Aliases for IRS1 Gene
External Ids for IRS1 Gene
- HGNC: 6125
- Entrez Gene: 3667
- Ensembl: ENSG00000169047
- OMIM: 147545
- UniProtKB: P35568
Previous GeneCards Identifiers for IRS1 Gene
- GC02M225622
- GC02M226321
- GC02M227563
- GC02M227802
- GC02M227425
- GC02M227308
- GC02M219439
Summaries for IRS1 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]
GeneCards Summary for IRS1 Gene
IRS1 (Insulin Receptor Substrate 1) is a Protein Coding gene. Diseases associated with IRS1 include Diabetes Mellitus, Noninsulin-Dependent and Mixed Cell Adenoma. Among its related pathways are RET signaling and IL-2 Pathway. GO annotations related to this gene include protein kinase binding and protein kinase C binding. An important paralog of this gene is IRS2.
UniProtKB/Swiss-Prot for IRS1 Gene
-
May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit (By similarity).
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRS1 Gene
Genomics for IRS1 Gene
Regulatory Elements for IRS1 Gene
Enhancers for IRS1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH02F226423 | 1.5 | FANTOM5 Ensembl ENCODE | 15.7 | +373.0 | 372999 | 7.3 | RAD21 RARA YY1 ETV6 FOS CREM MIXL1 CEBPB MAFF SMARCA4 | IRS1 LOC105373915 GC02M226320 |
| GH02F226984 | 1.4 | FANTOM5 Ensembl ENCODE | 11.1 | -185.2 | -185170 | 1.9 | RAD21 GATA2 CBX5 ZNF143 ETV6 CREM ZNF654 CBFB JUNB REST | IRS1 RHBDD1 COL4A3 GC02M226993 GC02M226970 ENSG00000212391 |
| GH02F226771 | 1.3 | Ensembl ENCODE | 11.8 | +27.0 | 27018 | 3.4 | PKNOX1 ARNT FEZF1 ELK1 GATA2 CBX5 JUNB NCOA1 TBX21 MBD2 | IRS1 GC02P226775 MIR5702 |
| GH02F226753 | 1.3 | Ensembl ENCODE | 11.4 | +40.7 | 40667 | 10.5 | MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 FOS JUNB MIER2 | IRS1 GC02P226775 MIR5702 |
| GH02F227324 | 1.2 | ENCODE | 11.8 | -526.2 | -526183 | 3.1 | CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 | LOC654841 MFF IRS1 STIP1P2 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around IRS1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the IRS1 gene promoter:
Regulatory Element Products
Genomic Location for IRS1 Gene
- Chromosome:
- 2
- Start:
- 226,731,317 bp from pter
- End:
- 226,799,759 bp from pter
- Size:
- 68,443 bases
- Orientation:
- Minus strand
Genomic View for IRS1 Gene
Genes around IRS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q36.3 by Ensembl
- 2q36.3 by Entrez Gene
- 2q36.3 by HGNC
IRS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for IRS1 Gene
Proteins for IRS1 Gene
-
Protein details for IRS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35568-IRS1_HUMAN
- Recommended name:
- Insulin receptor substrate 1
- Protein Accession:
- P35568
Protein attributes for IRS1 Gene
- Size:
- 1242 amino acids
- Molecular mass:
- 131591 Da
- Quaternary structure:
-
- Interacts with UBTF and PIK3CA (By similarity). Interacts (via phosphorylated YXXM motifs) with PIK3R1 (By similarity). Interacts with ROCK1 and FER (By similarity). Interacts (via PH domain) with PHIP (By similarity). Interacts with GRB2 (By similarity). Interacts with SOCS7. Interacts (via IRS-type PTB domain) with IGF1R and INSR (via the tyrosine-phosphorylated NPXY motif). Interacts with ALK. Interacts with EIF2AK2/PKR (By similarity).
