INS | ENSG00000254647 | NCBI 3630

Details for: INS

Gene ID: 3630

Symbol: INS

Ensembl ID: ENSG00000254647

Description: insulin

Associated with

Amyloid fiber formation
(R-HSA-977225)
Asparagine n-linked glycosylation
(R-HSA-446203)
Copi-mediated anterograde transport
(R-HSA-6807878)
Developmental biology
(R-HSA-1266738)
Er to golgi anterograde transport
(R-HSA-199977)
Foxo-mediated transcription
(R-HSA-9614085)
Foxo-mediated transcription of oxidative stress, metabolic and neuronal genes
(R-HSA-9615017)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Insulin processing
(R-HSA-264876)
Insulin receptor recycling
(R-HSA-77387)
Insulin receptor signalling cascade
(R-HSA-74751)
Integration of energy metabolism
(R-HSA-163685)
Intracellular signaling by second messengers
(R-HSA-9006925)
Irs activation
(R-HSA-74713)
Membrane trafficking
(R-HSA-199991)
Metabolism
(R-HSA-1430728)
Metabolism of proteins
(R-HSA-392499)
Negative regulation of the pi3k/akt network
(R-HSA-199418)
Npas4 regulates expression of target genes
(R-HSA-9768919)
Peptide hormone metabolism
(R-HSA-2980736)
Pi5p, pp2a and ier3 regulate pi3k/akt signaling
(R-HSA-6811558)
Pip3 activates akt signaling
(R-HSA-1257604)
Post-translational protein modification
(R-HSA-597592)
Regulation of beta-cell development
(R-HSA-186712)
Regulation of gene expression in beta cells
(R-HSA-210745)
Regulation of insulin secretion
(R-HSA-422356)
Rna polymerase ii transcription
(R-HSA-73857)
Signal attenuation
(R-HSA-74749)
Signaling by insulin receptor
(R-HSA-74752)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Synthesis, secretion, and deacylation of ghrelin
(R-HSA-422085)
Transcriptional regulation by npas4
(R-HSA-9634815)
Transport to the golgi and subsequent modification
(R-HSA-948021)
Vesicle-mediated transport
(R-HSA-5653656)
Activation of protein kinase b activity
(GO:0032148)
Acute-phase response
(GO:0006953)
Alpha-beta t cell activation
(GO:0046631)
Cell-cell signaling
(GO:0007267)
Cognition
(GO:0050890)
Glucose homeostasis
(GO:0042593)
Glucose metabolic process
(GO:0006006)
G protein-coupled receptor signaling pathway
(GO:0007186)
Hormone activity
(GO:0005179)
Identical protein binding
(GO:0042802)
Insulin-like growth factor receptor binding
(GO:0005159)
Insulin receptor binding
(GO:0005158)
Insulin receptor signaling pathway
(GO:0008286)
Negative regulation of acute inflammatory response
(GO:0002674)
Negative regulation of fatty acid metabolic process
(GO:0045922)
Negative regulation of gene expression
(GO:0010629)
Negative regulation of gluconeogenesis
(GO:0045721)
Negative regulation of glycogen catabolic process
(GO:0045818)
Negative regulation of lipid catabolic process
(GO:0050995)
Negative regulation of nad(p)h oxidase activity
(GO:0033861)
Negative regulation of protein catabolic process
(GO:0042177)
Negative regulation of protein secretion
(GO:0050709)
Negative regulation of proteolysis
(GO:0045861)
Nitric oxide-cgmp-mediated signaling
(GO:0038060)
Positive regulation of cell differentiation
(GO:0045597)
Positive regulation of cell growth
(GO:0030307)
Positive regulation of cell migration
(GO:0030335)
Positive regulation of cell population proliferation
(GO:0008284)
Positive regulation of cytokine production
(GO:0001819)
Positive regulation of d-glucose import
(GO:0046326)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of glycogen biosynthetic process
(GO:0045725)
Positive regulation of glycolytic process
(GO:0045821)
Positive regulation of insulin receptor signaling pathway
(GO:0046628)
Positive regulation of lipid biosynthetic process
(GO:0046889)
Positive regulation of mapk cascade
(GO:0043410)
Positive regulation of mitotic nuclear division
(GO:0045840)
Positive regulation of neuron projection development
(GO:0010976)
Positive regulation of nf-kappab transcription factor activity
(GO:0051092)
Positive regulation of nitric-oxide synthase activity
(GO:0051000)
Positive regulation of nitric oxide mediated signal transduction
(GO:0010750)
Positive regulation of phosphatidylinositol 3-kinase/protein kinase b signal transduction
(GO:0051897)
Positive regulation of protein autophosphorylation
(GO:0031954)
Positive regulation of protein metabolic process
(GO:0051247)
Positive regulation of protein secretion
(GO:0050714)
Protease binding
(GO:0002020)
Protein binding
(GO:0005515)
Regulation of cellular amino acid metabolic process
(GO:0006521)
Regulation of dna-templated transcription
(GO:0006355)
Regulation of protein localization
