Insulin (INS)

SPN	W358
HGNC	6081
MGI	96573
PubMed	16950141
RGD	2916
UniProt	P01308
Wiki	Insulin

Insulin is a polypeptide hormone originating in the beta cells of the pancreas and serving as a principal regulator for the storage and production of carbohydrates. Its secretion is normally stimulated by increases in the amount of glucose in circulation. This leads to higher insulin levels and more rapid tissueassimilation of glucose followed by a decline in the insulin level as the glucose level subsides. In a number of conditions, notably insulinoma and diabetes, this relationship is impaired. Insulin tends to circulate at inappropriately high levels in patients with insulin-secreting pancreatic tumors; such tumors can thus be a cause of hypoglycemia. Accordingly, insulin immunoassays used sometimes in connection with provocative doses of tolbutamide or calcium play an essential role in the identification (and localization) of insulinomas.

Reference

"Sequence of the human insulin gene."
Nature 284:26-32(1980) [PubMed] [Europe PMC] [Abstract]

"Genetic variation in the human insulin gene."
Science 209:612-615(1980) [PubMed] [Europe PMC] [Abstract]

"Nucleotide sequence of a cDNA clone encoding human preproinsulin."
Nature 282:525-527(1979) [PubMed] [Europe PMC] [Abstract]

"Nucleotide sequence of human preproinsulin complementary DNA."
Science 208:57-59(1980) [PubMed] [Europe PMC] [Abstract]

"Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR."
Nat. Genet. 4:305-310(1993) [PubMed] [Europe PMC] [Abstract]

"Insulinomas and expression of an insulin splice variant."
Lancet 363:363-367(2004) [PubMed] [Europe PMC] [Abstract]

"Global haplotype diversity in the human insulin gene region."
Genome Res. 13:2101-2111(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 187:483-485(1960) [PubMed] [Europe PMC] [Abstract]

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Eur. J. Biochem. 20:190-199(1971) [PubMed] [Europe PMC] [Abstract]

"Total synthesis of human insulin under directed formation of the disulfide bonds."
Helv. Chim. Acta 57:2617-2621(1974) [PubMed] [Europe PMC] [Abstract]

"Studies on polypeptides, IV. The synthesis of C-peptide of human proinsulin."
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"Synthesis of peptides with the properties of human proinsulin C peptides (hC peptide). 3. Synthesis of the sequences 14-17 and 9-13 of human proinsulin C peptides."
Chem. Ber. 106:199-205(1973) [PubMed] [Europe PMC] [Abstract]

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Chem. Ber. 106:188-192(1973) [PubMed] [Europe PMC] [Abstract]

"Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin."
Proc. Natl. Acad. Sci. U.S.A. 80:6366-6370(1983) [PubMed] [Europe PMC] [Abstract]

"Identification of a mutant human insulin predicted to contain a serine-for-phenylalanine substitution."
Proc. Natl. Acad. Sci. U.S.A. 80:7390-7394(1983) [PubMed] [Europe PMC] [Abstract]

"A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia."
Proc. Natl. Acad. Sci. U.S.A. 84:2194-2197(1987) [PubMed] [Europe PMC] [Abstract]

"Structurally abnormal insulin in a diabetic patient. Characterization of the mutant insulin A3 (Val-->Leu) isolated from the pancreas."
J. Clin. Invest. 78:1666-1672(1986) [PubMed] [Europe PMC] [Abstract]

"Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction."
J. Clin. Endocrinol. Metab. 71:164-169(1990) [PubMed] [Europe PMC] [Abstract]

"Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia."
J. Clin. Invest. 76:378-380(1985) [PubMed] [Europe PMC] [Abstract]

"A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto)."
J. Clin. Invest. 89:1902-1907(1992) [PubMed] [Europe PMC] [Abstract]

"Toward the solution structure of human insulin: sequential 2D 1H NMR assignment of a des-pentapeptide analogue and comparison with crystal structure."
Biochemistry 29:10545-10555(1990) [PubMed] [Europe PMC] [Abstract]

"Comparative 2D NMR studies of human insulin and des-pentapeptide insulin: sequential resonance assignment and implications for protein dynamics and receptor recognition."
Biochemistry 30:5505-5515(1991) [PubMed] [Europe PMC] [Abstract]

"Two-dimensional NMR studies of Des-(B26-B30)-insulin: sequence-specific resonance assignments and effects of solvent composition."
Biochim. Biophys. Acta 1078:101-110(1991) [PubMed] [Europe PMC] [Abstract]

"Three-dimensional solution structure of an insulin dimer. A study of the B9(Asp) mutant of human insulin using nuclear magnetic resonance, distance geometry and restrained molecular dynamics."
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"Paradoxical structure and function in a mutant human insulin associated with diabetes mellitus."
Proc. Natl. Acad. Sci. U.S.A. 90:582-586(1993) [PubMed] [Europe PMC] [Abstract]

"Solution structures of the R6 human insulin hexamer."
Biochemistry 36:9409-9422(1997) [PubMed] [Europe PMC] [Abstract]

"Insulin gene mutations as a cause of permanent neonatal diabetes."
Proc. Natl. Acad. Sci. U.S.A. 104:15040-15044(2007) [PubMed] [Europe PMC] [Abstract]

"Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood."
Diabetes 57:1034-1042(2008) [PubMed] [Europe PMC] [Abstract]

"Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes."
Diabetes 57:1131-1135(2008) [PubMed] [Europe PMC] [Abstract]

"Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)."
BMC Med. Genet. 11:42-42(2010) [PubMed] [Europe PMC] [Abstract]