资源描述：
《人胰岛素基因全长》由会员上传分享，免费在线阅读，更多相关内容在行业资料-天天文库。
1、LOCUSNG_0071148416bpDNAlinearPRI27-JUN-2012DEFINITIONHomosapiensinsulin(INS),RefSeqGeneonchromosome11.ACCESSIONNG_007114VERSIONNG_007114.1GI:161086962KEYWORDSRefSeqGene.SOURCEHomosapiens(human)ORGANISMHomosapiensEukaryota;Metazoa;Chordata;Craniata;Vertebrata;Euteleo
2、stomi;Mammalia;Eutheria;Euarchontoglires;Primates;Haplorrhini;Catarrhini;Hominidae;Homo.REFERENCE1(bases1to8416)AUTHORSBell,G.I.,Swain,W.F.,Pictet,R.,Cordell,B.,Goodman,H.M.andRutter,W.J.TITLENucleotidesequenceofacDNAcloneencodinghumanpreproinsulinJOURNALNature282(5
3、738),525-527(1979)PUBMED503234REFERENCE2(bases1to8416)AUTHORSSANGER,F.TITLEChemistryofinsulin;determinationofthestructureofinsulinopensthewaytogreaterunderstandingoflifeprocessesJOURNALScience129(3359),1340-1344(1959)PUBMED13658959COMMENTREVIEWEDREFSEQ:Thisrecordhas
4、beencuratedbyNCBIstaff.ThereferencesequencewasderivedfromAC132217.15.ThissequenceisareferencestandardintheRefSeqGeneproject.Summary:Afterremovaloftheprecursorsignalpeptide,proinsulinispost-translationallycleavedintothreepeptides:theBchainandAchainpeptides,whichareco
5、valentlylinkedviatwodisulfidebondstoforminsulin,andC-peptide.Bindingofinsulintotheinsulinreceptor(INSR)stimulatesglucoseuptake.Amultitudeofmutantalleleswithphenotypiceffectshavebeenidentified.Thereisaread-throughgene,INS-IGF2,whichoverlapswiththisgeneatthe5'regionan
6、dwiththeIGF2geneatthe3'region.Alternativesplicingresultsinmultipletranscriptvariants.[providedbyRefSeq,Jun2010].PRIMARYREFSEQ_SPANPRIMARY_IDENTIFIERPRIMARY_SPANCOMP1-8416AC132217.1581434-89849FEATURESLocation/Qualifierssource1..8416/organism="Homosapiens"/mol_type="
7、genomicDNA"/db_xref="taxon:9606"/chromosome="11"/map="11p15.5"gene<1..2266/gene="TH"/gene_synonym="DYT14;DYT5b;TYH"/note="tyrosinehydroxylase"/db_xref="GeneID:7054"/db_xref="HGNC:11782"/db_xref="MIM:191290"STS26..261/gene="TH"/gene_synonym="DYT14;DYT5b;TYH"/standard
8、_name="REN117116"/db_xref="UniSTS:441911"mRNAjoin(<137..193,432..527,830..963,1803..2266)/gene="TH"/gene_synonym="DYT14;DYT5b;TYH"/product