(GO:0032880)
Regulation of protein secretion
(GO:0050708)
Regulation of synaptic plasticity
(GO:0048167)
Regulation of transmembrane transporter activity
(GO:0022898)
Vasodilation
(GO:0042311)
Wound healing
(GO:0042060)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: epithelial cell of exocrine pancreas (CL1001433)
Fold Change: 25.0094
Cell Significance Index: 12.5600
Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: 13.1504
Cell Significance Index: 216.7000
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.7728
Cell Significance Index: 88.5400
Cell Name: PP cell (CL0000696)
Fold Change: 0.3728
Cell Significance Index: 3.7900
Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: 0.2046
Cell Significance Index: 23.3600
Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
Fold Change: 0.1858
Cell Significance Index: 3.2000
Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
Fold Change: 0.0921
Cell Significance Index: 0.8500
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0864
Cell Significance Index: 14.7500
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: 0.0608
Cell Significance Index: 0.8700
Cell Name: mesangial cell (CL0000650)
Fold Change: 0.0514
Cell Significance Index: 0.6500
Cell Name: pancreatic D cell (CL0000173)
Fold Change: 0.0353
Cell Significance Index: 7.4300
Cell Name: B cell (CL0000236)
Fold Change: 0.0305
Cell Significance Index: 0.3600
Cell Name: pancreatic A cell (CL0000171)
Fold Change: 0.0085
Cell Significance Index: 6.2600
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 0.0002
Cell Significance Index: 0.0100
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: 0.0001
Cell Significance Index: 0.0400
Cell Name: adipocyte (CL0000136)
Fold Change: -0.0007
Cell Significance Index: -0.0100
Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.0022
Cell Significance Index: -0.0500
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0027
Cell Significance Index: -1.5100
Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
Fold Change: -0.0075
Cell Significance Index: -0.1500
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.0291
Cell Significance Index: -1.5100
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0299
Cell Significance Index: -8.5900
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0316
Cell Significance Index: -4.3400
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0332
Cell Significance Index: -5.9800
Cell Name: keratinocyte (CL0000312)
Fold Change: -0.0359
Cell Significance Index: -0.9000
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: -0.0364
Cell Significance Index: -0.4800
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0494
Cell Significance Index: -6.0700
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0570
Cell Significance Index: -11.4300
Cell Name: mucosal invariant T cell (CL0000940)
Fold Change: -0.0775
Cell Significance Index: -0.8900
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.0810
Cell Significance Index: -1.7500
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.0878
Cell Significance Index: -1.8400
Cell Name: microglial cell (CL0000129)
Fold Change: -0.0902
Cell Significance Index: -1.0600
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: -0.1093
Cell Significance Index: -1.3900
Cell Name: endocrine cell (CL0000163)
Fold Change: -0.1133
Cell Significance Index: -1.3700
Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.1171
Cell Significance Index: -6.1000
Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
Fold Change: -0.1265
Cell Significance Index: -1.6900
Cell Name: paneth cell (CL0000510)
Fold Change: -0.1311
Cell Significance Index: -1.3600
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1560
Cell Significance Index: -18.1800
Cell Name: ciliated cell (CL0000064)
Fold Change: -0.1575
Cell Significance Index: -1.7100
Cell Name: osteoblast (CL0000062)
Fold Change: -0.1719
Cell Significance Index: -1.6700
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.2061
Cell Significance Index: -6.0700
Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: -0.2200
Cell Significance Index: -2.7700
Cell Name: taste receptor cell (CL0000209)
Fold Change: -0.2873
Cell Significance Index: -3.3400
Cell Name: epithelial cell of lower respiratory tract (CL0002632)
Fold Change: -0.2940
Cell Significance Index: -3.2700
Cell Name: erythrocyte (CL0000232)
Fold Change: -0.3124
Cell Significance Index: -7.9600
Cell Name: epithelial cell (CL0000066)
Fold Change: -0.3289
