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    INS insulin [ Homo sapiens ]

    Gene ID: 3630, updated on 20-May-2012
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    Summary

    Official Symbol
    INSprovided by HGNC
    Official Full Name
    insulinprovided by HGNC
    Primary source
    HGNC:6081
    See related
    Ensembl:ENSG00000254647; HPRD:01455; MIM:176730; Vega:OTTHUMG00000009558
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ILPR; IRDN; IDDM2; MODY10
    Summary
    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, Jun 2010]
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    Genomic context

    Location :
    11p15.5
    Sequence :
    Chromosome: 11; NC_000011.9 (2181009..2182439, complement)
    See INS in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene INS-IGF2 readthrough Neighboring gene insulin-like growth factor 2 (somatomedin A) Neighboring gene microRNA 483 Neighboring gene IGF2 antisense RNA (non-protein coding) Neighboring gene tyrosine hydroxylase Neighboring gene microRNA 4686

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Associations of prenatal metabolic abnormalities with insulin and adiponectin concentrations in human milk. Ley SH, et al. Am J Clin Nutr, 2012 Apr. PMID 22378730.
    2. Sweet taste receptor signaling in beta cells mediates fructose-induced potentiation of glucose-stimulated insulin secretion. Kyriazis GA, et al. Proc Natl Acad Sci U S A, 2012 Feb 21. PMID 22315413.
    3. Effects of cord serum insulin, IGF-II, IGFBP-2, IL-6 and cortisol concentrations on human birth weight and length: pilot study. Smerieri A, et al. PLoS One, 2011. PMID 22242132.
    4. Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene. Garin I, et al. PLoS One, 2012. PMID 22235272.
    5. Synergy analysis reveals association between insulin signaling and desmoplakin expression in palmitate treated HepG2 cells. Wang X, et al. PLoS One, 2011. PMID 22132232.

    See all (527) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. the genetic etiology in a patient who presented with permanent neonatal diabetes at 2 months of age
      Title: Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.
    2. an important role for KLF11 in the regulation of INS transcription via the novel c.-331 KLF site.
      Title: Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
    3. This study aimed at establishing and clarifying the effect of cord serum insulin, IGF-II, IGFBP-2, cortisol and IL-6 concentrations on birth length and weight.
      Title: Effects of cord serum insulin, IGF-II, IGFBP-2, IL-6 and cortisol concentrations on human birth weight and length: pilot study.
    4. Data suggest that maternal prenatal metabolic abnormalities are associated with high insulin concentrations in mature milk; obstetrical variables are associated with adiponectin concentrations in early milk.
      Title: Associations of prenatal metabolic abnormalities with insulin and adiponectin concentrations in human milk.
    5. There was no significant correlation between insulin and ghrelin, and between insulin and leptin in all age groups in healthy children
      Title: Ghrelin, leptin and insulin in healthy children: Relationship with anthropometry, gender, and age distribution.
    6. Genetic ablation of the sweet TR protein T1R2 obliterates fructose-induced insulin release and its potentiating effects on glucose-stimulated insulin secretion in vitro and in vivo.
      Title: Sweet taste receptor signaling in beta cells mediates fructose-induced potentiation of glucose-stimulated insulin secretion.
    7. Palmitate significantly reduces DSP expression, and treatment with insulin restores the lost expression of DSP.
      Title: Synergy analysis reveals association between insulin signaling and desmoplakin expression in palmitate treated HepG2 cells.
    8. NaCl enhances insulin fibrillation mainly due to subtle structural changes and is not a mere salt effect.
      Title: The mechanism of enhanced insulin amyloid fibril formation by NaCl is better explained by a conformational change model.
    9. By tuning the IAPP/insulin ratio, atomic force microscopy reveals the resulting nanostructure morphology changes from fibrils to oligomers, to annular.
      Title: Co-assembly of human islet amyloid polypeptide (hIAPP)/insulin.
    10. investigation into functions of insulin in nervous system: Data suggest that insulin plays role in sensory thresholds, specifically satiety response; insulin may have different effects on various parts of peripheral sensory system.
      Title: Effects of isolated hyperinsulinaemia on sensory function in healthy adults.
    Submit: New GeneRIF Correction See all (341)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

