Gene Gene information from NCBI Gene database.
Entrez ID 3667
Gene name Insulin receptor substrate 1
Gene symbol IRS1
Synonyms (NCBI Gene)
HIRS-1
Chromosome 2
Chromosome location 2q36.3
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]
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1801278 C>G,T Risk-factor Coding sequence variant, missense variant
rs104893642 G>A,C Pathogenic Coding sequence variant, missense variant
rs1259467443 ACC>- Pathogenic Coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
1509
miRTarBase ID miRNA Experiments Reference
MIRT003807 hsa-miR-7-5p Western blot 18483236
MIRT004355 hsa-miR-126-3p qRT-PCRLuciferase reporter assayWestern blot 18834857
MIRT000731 hsa-miR-145-5p Review 19574400
MIRT000731 hsa-miR-145-5p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 17827156
MIRT000731 hsa-miR-145-5p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 17827156
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
GO ID Ontology Definition Evidence Reference
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity ISS
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity TAS 1648180
GO:0005080 Function Protein kinase C binding ISS
GO:0005102 Function Signaling receptor binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147545 6125 ENSG00000169047
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35568
Protein name Insulin receptor substrate 1 (IRS-1)
Protein function Signaling adapter protein that participates in the signal transduction from two prominent receptor tyrosine kinases, insulin receptor/INSR and insulin-like growth factor I receptor/IGF1R (PubMed:7541045, PubMed:33991522, PubMed:38625937). Plays
PDB 1IRS , 1K3A , 1QQG , 2Z8C , 5U1M , 6BNT , 7PPL , 7PPM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 7 114 PH domain Domain
PF02174 IRS 160 262 PTB domain (IRS-1 type) Domain
Sequence
MASPPESDGFSDVRKVGYLRKPKSMHKRFFVLRAASEAGGPARLEYYENEKKWRHKSSAP
KRSIPLESCFNINKRADSKNKHLVALYTRDEHFAIAADSEAEQDSWYQALLQLH
NRAKGH
HDGAAALGAGGGGGSCSGSSGLGEAGEDLSYGDVPPGPAFKEVWQVILKPKGLGQTKNLI
GIYRLCLTSKTISFVKLNSEAAAVVLQLMNIRRCGHSENFFFIEVGRSAVTGPGEFWMQV
DDSVVAQNMHETILEAMRAMSD
EFRPRSKSQSSSNCSNPISVPLRRHHLNNPPPSQVGLT
RRSRTESITATSPASMVGGKPGSFRVRASSDGEGTMSRPASVDGSPVSPSTNRTHAHRHR
GSARLHPPLNHSRSIPMPASRCSPSATSPVSLSSSSTSGHGSTSDCLFPRRSSASVSGSP
SDGGFISSDEYGSSPCDFRSSFRSVTPDSLGHTPPARGEEELSNYICMGGKGPSTLTAPN
GHYILSRGGNGHRCTPGTGLGTSPALAGDEAASAADLDNRFRKRTHSAGTSPTITHQKTP
SQSSVASIEEYTEMMPAYPPGGGSGGRLPGHRHSAFVPTRSYPEEGLEMHPLERRGGHHR
PDSSTLHTDDGYMPMSPGVAPVPSGRKGSGDYMPMSPKSVSAPQQIINPIRRHPQRVDPN
GYMMMSPSGGCSPDIGGGPSSSSSSSNAVPSGTSYGKLWTNGVGGHHSHVLPHPKPPVES
SGGKLLPCTGDYMNMSPVGDSNTSSPSDCYYGPEDPQHKPVLSYYSLPRSFKHTQRPGEP
EEGARHQHLRLSTSSGRLLYAATADDSSSSTSSDSLGGGYCGARLEPSLPHPHHQVLQPH
LPRKVDTAAQTNSRLARPTRLSLGDPKASTLPRAREQQQQQQPLLHPPEPKSPGEYVNIE
FGSDQSGYLSGPVAFHSSPSVRCPSQLQPAPREEETGTEEYMKMDLGPGRRAAWQESTGV
EMGRLGPAPPGAASICRPTRAVPSSRGDYMTMQMSCPRQSYVDTSPAAPVSYADMRTGIA
AEEVSLPRATMAAASSSSAASASPTGPQGAAELAAHSSLLGGPQGPGGMSAFTRVNLSPN
RNQSAKVIRADPQGCRRRHSSETFSSTPSATRVGNTVPFGAGAAVGGGGGSSSSSEDVKR
HSSASFENVWLRPGELGGAPKEPAKLCGAAGGLENGLNYIDLDLVKDFKQCPQECTPEPQ
PPPPPPPHQPLGSGESSSTRRSSEDLSAYASISFQKQPEDRQ
Sequence length 1242
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cGMP-PKG signaling pathway
FoxO signaling pathway
Hormone signaling
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Neurotrophin signaling pathway
Insulin signaling pathway
Adipocytokine signaling pathway
Regulation of lipolysis in adipocytes
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
Growth hormone synthesis, secretion and action
Aldosterone-regulated sodium reabsorption
Alzheimer disease
MicroRNAs in cancer
Diabetic cardiomyopathy
  PI3K Cascade
IRS-mediated signalling
SOS-mediated signalling
PIP3 activates AKT signaling
Interleukin-7 signaling
PI3K/AKT activation
Constitutive Signaling by Aberrant PI3K in Cancer
IRS-related events triggered by IGF1R
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
IRS activation
Signal attenuation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Type 2 diabetes mellitus Pathogenic rs1259467443, rs104893642 RCV000022623
RCV000022626
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Insulin resistance, susceptibility to Benign rs1801278 RCV000022624
IRS1-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign rs200142054, rs973649983, rs142818292, rs556393597, rs200698564, rs138975702, rs1801276, rs757010026 RCV003963244
RCV003399712
RCV003974584
RCV003951859
RCV003944457
RCV003969298
RCV003980209
RCV003980210
RCV003933070
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 36011374
Adenocarcinoma Associate 31393907, 32821075
Adenocarcinoma of Lung Associate 26314828
Adenoma Stimulate 22558377
Adenomatous Polyposis Coli Stimulate 22558377
AIDS Associated Nephropathy Associate 22629383
Alopecia Associate 36011374
Alzheimer Disease Associate 22476197, 25342129, 28105773
Anhedonia Associate 32536688
Aromatase deficiency Associate 20101208