Cell Significance Index: -3.4700
Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.3485
Cell Significance Index: -7.6300
Cell Name: T cell (CL0000084)
Fold Change: -0.3718
Cell Significance Index: -4.3900
Cell Name: enteroendocrine cell (CL0000164)
Fold Change: -0.4247
Cell Significance Index: -4.4900
Cell Name: glutamatergic neuron (CL0000679)
Fold Change: -0.4314
Cell Significance Index: -4.7000
Cell Name: thymocyte (CL0000893)
Fold Change: -0.4408
Cell Significance Index: -5.5700
Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
Fold Change: -0.4683
Cell Significance Index: -4.4400
Cell Name: vascular associated smooth muscle cell (CL0000359)
Fold Change: -0.4849
Cell Significance Index: -5.1500
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.4975
Cell Significance Index: -13.3300
Cell Name: chondrocyte (CL0000138)
Fold Change: -0.5214
Cell Significance Index: -6.0100
Cell Name: neural crest cell (CL0011012)
Fold Change: -0.5324
Cell Significance Index: -5.7800
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.5760
Cell Significance Index: -11.3900
Cell Name: radial glial cell (CL0000681)
Fold Change: -0.5814
Cell Significance Index: -3.4500
Cell Name: precursor B cell (CL0000817)
Fold Change: -0.5858
Cell Significance Index: -7.5800
Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.5871
Cell Significance Index: -9.8300
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: -0.6129
Cell Significance Index: -7.3300
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: -0.6294
Cell Significance Index: -5.3500
Cell Name: fibroblast of lung (CL0002553)
Fold Change: -0.6377
Cell Significance Index: -7.5800
Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
Fold Change: -0.6425
Cell Significance Index: -6.0100
Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: -0.6613
Cell Significance Index: -6.0900
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: -0.6686
Cell Significance Index: -4.3500
Cell Name: classical monocyte (CL0000860)
Fold Change: -0.6713
Cell Significance Index: -6.2500
Cell Name: squamous epithelial cell (CL0000076)
Fold Change: -0.6881
Cell Significance Index: -8.3700
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: -0.6909
Cell Significance Index: -10.2000
Cell Name: myofibroblast cell (CL0000186)
Fold Change: -0.7184
Cell Significance Index: -7.5300
Cell Name: pulmonary alveolar type 2 cell (CL0002063)
Fold Change: -0.7290
Cell Significance Index: -6.0300
Cell Name: granule cell (CL0000120)
Fold Change: -0.7422
Cell Significance Index: -8.4500
Cell Name: basophil (CL0000767)
Fold Change: -0.7493
Cell Significance Index: -6.9000
Cell Name: stellate neuron (CL0000122)
Fold Change: -0.7494
Cell Significance Index: -8.5100
Cell Name: macroglial cell (CL0000126)
Fold Change: -0.7592
Cell Significance Index: -8.7900
Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
Fold Change: -0.7630
Cell Significance Index: -8.4700
Cell Name: hematopoietic cell (CL0000988)
Fold Change: -0.7658
Cell Significance Index: -11.2000
Cell Name: astrocyte (CL0000127)
Fold Change: -0.7667
Cell Significance Index: -8.7800
Cell Name: vein endothelial cell (CL0002543)
Fold Change: -0.7711
Cell Significance Index: -8.3600
Cell Name: mast cell (CL0000097)
Fold Change: -0.7774
Cell Significance Index: -10.2300
Cell Name: oligodendrocyte (CL0000128)
Fold Change: -0.8012
Cell Significance Index: -8.5900
Cell Name: neuronal brush cell (CL0000555)
Fold Change: -0.8081
Cell Significance Index: -8.7700
Cell Name: endothelial cell (CL0000115)
Fold Change: -0.8778
Cell Significance Index: -10.7900
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: -0.8980
Cell Significance Index: -15.3500
Cell Name: acinar cell (CL0000622)
Fold Change: -0.9092
Cell Significance Index: -11.4200
Cell Name: fibroblast (CL0000057)
Fold Change: -0.9096
Cell Significance Index: -8.5400
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: -0.9174
Cell Significance Index: -12.5800
Cell Name: glioblast (CL0000030)
Fold Change: -0.9252
Cell Significance Index: -5.8100
Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.9375
Cell Significance Index: -29.6500
Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: -0.9452
Cell Significance Index: -11.4100
Cell Name: neuroendocrine cell (CL0000165)
Fold Change: -0.9641
Cell Significance Index: -12.2100
Cell Name: GABAergic neuron (CL0000617)
Fold Change: -0.9834
Cell Significance Index: -12.4100
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: -1.0358
Cell Significance Index: -11.3300
