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    INS insulin [ Homo sapiens (human) ]

    Gene ID: 3630, updated on 8-Jul-2021

    Summary

    Official Symbol
    INSprovided by HGNC
    Official Full Name
    insulinprovided by HGNC
    Primary source
    HGNC:HGNC:6081
    See related
    Ensembl:ENSG00000254647 MIM:176730
    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
    IDDM; ILPR; IRDN; IDDM1; IDDM2; PNDM4; MODY10
    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, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. 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. [provided by RefSeq, May 2020]
    Expression
    Restricted expression toward pancreas (RPKM 671.7) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See INS in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2159779..2161209, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2181009..2182439, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene INS-IGF2 readthrough Neighboring gene insulin like growth factor 2 Neighboring gene microRNA 483 Neighboring gene IGF2 antisense RNA Neighboring gene insulin repeat instability region Neighboring gene tyrosine hydroxylase Neighboring gene microRNA 4686

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
    GeneReviews: Not available
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    GeneReviews: Not available
    Diabetes mellitus, insulin-dependent, 2
    MedGen: C1852092 OMIM: 125852 GeneReviews: Not available
    Compare labs
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    GeneReviews: Not available
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    GeneReviews: Not available
    Hyperproinsulinemia
    MedGen: C0342283 OMIM: 616214 GeneReviews: Not available
    Compare labs
    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
    GeneReviews: Not available
    Maturity-onset diabetes of the young, type 10 Compare labs
    Permanent neonatal diabetes mellitus Compare labs
    Permanent neonatal diabetes mellitus 4
    MedGen: C5394307 OMIM: 618858 GeneReviews: Not available
    Compare labs
    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-03-22)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-03-22)

    ClinGen Genome Curation Page

    HIV-1 interactions

    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 Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough INS-IGF2

    Readthrough gene: INS-IGF2, Included gene: IGF2

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IC
    Inferred by Curator
    more info
    PubMed 
    enables hormone activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables hormone activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables insulin receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables insulin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables insulin-like growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activation of protein kinase B activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in acute-phase response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in alpha-beta T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-cell signaling IC
    Inferred by Curator
    more info
    PubMed 
    involved_in cognition TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in fatty acid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of NAD(P)H oxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of acute inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of feeding behavior IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gluconeogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of glycogen catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lipid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lipid catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of reactive oxygen species biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of respiratory burst involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron projection maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in nitric oxide-cGMP-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of brown fat cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cellular protein metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of dendritic spine maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of glucose import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of glycolytic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of insulin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of lipid biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of long-term synaptic potentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of nitric oxide mediated signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of nitric oxide mediated signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of nitric-oxide synthase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of peptide hormone secretion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein autophosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of protein kinase B signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of respiratory burst IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cellular amino acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of protein localization to plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of synaptic plasticity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vasodilation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vasodilation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    located_in endosome lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region IC
    Inferred by Curator
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in transport vesicle TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    insulin
    Names
    preproinsulin
    proinsulin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000207.3NP_000198.1  insulin preproprotein

      See identical proteins and their annotated locations for NP_000198.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest variant. All variants encode the same protein.
      Source sequence(s)
      BC005255, BM510748
      Consensus CDS
      CCDS7729.1
      UniProtKB/Swiss-Prot
      P01308
      UniProtKB/TrEMBL
      I3WAC9
      Related
      ENSP00000370731.5, ENST00000381330.5
      Conserved Domains (1) summary
      cd04367
      Location:26110
      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_001185097.2NP_001172026.1  insulin preproprotein

      See identical proteins and their annotated locations for NP_001172026.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AY899304, BM510347, BP322143
      Consensus CDS
      CCDS7729.1
      UniProtKB/Swiss-Prot
      P01308
      UniProtKB/TrEMBL
      I3WAC9
      Related
      ENSP00000250971.3, ENST00000250971.7
      Conserved Domains (1) summary
      cd04367
      Location:26110
      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_001185098.2NP_001172027.1  insulin preproprotein

      See identical proteins and their annotated locations for NP_001172027.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AC132217, BM510347, BP322143
      Consensus CDS
      CCDS7729.1
      UniProtKB/Swiss-Prot
      P01308
      UniProtKB/TrEMBL
      I3WAC9
      Related
      ENSP00000380432.1, ENST00000397262.5
      Conserved Domains (1) summary
      cd04367
      Location:26110
      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 ...
    4. NM_001291897.2NP_001278826.1  insulin preproprotein

      See identical proteins and their annotated locations for NP_001278826.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AC132217, BM510347
      Consensus CDS
      CCDS7729.1
      UniProtKB/Swiss-Prot
      P01308
      UniProtKB/TrEMBL
      I3WAC9
      Conserved Domains (1) summary
      cd04367
      Location:26110
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      2159779..2161209 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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