    Diabetes mellitus, permanent neonatal

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks) that does not resolve over time. Clinical manifestations at the time of diagnosis include intrauterine growth retardation (IUGR); hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and allows for catch-up growth. The course of PNDM varies by genotype. Approximately 20% of individuals with mutations in KCNJ11 have associated neurologic findings, called the DEND syndrome (developmental delay, epilepsy, and neonatal diabetes mellitus); a milder form without seizures and with less severe developmental delay is called intermediate DEND syndrome. Pancreatic hypoplasia caused by homozygous PDX1 mutations results in severe insulin deficiency and exocrine pancreatic insufficiency.
    Diagnosis Testing
    Persistent hyperglycemia (plasma glucose concentration >150-200 mg/dL) in infants younger than age six months establishes the diagnosis of PNDM. The five genes currently known to be associated with nonsyndromic PNDM are KCNJ11 (~30% of PNDM), ABCC8 (~19%), INS (~20%), GCK (~4%), and PDX1 (<1%). Molecular genetic testing is available on a clinical basis for all genes.
    Genetic Counseling
    The mode of inheritance of PNDM is autosomal dominant for mutations in KCNJ11, autosomal dominant or autosomal recessive for mutations in ABCC8 and INS, and autosomal recessive for mutations in GCK and PDX1. Individuals with autosomal dominant PNDM may have an affected parent or may have a de novo mutation. Each child of an individual with PNDM inherited in an autosomal dominant manner has a 50% chance of inheriting the mutation. The parents of a child with autosomal recessive PNDM are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes (carriers) for mutations in GCK and PDX1 have a mild form of diabetes mellitus known as GCK-familial monogenic diabetes (formerly known as MODY2) and PDX1-familial monogenic diabetes (formerly known as MODY4). At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier (or of having familial monogenic diabetes), and a 25% chance of being unaffected and not a carrier. Prenatal diagnosis for pregnancies at increased risk for most forms of PNDM is available if the disease-causing mutation(s) in the family are known.
    References

    Diabetes mellitus, type 1

    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

    Hyperproinsulinemia, familial, with or without diabetes

    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.

    insulin-related DNA polymorphism

    Maturity-onset diabetes of the young, type 10

    MODY, one form

    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr antagonizes insulin's effect on the expression of glucose 6-phosphatase, manganese superoxide dismutase, and sterol carrier protein 2 genes in HepG2 cells PubMed
    vpr HIV-1 Vpr inhibits insulin-induced association of 14-3-3 and Foxo3a in HeLa cells PubMed
    vpr HIV-1 Vpr inhibits insulin-induced cytoplasmic translocation of Foxo3a, a subtype of the forkhead transcription factors PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P01308 P16870 CPE    HPRD  PubMed  
    P01308 P07858 CTSB    HPRD  PubMed  
    P01308 P07339 CTSD    HPRD  PubMed  
    P01308 P14091 CTSE    HPRD  PubMed  
    P01308 P35557 GCK    HPRD  PubMed  
    P01308 P01906 HLA-DQA2    HPRD  PubMed  
    P01308 P01918 HLA-DQB1    HPRD  PubMed  
    P01308 P14735 IDE    HPRD  PubMed  
    P01308 P08069 IGF1R    HPRD  PubMed  
    P01308 Q16270 IGFBP7    HPRD  PubMed  
    P01308 P01308 INS    HPRD  PubMed  
    P01308 P06213 INSR    HPRD  PubMed  
    P01308 P98164 LRP2    HPRD  PubMed  
    P01308 P48745 NOV    HPRD  PubMed  
    P01308 P06400 RB1    HPRD  PubMed  
    P01308 Q96C24 SYTL4    HPRD  PubMed  
    P01308 Q9BRA2 TXNDC17    HPRD  PubMed  
    BioGRID:109842 BioGRID:109711 IGFBP7    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109842 BioGRID:111583 MAPK6    BioGRID  PubMed Two-hybrid 
    BioGRID:109842 BioGRID:110443 MLL    BioGRID  PubMed Biochemical Activity 
    BioGRID:109842 BioGRID:110918 NOV    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109842 BioGRID:124277 TXNDC17    BioGRID  PubMed Biochemical Activity 
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    General gene information