Cell Name: granulocyte (CL0000094)
Fold Change: -1.0520
Cell Significance Index: -12.6900
Cell Name: pericyte (CL0000669)
Fold Change: -1.0649
Cell Significance Index: -12.7700
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: -1.0752
Cell Significance Index: -12.6500
Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: -1.0861
Cell Significance Index: -14.9200
Cell Name: plasmacytoid dendritic cell (CL0000784)
Fold Change: -1.1247
Cell Significance Index: -14.7600
Cell Name: megakaryocyte (CL0000556)
Fold Change: -1.1416
Cell Significance Index: -18.4900
Cell Name: inhibitory motor neuron (CL0008015)
Fold Change: -1.1447
Cell Significance Index: -7.5900
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: -1.1502
Cell Significance Index: -11.3900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** 1. **Insulin Structure and Function**: Insulin is a polypeptide hormone composed of two chains (A and B) linked by disulfide bonds. It has a molecular weight of approximately 5.5 kDa and is produced by the beta cells of the pancreas. Insulin binds to insulin receptors on the surface of target cells, triggering a cascade of signaling pathways that regulate glucose uptake, storage, and metabolism. 2. **Cellular Expression**: The INS gene is expressed in various cell types, including endocrine cells, endothelial cells, and pancreatic stellate cells. It is also expressed in neoplastic cells and abnormal cells, suggesting its role in cancer development and progression. 3. **Regulation of Gene Expression**: The INS gene is regulated by various transcription factors, including NF-κB, FoxO, and Npas4. These transcription factors modulate the expression of insulin genes in response to changes in glucose levels, insulin signaling, and other cellular cues. **Pathways and Functions** 1. **Insulin Signaling Pathway**: Insulin binds to its receptor, triggering a cascade of signaling events that regulate glucose metabolism. The pathway involves the activation of PI3K/Akt, MAPK, and NF-κB pathways, which modulate glucose uptake, storage, and metabolism. 2. **Glucose Metabolism**: Insulin plays a critical role in regulating glucose metabolism, including glucose uptake, storage, and metabolism. It stimulates the uptake of glucose by target cells, inhibits glucose production in the liver, and promotes the storage of glucose as glycogen. 3. **Cellular Differentiation and Proliferation**: Insulin regulates cellular differentiation and proliferation by modulating the expression of genes involved in cell growth and survival. It also inhibits apoptosis (programmed cell death) in target cells. 4. **Inflammation and Immune Response**: Insulin has anti-inflammatory properties, regulating the expression of genes involved in inflammation and immune response. It also modulates the activity of immune cells, such as macrophages and T cells. **Clinical Significance** 1. **Diabetes Mellitus**: Abnormalities in the INS gene have been linked to various forms of diabetes mellitus, including type 1 and type 2 diabetes. Insulin therapy is a cornerstone of diabetes management, and understanding the molecular mechanisms of insulin signaling is crucial for developing new treatments. 2. **Insulin Resistance**: Insulin resistance is a hallmark of type 2 diabetes, characterized by impaired insulin signaling. Understanding the molecular mechanisms of insulin resistance is essential for developing new treatments, including targeted therapies and lifestyle interventions. 3. **Pancreatic Disorders**: The INS gene plays a critical role in pancreatic development and function. Abnormalities in the INS gene have been linked to various pancreatic disorders, including pancreatitis, pancreatic cancer, and pancreatic islet cell tumors. 4. **Cancer and Metabolic Disorders**: Insulin signaling has been implicated in cancer development and progression, particularly in tumors of the pancreas, breast, and colon. Understanding the molecular mechanisms of insulin signaling is essential for developing new cancer therapies. In conclusion, the INS gene plays a critical role in glucose homeostasis and energy metabolism, and its dysregulation has been linked to various diseases, including diabetes mellitus, insulin resistance, and pancreatic disorders. Further research on the molecular mechanisms of insulin signaling is essential for developing new treatments and improving patient outcomes.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Insulin

