• Gene id: 3667

Gene Summary

• Gene Symbol: IRS1   Gene   UCSC   Ensembl
• Aliases: HIRS-1
• Gene name: insulin receptor substrate 1
• Alternate names: insulin receptor substrate 1, IRS-1,
• Gene location: 2q36.3 (226798789: 226731316)     Exons: 2     NC_000002.12
• Gene summary(Entrez): 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]
• OMIM: 147545

Protein Summary

• Protein general information: P35568  
  • Name: Insulin receptor substrate 1 (IRS 1)
  • Length: 1242  
  • Mass: 131591
• Sequence:

  MASPPESDGFSDVRKVGYLRKPKSMHKRFFVLRAASEAGGPARLEYYENEKKWRHKSSAPKRSIPLESCFNINKR
  ADSKNKHLVALYTRDEHFAIAADSEAEQDSWYQALLQLHNRAKGHHDGAAALGAGGGGGSCSGSSGLGEAGEDLS
  YGDVPPGPAFKEVWQVILKPKGLGQTKNLIGIYRLCLTSKTISFVKLNSEAAAVVLQLMNIRRCGHSENFFFIEV
  GRSAVTGPGEFWMQVDDSVVAQNMHETILEAMRAMSDEFRPRSKSQSSSNCSNPISVPLRRHHLNNPPPSQVGLT
  RRSRTESITATSPASMVGGKPGSFRVRASSDGEGTMSRPASVDGSPVSPSTNRTHAHRHRGSARLHPPLNHSRSI
  PMPASRCSPSATSPVSLSSSSTSGHGSTSDCLFPRRSSASVSGSPSDGGFISSDEYGSSPCDFRSSFRSVTPDSL
  GHTPPARGEEELSNYICMGGKGPSTLTAPNGHYILSRGGNGHRCTPGTGLGTSPALAGDEAASAADLDNRFRKRT
  HSAGTSPTITHQKTPSQSSVASIEEYTEMMPAYPPGGGSGGRLPGHRHSAFVPTRSYPEEGLEMHPLERRGGHHR
  PDSSTLHTDDGYMPMSPGVAPVPSGRKGSGDYMPMSPKSVSAPQQIINPIRRHPQRVDPNGYMMMSPSGGCSPDI
  GGGPSSSSSSSNAVPSGTSYGKLWTNGVGGHHSHVLPHPKPPVESSGGKLLPCTGDYMNMSPVGDSNTSSPSDCY
  YGPEDPQHKPVLSYYSLPRSFKHTQRPGEPEEGARHQHLRLSTSSGRLLYAATADDSSSSTSSDSLGGGYCGARL
  EPSLPHPHHQVLQPHLPRKVDTAAQTNSRLARPTRLSLGDPKASTLPRAREQQQQQQPLLHPPEPKSPGEYVNIE
  FGSDQSGYLSGPVAFHSSPSVRCPSQLQPAPREEETGTEEYMKMDLGPGRRAAWQESTGVEMGRLGPAPPGAASI
  CRPTRAVPSSRGDYMTMQMSCPRQSYVDTSPAAPVSYADMRTGIAAEEVSLPRATMAAASSSSAASASPTGPQGA
  AELAAHSSLLGGPQGPGGMSAFTRVNLSPNRNQSAKVIRADPQGCRRRHSSETFSSTPSATRVGNTVPFGAGAAV
  GGGGGSSSSSEDVKRHSSASFENVWLRPGELGGAPKEPAKLCGAAGGLENGLNYIDLDLVKDFKQCPQECTPEPQ
  PPPPPPPHQPLGSGESSSTRRSSEDLSAYASISFQKQPEDRQ

