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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
CD markers Disease related genes Enzymes FDA approved drug targets Human disease related genes Plasma proteins RAS pathway related proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
p13.2
Chromosome location (bp)
7112255 - 7294414
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosine residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3, 4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti-apoptotic effect of insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway regulated by PI3K-AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 thereby activating mTORC1 pathway. The Ras/RAF/MAP2K/MAPK pathway is mainly involved in mediating cell growth, survival and cellular differentiation of insulin. Phosphorylated IRS1 recruits GRB2/SOS complex, which triggers the activation of the Ras/RAF/MAP2K/MAPK pathway. In addition to binding insulin, the insulin receptor can bind insulin-like growth factors (IGFI and IGFII). Isoform Short has a higher affinity for IGFII binding. When present in a hybrid receptor with IGF1R, binds IGF1. 1 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, 2 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin. In adipocytes, inhibits lipolysis (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Carbohydrate metabolism
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins RAS pathway related proteins Disease related genes FDA approved drug targets Biotech drugs Small molecule drugs Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000166[nucleotide binding] GO:0001540[amyloid-beta binding] GO:0001934[positive regulation of protein phosphorylation] GO:0002092[positive regulation of receptor internalization] GO:0003007[heart morphogenesis] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005009[insulin receptor activity] GO:0005159[insulin-like growth factor receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005525[GTP binding] GO:0005635[nuclear envelope] GO:0005764[lysosome] GO:0005768[endosome] GO:0005770[late endosome] GO:0005886[plasma membrane] GO:0005899[insulin receptor complex] GO:0005901[caveola] GO:0005975[carbohydrate metabolic process] GO:0006355[regulation of DNA-templated transcription] GO:0006468[protein phosphorylation] GO:0006898[receptor-mediated endocytosis] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007186[G protein-coupled receptor signaling pathway] GO:0007612[learning] GO:0007613[memory] GO:0008284[positive regulation of cell population proliferation] GO:0008286[insulin receptor signaling pathway] GO:0008544[epidermis development] GO:0008584[male gonad development] GO:0009887[animal organ morphogenesis] GO:0009897[external side of plasma membrane] GO:0010008[endosome membrane] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019904[protein domain specific binding] GO:0030238[male sex determination] GO:0030296[protein tyrosine kinase activator activity] GO:0030325[adrenal gland development] GO:0030335[positive regulation of cell migration] GO:0030424[axon] GO:0031017[exocrine pancreas development] GO:0031623[receptor internalization] GO:0031981[nuclear lumen] GO:0031994[insulin-like growth factor I binding] GO:0031995[insulin-like growth factor II binding] GO:0032147[activation of protein kinase activity] GO:0032148[activation of protein kinase B activity] GO:0032590[dendrite membrane] GO:0032809[neuronal cell body membrane] GO:0032869[cellular response to insulin stimulus] GO:0033674[positive regulation of kinase activity] GO:0038024[cargo receptor activity] GO:0038083[peptidyl-tyrosine autophosphorylation] GO:0042593[glucose homeostasis] GO:0042802[identical protein binding] GO:0043235[receptor complex] GO:0043243[positive regulation of protein-containing complex disassembly] GO:0043406[positive regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043539[protein serine/threonine kinase activator activity] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0043559[insulin binding] GO:0043560[insulin receptor substrate binding] GO:0044877[protein-containing complex binding] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045725[positive regulation of glycogen biosynthetic process] GO:0045821[positive regulation of glycolytic process] GO:0045840[positive regulation of mitotic nuclear division] GO:0045893[positive regulation of DNA-templated transcription] GO:0045995[regulation of embryonic development] GO:0046326[positive regulation of glucose import] GO:0046718[viral entry into host cell] GO:0046777[protein autophosphorylation] GO:0046935[1-phosphatidylinositol-3-kinase regulator activity] GO:0048639[positive regulation of developmental growth] GO:0051425[PTB domain binding] GO:0051446[positive regulation of meiotic cell cycle] GO:0051897[positive regulation of protein kinase B signaling] GO:0060267[positive regulation of respiratory burst] GO:0070062[extracellular exosome] GO:0071363[cellular response to growth factor stimulus] GO:0097062[dendritic spine maintenance] GO:0097242[amyloid-beta clearance] GO:0140677[molecular function activator activity] GO:0150104[transport across blood-brain barrier] GO:1990535[neuron projection maintenance] GO:2000194[regulation of female gonad development]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins RAS pathway related proteins Disease related genes FDA approved drug targets Biotech drugs Small molecule drugs Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000166[nucleotide binding] GO:0001540[amyloid-beta binding] GO:0001934[positive regulation of protein phosphorylation] GO:0002092[positive regulation of receptor internalization] GO:0003007[heart morphogenesis] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005009[insulin receptor activity] GO:0005159[insulin-like growth factor receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005525[GTP binding] GO:0005635[nuclear envelope] GO:0005764[lysosome] GO:0005768[endosome] GO:0005770[late endosome] GO:0005886[plasma membrane] GO:0005899[insulin receptor complex] GO:0005901[caveola] GO:0005975[carbohydrate metabolic process] GO:0006355[regulation of DNA-templated transcription] GO:0006468[protein phosphorylation] GO:0006898[receptor-mediated endocytosis] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007186[G protein-coupled receptor signaling pathway] GO:0007612[learning] GO:0007613[memory] GO:0008284[positive regulation of cell population proliferation] GO:0008286[insulin receptor signaling pathway] GO:0009897[external side of plasma membrane] GO:0010008[endosome membrane] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019904[protein domain specific binding] GO:0030335[positive regulation of cell migration] GO:0030424[axon] GO:0031981[nuclear lumen] GO:0031994[insulin-like growth factor I binding] GO:0031995[insulin-like growth factor II binding] GO:0032147[activation of protein kinase activity] GO:0032148[activation of protein kinase B activity] GO:0032590[dendrite membrane] GO:0032809[neuronal cell body membrane] GO:0032869[cellular response to insulin stimulus] GO:0033674[positive regulation of kinase activity] GO:0038024[cargo receptor activity] GO:0042593[glucose homeostasis] GO:0043235[receptor complex] GO:0043243[positive regulation of protein-containing complex disassembly] GO:0043406[positive regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0043559[insulin binding] GO:0043560[insulin receptor substrate binding] GO:0044877[protein-containing complex binding] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045725[positive regulation of glycogen biosynthetic process] GO:0045821[positive regulation of glycolytic process] GO:0045840[positive regulation of mitotic nuclear division] GO:0045995[regulation of embryonic development] GO:0046326[positive regulation of glucose import] GO:0046718[viral entry into host cell] GO:0046777[protein autophosphorylation] GO:0048639[positive regulation of developmental growth] GO:0051425[PTB domain binding] GO:0051897[positive regulation of protein kinase B signaling] GO:0060267[positive regulation of respiratory burst] GO:0070062[extracellular exosome] GO:0097062[dendritic spine maintenance] GO:0097242[amyloid-beta clearance] GO:0150104[transport across blood-brain barrier] GO:1990535[neuron projection maintenance]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
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