Genular Protein ID: 1023403707

Symbol: INS_HUMAN

Name: Insulin

UniProtKB Accession Codes:

P01308 Q5EEX2

Database IDs:

Citations:

PubMed ID: 6243748

Title: Sequence of the human insulin gene.

PubMed ID: 6243748

DOI: 10.1038/284026a0

PubMed ID: 6248962

Title: Genetic variation in the human insulin gene.

PubMed ID: 6248962

DOI: 10.1126/science.6248962

PubMed ID: 503234

Title: Nucleotide sequence of a cDNA clone encoding human preproinsulin.

PubMed ID: 503234

DOI: 10.1038/282525a0

PubMed ID: 6927840

Title: Nucleotide sequence of human preproinsulin complementary DNA.

PubMed ID: 6927840

DOI: 10.1126/science.6927840

PubMed ID: 8358440

Title: Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR.

PubMed ID: 8358440

DOI: 10.1038/ng0793-305

PubMed ID: 15070567

Title: Insulinomas and expression of an insulin splice variant.

PubMed ID: 15070567

DOI: 10.1016/s0140-6736(04)15438-x

PubMed ID: 12952878

Title: Global haplotype diversity in the human insulin gene region.

PubMed ID: 12952878

DOI: 10.1101/gr.948003

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14426955

Title: Amino-acid sequence of human insulin.

PubMed ID: 14426955

DOI: 10.1038/187483a0

PubMed ID: 5101771

Title: Studies on human proinsulin. Isolation and amino acid sequence of the human pancreatic C-peptide.

PubMed ID: 5101771

DOI: 10.1016/s0021-9258(19)76984-1

PubMed ID: 5560404

Title: The amino acid sequence of the C-peptide of human proinsulin.

PubMed ID: 5560404

DOI: 10.1111/j.1432-1033.1971.tb01378.x

PubMed ID: 4443293

Title: Total synthesis of human insulin under directed formation of the disulfide bonds.

PubMed ID: 4443293

DOI: 10.1002/hlca.19740570839

PubMed ID: 4803504

Title: Studies on polypeptides, IV. The synthesis of C-peptide of human proinsulin.

PubMed ID: 4803504

DOI: 10.1515/bchm2.1973.354.1.659

PubMed ID: 4698555

Title: Synthesis of peptides with the properties of human proinsulin C peptides (hC peptide). 3. Synthesis of the sequences 14-17 and 9-13 of human proinsulin C peptides.

PubMed ID: 4698555

DOI: 10.1002/cber.19731060124

PubMed ID: 4698553

Title: Synthesis of peptides with the properties of human proinsulin C peptides (hC peptide). I. Scheme for the synthesis and preparation of the sequence 28-31 of human proinsulin C peptide.

PubMed ID: 4698553

DOI: 10.1002/cber.19731060122

PubMed ID: 6312455

Title: Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin.

PubMed ID: 6312455

DOI: 10.1073/pnas.80.20.6366

PubMed ID: 6424111

Title: Identification of a mutant human insulin predicted to contain a serine-for-phenylalanine substitution.

PubMed ID: 6424111

DOI: 10.1073/pnas.80.24.7390

PubMed ID: 3470784

Title: A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.

PubMed ID: 3470784

DOI: 10.1073/pnas.84.8.2194

PubMed ID: 3537011

Title: Structurally abnormal insulin in a diabetic patient. Characterization of the mutant insulin A3 (Val-->Leu) isolated from the pancreas.

PubMed ID: 3537011

DOI: 10.1172/jci112760

PubMed ID: 2196279

Title: Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.

PubMed ID: 2196279

DOI: 10.1210/jcem-71-1-164

PubMed ID: 4019786

Title: Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.

PubMed ID: 4019786

DOI: 10.1172/jci111973

PubMed ID: 1601997

Title: A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).

PubMed ID: 1601997

DOI: 10.1172/jci115795

PubMed ID: 2271664

Title: Toward the solution structure of human insulin: sequential 2D 1H NMR assignment of a des-pentapeptide analogue and comparison with crystal structure.

PubMed ID: 2271664

DOI: 10.1021/bi00498a018

PubMed ID: 2036420

Title: Comparative 2D NMR studies of human insulin and des-pentapeptide insulin: sequential resonance assignment and implications for protein dynamics and receptor recognition.

PubMed ID: 2036420

DOI: 10.1021/bi00236a025

PubMed ID: 1646635

Title: Two-dimensional NMR studies of Des-(B26-B30)-insulin: sequence-specific resonance assignments and effects of solvent composition.

PubMed ID: 1646635

DOI: 10.1016/0167-4838(91)90098-k

PubMed ID: 1433291

Title: Three-dimensional solution structure of an insulin dimer. A study of the B9(Asp) mutant of human insulin using nuclear magnetic resonance, distance geometry and restrained molecular dynamics.

