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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
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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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