UniProt functional annotation for P01308



	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 (PubMed:25423173). {ECO:0000269|PubMed:25423173}.

Subcellular location: Secreted.

Disease: Hyperproinsulinemia (HPRI) [MIM:616214]: 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 variants 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 variants affecting the gene represented in this entry.

Disease: Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858]: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. PNDM4 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. {ECO:0000269|PubMed:17855560, ECO:0000269|PubMed:18162506}. Note=The disease is caused by variants 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, ECO:0000269|PubMed:25423173}. Note=The disease is caused by variants 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.


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 (PubMed:25423173). {ECO:0000269\|PubMed:25423173}.
Subcellular location:		Secreted.
Disease:		Hyperproinsulinemia (HPRI) [MIM:616214]: 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 variants 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 variants affecting the gene represented in this entry.
Disease:		Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858]: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. PNDM4 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. {ECO:0000269\|PubMed:17855560, ECO:0000269\|PubMed:18162506}. Note=The disease is caused by variants 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, ECO:0000269\|PubMed:25423173}. Note=The disease is caused by variants 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};