatellite" exon 3707..3813 /number=7 gap 3860..3959 /estimated_length=unknown exon 3988..4113 /number=8 gap 4158..4257 /estimated_length=unknown exon 4293..4404 /number=9 gap 4438..4537 /estimated_length=unknown exon 4565..5007 /number=10 BASE COUNT 1093 a 937 c 1018 g 1059 t ORIGIN 1 ggaacatgac agttagttga ctgcaagaat aagggcactg ggtggcacag actgtagcat 61 gtgctttaag acagcagggg ttttgagagg aggaagagga gaaataccct ggaagagata 121 gtatgaagca aagaggacac aggccttgtt gtaagcattt aaagtgcatt ggattgacaa 181 gaagcaacag gtatttcaga gaagagattg gaaatgaaga atttcactga cgacagaact 241 ttgcaaaagg ctgagtgtaa gagcaggagg tgacacagca agtaggagat tgagttagaa 301 caccaacaca ccaagatata tggagataag aatttaaaga taagatggaa gacctagata 361 tcctggactg ctggggcacc tagacattct ctgtctgtag gaacatgaag tcaactatat 421 cctcctaaag caggaaccac tccagctctt ttctgtgttc cctacacact catattagac 481 agggggttgg tgatggggat gactgaatga actaaggagt gaatgcatga ctcacaaaag 541 gtagaggaag attggtgctg tgggaggagt ggagggagac attcatttgg aaaatcagat 601 ggcaggagcc tttttattga gtagtagaag agcaaagcag aaggaccaga atctggagtc 661 aaaagacatg gttgagttct cattctgcaa cttcctagct gcaggtcttt gggaaaatga 721 ctcctttata cataactctg acctcatcta taaagtaaac ctttcctcct taggagattg 781 agcttcaaac tgtcacctct ttgaggctcc tgtcccttta ctacaacact aatttcatcc 841 cacttggaaa ttgtgtagag ctgtacaagt aaaagggtgg acaataaaca ggagaaatat 901 agtaggttcc acatactcta acgcccagcc cttggcctat gtgccaacac tcactcccaa 961 ctccttgaaa agctactatt aaaagagttt ccctttggtt tagaaagatg tttcttataa 1021 tgcatagcac attaaaataa taacaactaa caccacagga ggaggagtgt ggaacaccca 1081 gtgagagtaa tacagataag gagccagggt ctaaaacaag acacataggg ttaccttggg 1141 atgtgataca acaaggaaca tcataacctc ctgcttaggt agctgggcag aatcaaggct 1201 gccacagagc ctgatgagta ggaggaacaa tgcccagcca ttcccacaca tgctcaggag 1261 cagggcagct atgtacatgt tggagagatg ctgtttgtct ttgactcgcc cgtgttctga 1321 gtgagccctt tgacccagtt ttagaagcag actgagccac ggtgagcaga ggcggggctt 1381 agggaggcag gagtcttggg gctttataaa gtctgccggg caccactggg catctctttc 1441 aaggtttctg ctgggtttct gaactgctgg gtttctgctt gctcctctgg agatgcagcg 1501 tctgttgact ccagtgaagc gcattctgca actgacaaga gcggtgcagg aaacctccct 1561 cacacctgct cgcctgctcc cagtagccca ccaaaggtga gtcactttct gagaagcacc 1621 ttgtaactag nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1681 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn tgggagtttg 1741 actgttatct ccatcacagg ttttctacag cctctgctgt ccccctggcc aaaacagata 1801 cttggccaaa ggacgtgggc atcctggccc tggaggtcta cttcccagcc caatatgtgg 1861 accaaactga cctggagaag tataacaatg tggaagcagg aaagtataca gtgggcttgg 1921 gccagacccg tatgggcttc tgctcagtcc aagaggacat caactccctg tgcctgacgg 1981 tggtgcaacg gctgatggag cgcatacagc tcccatggga ctctgtgggc aggctggaag 2041 taggcactga gaccatcatt gacaagtcca aagctgtcaa aacagtgctc atggaactct 2101 tccaggattc aggcaatact gatattgagg gcatagatac caccaatgcc tgctacggtg 2161 gtactgcctc cctcttcaat gctgccaact ggatggagtc cagttcctgg gatggtatgt 2221 acggccacga accttatgta agaaaggtgc nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2281 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2341 nnnnnnnnnn tgatggtaaa tatttcttgt ttctctttac aggtcgttat