UniProt functional annotation for P01308

UniProt code: P01308.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
Function: Insulin 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.
 
Subunit: Heterodimer of a B chain and an A chain linked by two disulfide bonds.
Subcellular location: Secreted.
Disease: Hyperproinsulinemia, 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.
Disease: Diabetes 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.
Disease: Diabetes 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.
Disease: Maturity-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.
Pharmaceutical: Available 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.
Similarity: Belongs to the insulin family. {ECO:0000305}.
Sequence caution: Sequence=AAA59179.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.