Protein Expression for IRS1 Gene
Post-translational modifications for IRS1 Gene
- Serine phosphorylation of IRS1 is a mechanism for insulin resistance. Ser-312 phosphorylation inhibits insulin action through disruption of IRS1 interaction with the insulin receptor (By similarity). Phosphorylation of Tyr-896 is required for GRB2-binding (By similarity). Phosphorylated by ALK. Phosphorylated at Ser-270, Ser-307, Ser-636 and Ser-1101 by RPS6KB1; phosphorylation induces accelerated degradation of IRS1.
- Ubiquitinated by the Cul7-RING(FBXW8) complex in a mTOR-dependent manner, leading to its degradation: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for IRS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore top IRS1 Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for IRS1
- R&D Systems Antibodies for IRS1 (IRS1)
- Cell Signaling Technology (CST) Antibodies for IRS1 (IRS1)
-
Custom Antibody ServicesOriGene Antibodies for IRS1
- AM12122PU-N
- AP00164PU-N
- AP01831PU-N
- CF808553
- TA808553
- CF808552
- TA808552
- CF808551
- TA808551
- CF808550
- TA808550
- TA353883
- TA349369
- TA327864
- TA327805
- TA325575
- TA325574
- TA325573
- TA325572
- TA322594
- TA322593
- TA322592
- TA319246
- TA312871
- TA312870
- TA312869
- TA312868
- TA312867
- TA312866
- TA312865
- TA312864
- TA312863
- TA312862
- TA312861
- TA312860
- TA312859
- TA312858
- TA309986
- TA306226
- TA303552
- AP31339PU-N
- AP22717PU-N
- AP21042PU-N
- AP20954PU-N
- AP20832PU-N
- AP20831PU-N
- AP20817PU-N
- AP20710PU-N
- AP20709PU-N
- AP20695PU-N
- AP20694PU-N
- AP15610PU-S
- AP15610PU-N
- AP15610PU-M
- AP07321PU-N
- AP06529PU-N
- AP06432PU-N
- AP06397PU-N
- AP02733PU-S
- AP02733PU-N
- AP02732PU-S
- AP02732PU-N
- AP02489PU-S
- AP02489PU-N
- AP02488PU-S
- AP02488PU-N
- AP02428PU-S
- AP02428PU-N
- Novus Biologicals Antibodies for IRS1
- Invitrogen Antibodies for IRS1
- antibodies-online Antibodies for IRS1: See all 620
- GeneTex IRS1 antibody for IRS1
-
St John's Laboratory Antibodies for IRS1
- irs-1-antibody-p-92846
- irs-1-antibody-p-92847
- irs-1-antibody-p-92848
- irs-1-antibody-p-92849
- irs-1-antibody-p-92850
- irs-1-antibody-p-92851
- irs-1-antibody-p-92852
- irs-1-antibody-p-92845
- irs-1-antibody-p-92844
- phospho-irs-1-s323-antibody
- phospho-irs-1-s616-antibody
- phospho-irs-1-s312-antibody
- phospho-irs-1-y896-antibody
- phospho-irs-1-s794-antibody
- phospho-irs-1-s639-antibody
- phospho-irs-1-s636-antibody
- phospho-irs-1-s307-antibody-p-89921
- phospho-irs-1-s307-antibody
- phospho-irs-1-s1101-antibody
- irs1-antibody-p-65927
- irs1-antibody-phospho-ser307-p-63927
- irs1-antibody-phospho-ser639-p-63926
- irs1-antibody-phospho-ser636-p-63925
- irs1-antibody-phospho-ser312-p-63924
- anti-irs-1-antibody
- phospho-irs1-s307-antibody
-
Custom Antibody ServicesProSci Antibodies for IRS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for IRS1
Protein Products
- EMD Millipore Purified and/or Recombinant IRS1 Protein
-
OriGene Purified Proteins for IRS1
- Search Origene for MassSpec and Protein Over-expression Lysates for IRS1
- Origene Custom Protein Services for IRS1
- Search GeneTex for Proteins for IRS1
Assay Products
- EMD Millipore Kits and Assays for IRS1
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for IRS1 (IRS1)
- Cell Signaling Technology (CST) Sandwich ELISA Kits for IRS1 (IRS1)
- antibodies-online Kits for IRS1: See all 38
No data available for DME Specific Peptides for IRS1 Gene
Domains & Families for IRS1 Gene
Gene Families for IRS1 Gene
Protein Domains for IRS1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for IRS1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P35568- Domain:
-
- Contains 1 IRS-type PTB domain.