    Markers

    Genotypes

    Readthrough INS-IGF2

    Readthrough gene: INS-IGF2, Included gene: IGF2

    Homology

    Pathways from BioSystems

    • ATF-2 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      ATF-2 transcription factor network, organism-specific biosystem
      ATF-2 transcription factor network
    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Aldosterone-regulated sodium reabsorption, organism-specific biosystem (from KEGG)
      Aldosterone-regulated sodium reabsorption, organism-specific biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
    • Aldosterone-regulated sodium reabsorption, conserved biosystem (from KEGG)
      Aldosterone-regulated sodium reabsorption, conserved biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
    • Amyloids, organism-specific biosystem (from REACTOME)
      Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
    • Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
      Arf6 trafficking events, organism-specific biosystem
      Arf6 trafficking events
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Diabetes pathways, organism-specific biosystem (from REACTOME)
      Diabetes pathways, organism-specific biosystemThis module groups several normal processes that have key roles in the synthesis and function of insulin, insulin-like growth factors and ghrelin, and whose derangement is thus central to the pathoge...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • Folate Metabolism, organism-specific biosystem (from WikiPathways)
      Folate Metabolism, organism-specific biosystem
      Folate Metabolism
    • IRS activation, organism-specific biosystem (from REACTOME)
      IRS activation, organism-specific biosystemUsing receptor mutagenesis studies it is known that IRS1 via its PTB domain binds to the insulin receptor at the juxtamembrane region at tyrosine 972. The interaction is further stabilized by the PH ...
    • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
      IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
    • IRS-related events, organism-specific biosystem (from REACTOME)
      IRS-related events, organism-specific biosystemIRS is one of the mediators of insulin signalling events. It is activated by phosphorylation and triggers a cascade of events involving PI3K, SOS, RAF and the MAP kinases. The proteins mentioned unde...
    • Insulin Pathway, organism-specific biosystem (from Pathway Interaction Database)
      Insulin Pathway, organism-specific biosystem
      Insulin Pathway
    • Insulin Synthesis and Processing, organism-specific biosystem (from REACTOME)
      Insulin Synthesis and Processing, organism-specific biosystemThe generation of insulin-containing secretory granules from proinsulin in the lumen of the endoplasmic reticulum (ER) can be described in 4 steps: formation of intramolecular disulfide bonds, format...
    • Insulin receptor recycling, organism-specific biosystem (from REACTOME)
      Insulin receptor recycling, organism-specific biosystemTriggered by acidification of the endosome, insulin dissociates from the receptor and is degraded. The receptor is dephosphorylated and re-integrated into the plasma membrane, ready to be activated a...
    • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
      Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
    • Insulin signaling pathway, organism-specific biosystem (from KEGG)
      Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Insulin signaling pathway, conserved biosystem (from KEGG)
      Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Insulin-mediated glucose transport, organism-specific biosystem (from Pathway Interaction Database)
      Insulin-mediated glucose transport, organism-specific biosystem
      Insulin-mediated glucose transport
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
      Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
      Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Oocyte meiosis, organism-specific biosystem (from KEGG)
      Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Oocyte meiosis, conserved biosystem (from KEGG)
      Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • PI3K Cascade, organism-specific biosystem (from REACTOME)
      PI3K Cascade, organism-specific biosystem
      PI3K Cascade
    • Progesterone-mediated oocyte maturation, organism-specific biosystem (from KEGG)
      Progesterone-mediated oocyte maturation, organism-specific biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
    • Progesterone-mediated oocyte maturation, conserved biosystem (from KEGG)
