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INSR insulin receptor [ Homo sapiens (human) ]

Gene ID: 3643, updated on 10-Apr-2021

Summary

Official Symbol
INSRprovided by HGNC
Official Full Name
insulin receptorprovided by HGNC
Primary source
HGNC:HGNC:6091
See related
Ensembl:ENSG00000171105 MIM:147670
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
HHF5; CD220
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 16.5), spleen (RPKM 15.9) and 25 other tissues See more
Orthologs
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Genomic context

See INSR in Genome Data Viewer
Location:
19p13.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7112257..7294414, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7112276..7294425, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 3 like 3 Neighboring gene zinc finger protein 557 Neighboring gene Rho/Rac guanine nucleotide exchange factor 18 Neighboring gene uncharacterized LOC107985284 Neighboring gene peroxisomal biogenesis factor 11 gamma

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 meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
GeneReviews: Not available
Genome-wide meta-analysis for severe diabetic retinopathy.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Hyperinsulinemic hypoglycemia familial 5
MedGen: C1864952 OMIM: 609968 GeneReviews: Familial Hyperinsulinism
Compare labs
Insulin-resistant diabetes mellitus AND acanthosis nigricans
MedGen: C0342278 OMIM: 610549 GeneReviews: Not available
Compare labs
Leprechaunism syndrome Compare labs
Novel associations for hypothyroidism include known autoimmune risk loci.
GeneReviews: Not available
Pineal hyperplasia AND diabetes mellitus syndrome Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
PTB domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
amyloid-beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
cargo receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
insulin binding IDA
Inferred from Direct Assay
more info
PubMed 
insulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin receptor substrate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin receptor substrate binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
insulin-like growth factor I binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin-like growth factor II binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin-like growth factor receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol 3-kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
activation of MAPK activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of protein kinase B activity IDA
Inferred from Direct Assay
more info
PubMed 
activation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
amyloid-beta clearance ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus IDA
Inferred from Direct Assay
more info
PubMed 
dendritic spine maintenance ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
glucose homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
insulin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
learning TAS
Traceable Author Statement
more info
PubMed 
memory TAS
Traceable Author Statement
more info
PubMed 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell population proliferation IC
Inferred by Curator
more info
PubMed 
positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of developmental growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glucose import IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of glucose import NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of glycogen biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of glycolytic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of mitotic nuclear division IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nitric oxide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein kinase B signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein-containing complex disassembly ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of receptor internalization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of respiratory burst IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
receptor-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
transformation of host cell by virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
caveola IDA
Inferred from Direct Assay
more info
PubMed 
dendrite membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
external side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
insulin receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
insulin receptor complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IEA
Inferred from Electronic Annotation
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear lumen IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IC
Inferred by Curator
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
insulin receptor
Names
IR
NP_000199.2
NP_001073285.1
XP_011526290.2
XP_011526291.2

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_008852.2 RefSeqGene

    Range
    4587..186736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000208.4NP_000199.2  insulin receptor isoform Long preproprotein

    See identical proteins and their annotated locations for NP_000199.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (Long).
    Source sequence(s)
    AC010606, AC125387, AK025527, BC117172, BU684722, HY015976, M10051, X02160
    Consensus CDS
    CCDS12176.1
    UniProtKB/Swiss-Prot
    P06213
    Related
    ENSP00000303830.4, ENST00000302850.10
    Conserved Domains (6) summary
    cd05061
    Location:10161303
    PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
    cd00063
    Location:867944
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00064
    Location:234281
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:179337
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:359472
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:10231290
    Pkinase_Tyr; Protein tyrosine kinase
  2. NM_001079817.3NP_001073285.1  insulin receptor isoform Short preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (Short) has the same N- and C-termini but is shorter compared to isoform Long.
    Source sequence(s)
    AC010606, AC125387, AK025527, BC117172, BU684722, HY015976, M10051, X02160
    Consensus CDS
    CCDS42487.1
    UniProtKB/Swiss-Prot
    P06213
    Related
    ENSP00000342838.4, ENST00000341500.9
    Conserved Domains (6) summary
    cd05061
    Location:10041291
    PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
    cd00063
    Location:855932
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00064
    Location:234281
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:179337
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:359472
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:10111278
    Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    7112257..7294414 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527989.3XP_011526291.2  insulin receptor isoform X2

  2. XM_011527988.2XP_011526290.2  insulin receptor isoform X1

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