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MGP001634

UniProt Annotations

Entry Information
Gene Nameinsulin
Protein EntryINS_HUMAN
UniProt IDP01308
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P01308-1; Sequence=Displayed; Name=2; Synonyms=INS-IGF2; IsoId=F8WCM5-1; Sequence=External; Note=Based on a readthrough transcript which may produce an INS-IGF2 fusion protein.;
DiseaseDiabetes mellitus, insulin-dependent, 2 (IDDM2) [MIM:125852]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:18192540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseDiabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood- onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269|PubMed:17855560, ECO:0000269|PubMed:18162506}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHyperproinsulinemia, familial (FHPRI) [MIM:176730]: An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. {ECO:0000269|PubMed:1601997, ECO:0000269|PubMed:2196279, ECO:0000269|PubMed:3470784, ECO:0000269|PubMed:4019786}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMaturity-onset diabetes of the young 10 (MODY10) [MIM:613370]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:18162506, ECO:0000269|PubMed:18192540, ECO:0000269|PubMed:20226046}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInsulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver.
InteractionSelf; NbExp=16; IntAct=EBI-7090529, EBI-7090529;
PharmaceuticalAvailable under the names Humulin or Humalog (Eli Lilly) and Novolin (Novo Nordisk). Used in the treatment of diabetes. Humalog is an insulin analog with 52-Lys-Pro-53 instead of 52-Pro-Lys-53.
Sequence CautionSequence=AAA59179.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the insulin family. {ECO:0000305}.
Subcellular LocationSecreted.
SubunitHeterodimer of a B chain and an A chain linked by two disulfide bonds.
Web ResourceName=Insulin at Eli Lilly; Note=Clinical information on Eli Lilly insulin products; URL="http://www.lillyDiabetes.com/Products/PatientInfo.cfm";
Web ResourceName=Protein Spotlight; Note=Protein of the 20th century - Issue 9 of April 2001; URL="http://web.expasy.org/spotlight/back_issues/009";
Web ResourceName=Wikipedia; Note=Insulin entry; URL="http://en.wikipedia.org/wiki/Insulin";
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