      Progesterone-mediated oocyte maturation, conserved biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
    • Prostate cancer, organism-specific biosystem (from KEGG)
      Prostate cancer, organism-specific biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Prostate cancer, conserved biosystem (from KEGG)
      Prostate cancer, conserved biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Regulation of Insulin Secretion, organism-specific biosystem (from REACTOME)
      Regulation of Insulin Secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Regulation of autophagy, organism-specific biosystem (from KEGG)
      Regulation of autophagy, organism-specific biosystem
      Regulation of autophagy
    • Regulation of autophagy, conserved biosystem (from KEGG)
      Regulation of autophagy, conserved biosystem
      Regulation of autophagy
    • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
      Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
    • Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
    • SHC activation, organism-specific biosystem (from REACTOME)
      SHC activation, organism-specific biosystemSHC interacts via its SH2 domain with the carboxyterminal phosphorylated tyrosines of the insulin receptor. As a result, SHC is tyrosine phosphorylated (Tyr317) by the insulin receptor, later falling...
    • SHC-related events, organism-specific biosystem (from REACTOME)
      SHC-related events, organism-specific biosystemSHC is one of the mediators of insulin signalling events. It is activated by phosphorylation and triggers a cascade of events involving SOS, RAF and the MAP kinases.
    • Selenium Pathway, organism-specific biosystem (from WikiPathways)
      Selenium Pathway, organism-specific biosystem
      Selenium Pathway
    • Senescence and Autophagy, organism-specific biosystem (from WikiPathways)
      Senescence and Autophagy, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signal attenuation, organism-specific biosystem (from REACTOME)
      Signal attenuation, organism-specific biosystemNow with the complete receptor-ligand dissociation and subsequent degradation of insulin in the endosomal lumen, the endosomally associated protein tyrosine phosphatases (PTPs) complete the receptor ...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
    • Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by PTP1B, organism-specific biosystem
      Signaling events mediated by PTP1B
    • Signaling events mediated by TCPTP, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by TCPTP, organism-specific biosystem
      Signaling events mediated by TCPTP
    • Synthesis, Secretion, and Deacylation of Ghrelin, organism-specific biosystem (from REACTOME)
      Synthesis, Secretion, and Deacylation of Ghrelin, organism-specific biosystemGhrelin is a peptide hormone of 28 amino acid residues which is acylated at the serine-3 of the mature peptide. Ghrelin is synthesized in several tissues: X/A-like cells of the gastric mucosa (the ma...
    • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
      Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Type I diabetes mellitus, conserved biosystem (from KEGG)
      Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, conserved biosystem (from KEGG)
      Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • mTOR signaling pathway, organism-specific biosystem (from KEGG)
      mTOR signaling pathway, organism-specific biosystem
      mTOR signaling pathway
    • mTOR signaling pathway, conserved biosystem (from KEGG)
      mTOR signaling pathway, conserved biosystem
      mTOR signaling pathway

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone activity IC
    Inferred by Curator
    more info
    		 PubMed 
    hormone activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    hormone activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    insulin receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    insulin receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    insulin-like growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    activation of protein kinase B activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acute-phase response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    alpha-beta T cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell-cell signaling IC
    Inferred by Curator
    more info
    		 PubMed 
    endocrine pancreas development TAS
    Traceable Author Statement
    more info
    		  
    energy reserve metabolic process TAS
    Traceable Author Statement
    more info
    		  
