INS

Gene Information
 
Gene Symbol
INS
 
Aliases
IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10
 
Entrez Gene ID
 
Gene Name
Insulin
 
Chromosomal Location
11p15.5
 
HGNC ID
 
Summary
This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. 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, Jan 2019]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0002674 Biological process Negative regulation of acute inflammatory response IDA 11443198
GO:0006355 Biological process Regulation of transcription, DNA-templated NAS 12881524
GO:0006521 Biological process Regulation of cellular amino acid metabolic process IMP 3553851
GO:0006953 Biological process Acute-phase response IDA 14739855
GO:0007186 Biological process G protein-coupled receptor signaling pathway IDA 9092559
Protein Information
 
Protein Name
Insulin, preproinsulin, proinsulin
 
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
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00049 Insulin
Pathways
 
KEGG
 
Reactome
 

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cGMP-PKG signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Phospholipase D signaling pathway
Oocyte meiosis
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Regulation of actin cytoskeleton
Insulin signaling pathway
Insulin secretion
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Prolactin signaling pathway
Regulation of lipolysis in adipocytes
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease (NAFLD)
Type I diabetes mellitus
Maturity onset diabetes of the young
Aldosterone-regulated sodium reabsorption
Prostate cancer

 

Insulin processing
Synthesis, secretion, and deacylation of Ghrelin
COPI-mediated anterograde transport
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
IRS activation
Signal attenuation
Insulin receptor signalling cascade
Signaling by Insulin receptor
Insulin receptor recycling
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
Amyloid fiber formation

Interactions
 
STRING MINT IntAct
ENSP00000399421 P16671
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Failure
Ventricular Outflow Obstruction
Cardiomyopathy
Cardiac Arrest
Hypertensive disease
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Obesity 
 
 
Related 
21 obese women with PCO, 18 obese women without menstrual disturbances and 9 normal-weight healthy women 
obese women with PCO insulin influence ovarian androgen production 
Androgen and IGFBPs 
 
 
 
Related 
Women undergoing IVF for tubal disease 
Androgen and insulin are important regulators of IGFBP release and that elevated levels of the two hormones may contribute to the altered IGFBP profile found in PCOS follicles 
Androgen and CD(36) 
 
 
 
Related 
12 patients with asymmetric PCO, 15 primary or secondary infertile patients without endocrine disorders and 8 PCOS with bilateral PCO were recruited 
Decrease of scavenger receptor gene CD(36) mRNA may play a role in the pathogenesis of PCO by increasing the level of T and INSin follicular fluid. 
TNF-alpha 
Hyperinsulinaemia  
 
 
Related 
20 young non-diabetic women with PCOS and 21 control 
The decrease in TNF-alpha concentrations during oGTT and the inverse correlation between endogenous hyperinsulinaemia and serum TNF-alpha concentrations suggested an anti-inflammatory effect of moderately-high insulin concentrations. This occurred despite the presence of moderate hyperglycaemia. These findings also demonstrated a preserved responsiveness of inflammatory mediators to insulin in PCOS. 
GH and Glucose 
 
 
Rotterdam criteria 
Related 
20 obese women with PCOS, and 15 obese controls. 
The injection of ghrelin seems to override the GH secretion defect in obese women with PCOS, and to induce glucoinsulinemic changes in both controls and obese patients with PCOS. 

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