人胰岛素基因全长.docVIP

LOCUS NG_007114 8416 bp DNA linear PRI 27-JUN-2012 DEFINITION Homo sapiens insulin (INS), RefSeqGene on chromosome 11. ACCESSION NG_007114 VERSION NG_007114.1 GI:161086962 KEYWORDS RefSeqGene. 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 8416) AUTHORS Bell,G.I., Swain,W.F., Pictet,R., Cordell,B., Goodman,H.M. and Rutter,W.J. TITLE Nucleotide sequence of a cDNA clone encoding human preproinsulin JOURNAL Nature 282 (5738), 525-527 (1979) PUBMED 503234 REFERENCE 2 (bases 1 to 8416) AUTHORS SANGER,F. TITLE Chemistry of insulin; determination of the structure of insulin opens the way to greater understanding of life processes JOURNAL Science 129 (3359), 1340-1344 (1959) PUBMED COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC132217.15. This sequence is a reference standard in the RefSeqGene project. Summary: After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5 region and with the IGF2 gene at the 3 region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]. PRIMARY RE