    fatty acid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    glucose transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    negative regulation of NAD(P)H oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of acute inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    negative regulation of fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of feeding behavior IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of gluconeogenesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    negative regulation of glycogen catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of lipid catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    negative regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of respiratory burst involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of vasodilation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    positive regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of cell differentiation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    positive regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of cellular protein metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of cytokine secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of glucose import IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of glycolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of glycolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of lipid biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    positive regulation of mitosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of nitric oxide biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    positive regulation of nitric-oxide synthase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of phosphatidylinositol 3-kinase cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of protein autophosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    positive regulation of protein kinase B signaling cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of respiratory burst IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of vasodilation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    regulation of cellular amino acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
    		  
    regulation of protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of transcription, DNA-dependent NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    regulation of transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    wound healing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    endosome lumen TAS
    Traceable Author Statement
    more info
    		  
    extracellular region IC
    Inferred by Curator
    more info
    		 PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    secretory granule TAS
    Traceable Author Statement
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    insulin
    Names
    insulin
    proinsulin
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007114.1 RefSeqGene

      Range
      4986..6416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000207.2 → NP_000198.1  insulin preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This transcript (1) represents the shortest variant. Variants 1-3 encode the same protein.
      Source sequence(s)
      BC005255, BM510748
      Consensus CDS
      CCDS7729.1
      UniProtKB/Swiss-Prot
      P01308
      Related
      ENSP00000370731, OTTHUMP00000011161, ENST00000381330, OTTHUMT00000026393
      Conserved Domains (1) summary
      cd04367
      Location:26 – 110
      Blast Score: 296
      IlGF_insulin_like; IlGF_like family, insulin_like subgroup, specific to vertebrates. Members include a number of peptides including insulin and insulin-like growth factors I and II, which play a variety of roles in controlling processes such as metabolism, growth and ...

    2. NM_001185097.1 → NP_001172026.1  insulin preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This transcript (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AY899304, BM510347, BP322143
      Consensus CDS
      CCDS7729.1
      UniProtKB/Swiss-Prot
      P01308
      Related
      ENSP00000250971, OTTHUMP00000011162, ENST00000250971, OTTHUMT00000026394
      Conserved Domains (1) summary
      cd04367
      Location:26 – 110
      Blast Score: 296
      IlGF_insulin_like; IlGF_like family, insulin_like subgroup, specific to vertebrates. Members include a number of peptides including insulin and insulin-like growth factors I and II, which play a variety of roles in controlling processes such as metabolism, growth and ...

    3. NM_001185098.1 → NP_001172027.1  insulin preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This transcript (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC132217, BM510347, BP322143
      Consensus CDS
      CCDS7729.1
      UniProtKB/Swiss-Prot
      P01308
      Related
      ENSP00000380432, OTTHUMP00000196038, ENST00000397262, OTTHUMT00000026395
      Conserved Domains (1) summary
      cd04367
      Location:26 – 110
      Blast Score: 296
      IlGF_insulin_like; IlGF_like family, insulin_like subgroup, specific to vertebrates. Members include a number of peptides including insulin and insulin-like growth factors I and II, which play a variety of roles in controlling processes such as metabolism, growth and ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      2181009..2182439, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      1971272..1972702, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC132217.15 (86434..87849) None
    genomic AJ009655.1 CAA08766.1
    genomic AY138590.1 AAN39451.1
    genomic CH471158.1 EAX02488.1
      EAX02489.1
    genomic J00265.1 AAA59172.1
    genomic L15440.1 AAA59179.1
    genomic M10039.1 AAA59173.1
    genomic V00565.1 CAA23828.1
    mRNA AY899304.1 AAW83741.1
    mRNA BC005255.1 AAH05255.1
    mRNA BM510347.1 None
    mRNA BM510748.1 None
    mRNA BP322143.1 None
    mRNA BT006808.1 AAP35454.1
    mRNA JF909299.1 AEG19452.1
    mRNA X70508.1 CAA49913.1
    other-genetic DQ893040.2 ABM83966.1
    other-genetic DQ896283.2 ABM87282.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01308.1 GenPept UniProtKB/Swiss-Prot:P01308
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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