- Contains 1 PH domain.
Function for IRS1 Gene
Molecular function for IRS1 Gene
- GENATLAS Biochemistry:
- insulin receptor,substrate 1,overexpressed in skeletal muscle,and adipocytes (polymorphism associated to susceptibility to NIDDM),located in the low density microsome fraction,tyrosine phosphorylated in response to insulin stimulation,interacting with several proteins containing SH2 domains,such as PIKRs,GRB2
- UniProtKB/Swiss-Prot Function:
- May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit (By similarity).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004871 | signal transducer activity | TAS | 1311924 |
| GO:0005068 | transmembrane receptor protein tyrosine kinase adaptor activity | ISS,TAS | -- |
| GO:0005080 | protein kinase C binding | ISS | -- |
| GO:0005088 | Ras guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005158 | insulin receptor binding | IPI | 7493946 |
Phenotypes for IRS1 Gene
- MGI mutant phenotypes for IRS1:
-
inferred from 9 alleles
- cellular phenotype
- mortality/aging
- growth/size/body region phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- immune system phenotype
- cardiovascular system phenotype
- endocrine/exocrine gland phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- hearing/vestibular/ear phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for IRS1:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased ionizing radiation sensitivity
- Decreased viability ratio
- Decreased NF-kappaB reporter expression
- Decreased viability
- Decreased Salmonella enterica Typhimurium invasion
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Increased HPV16-GFP infection
- Increased cell number in S
- Increased cell death HMECs cells
- Increased Sindbis virus (SINV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for IRS1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for IRS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for IRS1 gene
- Search ViGene Biosciences for IRS1
CRISPR Products
-
OriGene CRISPR knockouts for IRS1
- GenScript: Design CRISPR guide RNA sequences for IRS1
miRNA for IRS1 Gene
- miRTarBase miRNAs that target IRS1
-
- hsa-mir-145-5p (MIRT000731)
- hsa-mir-7-5p (MIRT003807)
- hsa-mir-126-3p (MIRT004355)
- hsa-mir-148a-3p (MIRT006859)
- hsa-mir-152-3p (MIRT006860)
- ssc-mir-145-5p (MIRT054038)
- hsa-mir-105-5p (MIRT437910)
- hsa-mir-4480 (MIRT442208)
- hsa-mir-4311 (MIRT442210)
- hsa-mir-1277-5p (MIRT542213)
- hsa-mir-4789-5p (MIRT542214)
- hsa-mir-3941 (MIRT542215)
- hsa-mir-223-5p (MIRT542216)
- hsa-mir-511-3p (MIRT542217)
- hsa-mir-5011-5p (MIRT542218)
- hsa-mir-4789-3p (MIRT542219)
- hsa-mir-5580-3p (MIRT542220)
- hsa-mir-603 (MIRT542221)
- hsa-mir-362-3p (MIRT542222)
- hsa-mir-8485 (MIRT542223)
- hsa-mir-329-3p (MIRT542224)
- hsa-mir-190a-3p (MIRT544956)
- hsa-mir-6867-5p (MIRT556913)
- hsa-mir-1185-2-3p (MIRT623572)
- hsa-mir-1185-1-3p (MIRT623573)
- hsa-let-7f-2-3p (MIRT623574)
- hsa-mir-7157-5p (MIRT623575)
- hsa-mir-4310 (MIRT623576)
- hsa-mir-3120-3p (MIRT623577)
- hsa-mir-4777-3p (MIRT667814)
- hsa-mir-892c-3p (MIRT711049)
- hsa-mir-4676-3p (MIRT711050)
- hsa-mir-452-5p (MIRT711051)
- hsa-mir-429 (MIRT711052)
- hsa-mir-200c-3p (MIRT711053)
- hsa-mir-200b-3p (MIRT711054)
miRNA Products
- Search ViGene Biosciences for IRS1
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for IRS1
- VectorBuilder custom plasmid, inducible vectors for IRS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for IRS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for IRS1
-
ViGene Biosciences adenoviral particle packaged cDNA for IRS1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for IRS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for IRS1 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IRS1 Gene
Localization for IRS1 Gene
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS | -- |
| GO:0005737 | cytoplasm | ISS,TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005899 | insulin receptor complex | ISS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for IRS1 Gene