PubMed ID: 1433291

DOI: 10.1016/0022-2836(92)90527-q

PubMed ID: 8421693

Title: Paradoxical structure and function in a mutant human insulin associated with diabetes mellitus.

PubMed ID: 8421693

DOI: 10.1073/pnas.90.2.582

PubMed ID: 9235985

Title: Solution structures of the R6 human insulin hexamer.

PubMed ID: 9235985

DOI: 10.1021/bi9631069

PubMed ID: 17855560

Title: Insulin gene mutations as a cause of permanent neonatal diabetes.

PubMed ID: 17855560

DOI: 10.1073/pnas.0707291104

PubMed ID: 18162506

Title: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

PubMed ID: 18162506

DOI: 10.2337/db07-1405

PubMed ID: 18192540

Title: Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.

PubMed ID: 18192540

DOI: 10.2337/db07-1467

PubMed ID: 20226046

Title: Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

PubMed ID: 20226046

DOI: 10.1186/1471-2350-11-42

PubMed ID: 25423173

Title: Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young.

PubMed ID: 25423173

DOI: 10.1371/journal.pone.0112883

Sequence Information:

Length: 110
Mass: 11981
Checksum: C2C3B23B85E520E5
Sequence:

MALWMRLLPL LALLALWGPD PAAAFVNQHL CGSHLVEALY LVCGERGFFY TPKTRREAED 
LQVGQVELGG GPGAGSLQPL ALEGSLQKRG IVEQCCTSIC SLYQLENYCN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: INS

Associated with

Cells (max top 100)

Other Information

Sequence of the human insulin gene. PubMed ID: 6243748

Genetic variation in the human insulin gene. PubMed ID: 6248962

Nucleotide sequence of a cDNA clone encoding human preproinsulin. PubMed ID: 503234

Nucleotide sequence of human preproinsulin complementary DNA. PubMed ID: 6927840

Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. PubMed ID: 8358440

Insulinomas and expression of an insulin splice variant. PubMed ID: 15070567

Global haplotype diversity in the human insulin gene region. PubMed ID: 12952878

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Amino-acid sequence of human insulin. PubMed ID: 14426955

Studies on human proinsulin. Isolation and amino acid sequence of the human pancreatic C-peptide. PubMed ID: 5101771

The amino acid sequence of the C-peptide of human proinsulin. PubMed ID: 5560404

Total synthesis of human insulin under directed formation of the disulfide bonds. PubMed ID: 4443293

Studies on polypeptides, IV. The synthesis of C-peptide of human proinsulin. PubMed ID: 4803504

Synthesis of peptides with the properties of human proinsulin C peptides (hC peptide). 3. Synthesis of the sequences 14-17 and 9-13 of human proinsulin C peptides. PubMed ID: 4698555

Synthesis of peptides with the properties of human proinsulin C peptides (hC peptide). I. Scheme for the synthesis and preparation of the sequence 28-31 of human proinsulin C peptide. PubMed ID: 4698553

Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin. PubMed ID: 6312455

Identification of a mutant human insulin predicted to contain a serine-for-phenylalanine substitution. PubMed ID: 6424111

A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia. PubMed ID: 3470784

Structurally abnormal insulin in a diabetic patient. Characterization of the mutant insulin A3 (Val--&gt;Leu) isolated from the pancreas. PubMed ID: 3537011

Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction. PubMed ID: 2196279

Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia. PubMed ID: 4019786

A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto). PubMed ID: 1601997

Toward the solution structure of human insulin: sequential 2D 1H NMR assignment of a des-pentapeptide analogue and comparison with crystal structure. PubMed ID: 2271664

Comparative 2D NMR studies of human insulin and des-pentapeptide insulin: sequential resonance assignment and implications for protein dynamics and receptor recognition. PubMed ID: 2036420

Two-dimensional NMR studies of Des-(B26-B30)-insulin: sequence-specific resonance assignments and effects of solvent composition. PubMed ID: 1646635

Three-dimensional solution structure of an insulin dimer. A study of the B9(Asp) mutant of human insulin using nuclear magnetic resonance, distance geometry and restrained molecular dynamics. PubMed ID: 1433291

Paradoxical structure and function in a mutant human insulin associated with diabetes mellitus. PubMed ID: 8421693

Solution structures of the R6 human insulin hexamer. PubMed ID: 9235985

Insulin gene mutations as a cause of permanent neonatal diabetes. PubMed ID: 17855560

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. PubMed ID: 18162506

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. PubMed ID: 18192540

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). PubMed ID: 20226046

Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young. PubMed ID: 25423173