gccatggtgg 2401 tctgtggaga cattgccgtc tatcccagtg gtaatgctcg tcccacaggt ggggccggag 2461 ctgtggctat gctgattggg cccaaggccc ctctggccct ggagcgaggt ttgtagtaat 2521 ccattaccaa gaggctgttg nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2581 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2641 agtctctgaa acactttgtg tgcctttcca gggctgaggg gaacccatat ggagaatgtg 2701 tatgacttct acaaaccaaa tttggcctcg gagtacccaa tagtggatgg gaagctttcc 2761 atccagtgct acttgcgggc cttggatcga tgttacacat cataccgtaa aaaaatccag 2821 aatcagtgga agcaaggtat gagattcaga gggcagaaag tgggggctct nnnnnnnnnn 2881 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2941 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn gccccatcct tgccttcacg cttcctcttc 3001 cagctggcag cgatcgaccc ttcacccttg acgatttaca gtacatgatc tttcatacac 3061 ccttttgcaa gatggtccag aagtctctgg ctcgcctgat gttcaatgac ttcctgtcag 3121 ccagcagtga cacacaaacc agcttatata aggggctgga ggctttcggg tgagttctct 3181 tcttggggag nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3241 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn ctctcacatg 3301 gctacctctg gctacctcac agggggctaa agctggaaga cacctacacc aacaaggacc 3361 tggataaagc acttctaaag gcctctcagg acatgttcga caagaaaacc aaggcttccc 3421 tttacctctc cactcacaat gggaacatgt acacctcatc cctgtacggg tgcctggcct 3481 cgcttctgtc ccagtgagta ctgcatctgg ctccatgtcc nnnnnnnnnn nnnnnnnnnn 3541 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3601 nnnnnnnnnn nnnnnnnnnn agaatataat atatatatac atatatgtgt gtgtgtgtgt 3661 gtgtgtgtgt gtgtgtgtgt ttattaattg atttctttcc ccacagccac tctgcccaag 3721 aactggctgg ctccaggatt ggtgccttct cttatggctc tggtttagca gcaagtttct 3781 tttcatttcg agtatcccag gatgctgctc caggtgagtg tcatctttct agtaggcctt 3841 cctgacaaga ttcatctggn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3901 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnng 3961 tgtaacaatc ttgcttttgc ttcccaggct ctcccctgga caagttggtg tccagcacat 4021 cagacctgcc aaaacgccta gcctcccgaa agtgtgtgtc tcctgaggag ttcacagaaa 4081 taatgaacca aagagagcaa ttctaccata agggtaagaa aaaagtcagg aagagaggaa 4141 gagagacccc attccagnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4201 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnctt 4261 tgtgagtact gcctcttctc ctcattccac agtgaatttc tccccacctg gtgacacaaa 4321 cagccttttc ccaggtactt ggtacctgga gcgagtggac gagcagcatc gccgaaagta 4381 tgcccggcgt cccgtctaaa ggtggtgagt gagagtttga gagttggtgg cataaaannn 4441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4501 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnngat tgaatgactt tttgtttatt 4561 taagttctgc agatccatgg aaagcttcct gggaaagtat gctagcagag cttctccccg 4621 tgaatcatat ttttaagatc ccactcttag ctggtaaatg aatttgaatc gacatagtag 4681 ccccataagc atcagccctg tagagtgagg agccatctct agcgggccct tcattcctct 4741 ccatgctgca atcactgtcc tgggcttatg gtgctatgca ctaggggtcc tttgtgaaag 4801 agcaagatgg agcaatggag agaagacctc ttcctgaatc actggactcc agaaatgtgc 4861 atgcagatca gctgttgcct tcaagatcca gataaacttt cctgtcatgt gttagaactt 4921 tattattatt aatattgtta aacttctgtg ctgttcctgt gaatctccaa attttgtacc 4981 ttgttctaag ctaatatata gcaatta //