• Structural information:
  • Protein Domains: (12..11-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (160..26-)
    (/note="IRS-type-PTB)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00389"-)
  • Interpro: IPR039011  IPR002404  IPR011993  IPR001849  
  • Prosite: PS51064 PS50003
  • CDD: cd01204
  • PDB: 1IRS 1K3A 1QQG 2Z8C 5U1M 6BNT
  • PDBsum: 1IRS 1K3A 1QQG 2Z8C 5U1M 6BNT
  • DIP: 523
  • STRING: ENSP00000304895
• Other Databases: GeneCards:  IRS1  Malacards:  IRS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071398	cellular response to fatty acid	ISS	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0008286	insulin receptor signaling pathway	IBA	biological process
GO:0043548	phosphatidylinositol 3-kinase binding	IBA	molecular function
GO:0005158	insulin receptor binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0005158	insulin receptor binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005068	transmembrane receptor protein tyrosine kinase adaptor activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038111	interleukin-7-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030159	signaling receptor complex adaptor activity	IDA	molecular function
GO:0005068	transmembrane receptor protein tyrosine kinase adaptor activity	ISS	molecular function
GO:0005080	protein kinase C binding	ISS	molecular function
GO:0043548	phosphatidylinositol 3-kinase binding	IPI	molecular function
GO:0005158	insulin receptor binding	IPI	molecular function
GO:0005901	caveola	IDA	cellular component
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0032868	response to insulin	IDA	biological process
GO:0046676	negative regulation of insulin secretion	IDA	biological process
GO:0005899	insulin receptor complex	ISS	cellular component
GO:0008284	positive regulation of cell population proliferation	NAS	biological process
GO:0008286	insulin receptor signaling pathway	IMP	biological process
GO:0010907	positive regulation of glucose metabolic process	IMP	biological process
GO:0032869	cellular response to insulin stimulus	IMP	biological process
GO:0042593	glucose homeostasis	TAS	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	ISS	biological process
GO:0046628	positive regulation of insulin receptor signaling pathway	IDA	biological process
GO:0046326	positive regulation of glucose import	IDA	biological process
GO:0032000	positive regulation of fatty acid beta-oxidation	IMP	biological process
GO:0043434	response to peptide hormone	ISS	biological process
GO:0045725	positive regulation of glycogen biosynthetic process	NAS	biological process
GO:0045725	positive regulation of glycogen biosynthetic process	IMP	biological process
GO:0046326	positive regulation of glucose import	IMP	biological process
GO:0046627	negative regulation of insulin receptor signaling pathway	ISS	biological process
GO:0046628	positive regulation of insulin receptor signaling pathway	ISS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IPI	biological process
GO:0043231	intracellular membrane-bounded organelle	ISS	cellular component
GO:0042169	SH2 domain binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005159	insulin-like growth factor receptor binding	IPI	molecular function
GO:0048009	insulin-like growth factor receptor signaling pathway	IPI	biological process
GO:0043548	phosphatidylinositol 3-kinase binding	IPI	molecular function
GO:0043548	phosphatidylinositol 3-kinase binding	ISS	molecular function
GO:0008286	insulin receptor signaling pathway	IPI	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005158	insulin receptor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04151	PI3K-Akt signaling pathway
hsa05206	MicroRNAs in cancer
hsa04022	cGMP-PKG signaling pathway
hsa04150	mTOR signaling pathway
hsa04140	Autophagy - animal
hsa04932	Non-alcoholic fatty liver disease
hsa04910	Insulin signaling pathway
hsa04722	Neurotrophin signaling pathway
hsa04152	AMPK signaling pathway
hsa04068	FoxO signaling pathway
hsa04935	Growth hormone synthesis, secretion and action
hsa04931	Insulin resistance
hsa04211	Longevity regulating pathway
hsa04920	Adipocytokine signaling pathway
hsa04213	Longevity regulating pathway - multiple species
hsa04930	Type II diabetes mellitus
hsa04923	Regulation of lipolysis in adipocytes
hsa04960	Aldosterone-regulated sodium reabsorption
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Alzheimer's disease	PMID:18479783
Alzheimer's disease	PMID:22476197
Alzheimer's disease	PMID:24589556
Coronary artery disease	PMID:10591678
type 2 diabetes mellitus	PMID:14633864
type 2 diabetes mellitus	PMID:12679424
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq