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IRS1 insulin receptor substrate 1 [ Homo sapiens (human) ]

Gene ID: 3667, updated on 4-Jun-2020

Summary

Official Symbol
IRS1provided by HGNC
Official Full Name
insulin receptor substrate 1provided by HGNC
Primary source
HGNC:HGNC:6125
See related
Ensembl:ENSG00000169047 MIM:147545
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
HIRS-1
Summary
This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]
Expression
Broad expression in thyroid (RPKM 15.0), endometrium (RPKM 12.3) and 22 other tissues See more
Orthologs

Genomic context

See IRS1 in Genome Data Viewer
Location:
2q36.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (226731317..226798790, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (227596033..227664545, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2633 Neighboring gene microRNA 5702 Neighboring gene rhomboid domain containing 1 Neighboring gene collagen type IV alpha 4 chain Neighboring gene collagen type IV alpha 3 chain Neighboring gene MFF divergent transcript

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
Diabetes mellitus type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.
NHGRI GWA Catalog
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
NHGRI GWA Catalog
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
NHGRI GWA Catalog
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
NHGRI GWA Catalog

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
SH2 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
insulin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin-like growth factor receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol 3-kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol 3-kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol 3-kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphotyrosine residue binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase C binding ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor signaling complex scaffold activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
cellular response to fatty acid ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to insulin stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose homeostasis TAS
Traceable Author Statement
more info
PubMed 
insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
insulin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin receptor signaling pathway IPI
Inferred from Physical Interaction
more info
PubMed 
insulin-like growth factor receptor signaling pathway IPI
Inferred from Physical Interaction
more info
PubMed 
interleukin-7-mediated signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of insulin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of insulin secretion IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-mediated signaling TAS
Traceable Author Statement
more info
 
positive regulation of cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of fatty acid beta-oxidation 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glycogen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glycogen biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of insulin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of phosphatidylinositol 3-kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
response to insulin IDA
Inferred from Direct Assay
more info
PubMed 
response to peptide hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
caveola IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
insulin receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular membrane-bounded organelle ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
insulin receptor substrate 1
Names
IRS-1

NCBI Reference Sequences (RefSeq)

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_015830.1 RefSeqGene

    Range
    5001..72474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005544.2NP_005535.1  insulin receptor substrate 1

    See identical proteins and their annotated locations for NP_005535.1

    Status: REVIEWED

    Source sequence(s)
    AC010735, AW469017, BC053895
    Consensus CDS
    CCDS2463.1
    UniProtKB/Swiss-Prot
    P35568
    UniProtKB/TrEMBL
    A0A024R499
    Related
    ENSP00000304895.4, ENST00000305123.5
    Conserved Domains (2) summary
    cd01204
    Location:160263
    PTB_IRS; Insulin receptor substrate phosphotyrosine-binding domain (PTBi)
    cd01257
    Location:11118
    PH_IRS; Insulin receptor substrate (IRS) pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    226731317..226798790 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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