Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3667
Gene name Gene Name - the full gene name approved by the HGNC.
Insulin receptor substrate 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRS1
Synonyms (NCBI Gene) Gene synonyms aliases
HIRS-1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q36.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003807 hsa-miR-7-5p Western blot 18483236
MIRT004355 hsa-miR-126-3p qRT-PCR, Luciferase reporter assay, Western blot 18834857
MIRT000731 hsa-miR-145-5p Review 19574400
MIRT000731 hsa-miR-145-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 17827156
MIRT000731 hsa-miR-145-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 17827156
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity ISS
GO:0005080 Function Protein kinase C binding ISS
GO:0005158 Function Insulin receptor binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147545 6125 ENSG00000169047
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
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