INS insulin [Homo sapiens (human)] - Gene

Summary

Official Symbol: INSprovided by HGNC
Official Full Name: insulinprovided by HGNC
Primary source: HGNC:HGNC:6081
See related: Ensembl:ENSG00000254647 MIM:176730; AllianceGenome:HGNC:6081
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: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (2159779..2161209, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (2247427..2248857, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (2181009..2182439, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of polymorphism of NLRP3, ICAM-1, PTPN22, INS genes in childhood onset type 1 diabetes in a Pakistani population.
Title: Association of polymorphism of NLRP3, ICAM-1, PTPN22, INS genes in childhood onset type 1 diabetes in a Pakistani population.
Insulin regulation of regional lipolysis in upper-body obese and lean humans.
Title: Insulin regulation of regional lipolysis in upper-body obese and lean humans.
Clinical, glycometric features and treatment in a family with monogenic diabetes due to a new mutation in the insulin gene.
Title: Clinical, glycometric features and treatment in a family with monogenic diabetes due to a new mutation in the insulin gene.
Association of tyrosine hydroxylase 01 (TH01) microsatellite and insulin gene (INS) variable number of tandem repeat (VNTR) with type 2 diabetes and fasting insulin secretion in Mexican population.
Title: Association of tyrosine hydroxylase 01 (TH01) microsatellite and insulin gene (INS) variable number of tandem repeat (VNTR) with type 2 diabetes and fasting insulin secretion in Mexican population.
Positive association between proinsulin and fatty liver index in people with type 2 diabetes.
Title: Positive association between proinsulin and fatty liver index in people with type 2 diabetes.
Maternal fasting serum C-peptide concentrations in the first and second trimesters and subsequent risk of gestational diabetes mellitus: A nested case-control study among Chinese women.
Title: Maternal fasting serum C-peptide concentrations in the first and second trimesters and subsequent risk of gestational diabetes mellitus: A nested case-control study among Chinese women.
Advances in the study of the correlation between insulin resistance and infertility.
Title: Advances in the study of the correlation between insulin resistance and infertility.
The Concentrations of Interleukin-6, Insulin, and Glucagon in the Context of Obesity and Type 2 Diabetes and Single Nucleotide Polymorphisms in IL6 and INS Genes.
Title: The Concentrations of Interleukin-6, Insulin, and Glucagon in the Context of Obesity and Type 2 Diabetes and Single Nucleotide Polymorphisms in IL6 and INS Genes.
Insulin-mediated endothelin signaling is antiviral during West Nile virus infection.
Title: Insulin-mediated endothelin signaling is antiviral during West Nile virus infection.
Interplay of Angiotensin Peptides, Vasopressin, and Insulin in the Heart: Experimental and Clinical Evidence of Altered Interactions in Obesity and Diabetes Mellitus.
Title: Interplay of Angiotensin Peptides, Vasopressin, and Insulin in the Heart: Experimental and Clinical Evidence of Altered Interactions in Obesity and Diabetes Mellitus.

Submit: New GeneRIF Correction See all GeneRIFs (786)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diabetes mellitus, permanent neonatal 4 MedGen: C5394307 OMIM: 618858 GeneReviews: Permanent Neonatal Diabetes Mellitus	Compare labs
Hyperproinsulinemia MedGen: C0342283 OMIM: 616214 GeneReviews: Not available	Compare labs
Maturity-onset diabetes of the young type 10 MedGen: C3150617 OMIM: 613370 GeneReviews: Maturity-Onset Diabetes of the Young Overview	Compare labs
Permanent neonatal diabetes mellitus MedGen: C1833104 GeneReviews: Permanent Neonatal Diabetes Mellitus	Compare labs
Type 1 diabetes mellitus 2 MedGen: C1852092 OMIM: 125852 GeneReviews: Not available	Compare labs

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

EBI GWAS Catalog

Description
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. EBI GWAS Catalog EBI GWAS CatalogPubMed
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC24644P6 (e-PCR)
- UniSTS:265494

Ins1 (e-PCR), detects polymorphism
- UniSTS:265494

REN117096 (e-PCR)
- UniSTS:441891

ECD01817 (e-PCR)
- UniSTS:282918

ECD03418 (e-PCR)
- UniSTS:284500

PMC123023P3 (e-PCR)
- UniSTS:270424

GDB:197907 (e-PCR)
- UniSTS:155998

RH75852 (e-PCR)
- UniSTS:87396

GDB:181496 (e-PCR)
- UniSTS:155248

PMC21231P1 (e-PCR)
- UniSTS:272021

G44339 (e-PCR)
- UniSTS:95126

GDB:316225 (e-PCR)
- UniSTS:156578

GDB:179433 (e-PCR)
- UniSTS:155046

ECD04020 (e-PCR)
- UniSTS:285099

Ins1 (e-PCR), detects polymorphism
- UniSTS:256685

GDB:180498 (e-PCR)
- UniSTS:155106

Ins2 (e-PCR), detects polymorphism
- UniSTS:259556

Readthrough INS-IGF2

Readthrough gene: INS-IGF2, Included gene: IGF2

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	IBA Inferred from Biological aspect of Ancestor more info
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 insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype 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
acts_upstream_of negative regulation of gene expression	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	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of D-glucose import	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 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 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 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 neuron projection development	IC Inferred by Curator 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/protein kinase B signal transduction	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 localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of respiratory burst	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of 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 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
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor 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

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Preferred Names: insulin

Names: preproinsulin; proinsulin

NCBI Reference Sequences (RefSeq)

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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

NG_007114.1 RefSeqGene

Range

4986..6416

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000207.3 → NP_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, Q5EEX2

UniProtKB/TrEMBL

A6XGL2, I3WAC9

Related

ENSP00000370731.5, ENST00000381330.5

Conserved Domains (1) summary

cd04367
Location:26 → 110

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 ...
NM_001185097.2 → NP_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, Q5EEX2

UniProtKB/TrEMBL

A6XGL2, I3WAC9

Related

ENSP00000250971.3, ENST00000250971.7

Conserved Domains (1) summary

cd04367
Location:26 → 110

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 ...
NM_001185098.2 → NP_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, Q5EEX2

UniProtKB/TrEMBL

A6XGL2, I3WAC9

Related

ENSP00000380432.1, ENST00000397262.5

Conserved Domains (1) summary

cd04367
Location:26 → 110

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 ...
NM_001291897.2 → NP_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, Q5EEX2

UniProtKB/TrEMBL

A6XGL2, I3WAC9

Conserved Domains (1) summary

cd04367
Location:26 → 110

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 ...