Pathways & Interactions for IRS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Translation Insulin regulation of translation |
.01
|
|
| 3 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways | ||
| 4 | GAB1 signalosome |
.87
|
|
| 5 | IL-2 Pathway |
.34
|
|
Pathways by source for IRS1 Gene
1 GeneTex pathway for IRS1 Gene
2 Cell Signaling Technology pathways for IRS1 Gene
24 BioSystems pathways for IRS1 Gene
63 Reactome pathways for IRS1 Gene
2 PharmGKB pathways for IRS1 Gene
16 KEGG pathways for IRS1 Gene
22 GeneGo (Thomson Reuters) pathways for IRS1 Gene
9 R&D Systems pathways for IRS1 Gene
19 Qiagen pathways for IRS1 Gene
Interacting Proteins for IRS1 Gene
Selected Interacting proteins:
P35568-IRS1_HUMAN
ENSP00000304895
for IRS1 Gene via
MINT
STRING
IID
UniProtKB
SIGNOR curated interactions for IRS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000165 | MAPK cascade | TAS | -- |
| GO:0007165 | signal transduction | TAS | 1311924 |
| GO:0008284 | positive regulation of cell proliferation | NAS | 17925406 |
| GO:0008286 | insulin receptor signaling pathway | IPI | 7537849 |
| GO:0010907 | positive regulation of glucose metabolic process | IMP | 16814735 |
Drugs & Compounds for IRS1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for IRS1 Gene
mRNA/cDNA for IRS1 Gene
- (1) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (115) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for IRS1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for IRS1
- GenScript: Design CRISPR guide RNA sequences for IRS1
miRNA Products
- Search ViGene Biosciences for IRS1
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for IRS1
- VectorBuilder custom plasmid, inducible vectors for IRS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for IRS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for IRS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- T-Cytotoxic Cells Peripheral Blood
- Double Positive Thymocytes Thymus
- Mature B-Cells Peripheral Blood
-
Thymus (Hematopoietic System)
- Double Positive Thymocytes Thymus
-
Thyroid (Endocrine System)
This gene is overexpressed in Brain (66.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IRS1 Gene
NURSA nuclear receptor signaling pathways regulating expression of IRS1 Gene:
IRS1SOURCE GeneReport for Unigene cluster for IRS1 Gene:
Hs.471508Primer Products
-
OriGene qPCR primer pairs for IRS1
-
OriGene qPCR primer pairs and template standards for IRS1
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for IRS1 Gene
Orthologs for IRS1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | IRS1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | IRS1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | IRS1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Irs1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Irs1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | IRS1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | IRS1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | IRS1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100495320 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.957 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | irs1 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | chico 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for IRS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for IRS1 Gene
(1) SIMAP similar genes for IRS1 Gene using alignment to 4 proteins:
Variants for IRS1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for IRS1 Gene
- IRS1_HUMAN-P35568
- The Arg-971 polymorphism impairs the ability of insulin to stimulate glucose transport, glucose transporter translocation, and glycogen synthesis by affecting the PI3K/AKT1/GSK3 signaling pathway. The polymorphism at Arg-971 may contribute to the in vivo insulin resistance observed in carriers of this variant. Arg-971 could contribute to the risk for atherosclerotic cardiovascular diseases associated with non-insulin-dependent diabetes mellitus (NIDDM) by producing a cluster of insulin resistance-related metabolic abnormalities. In insulin-stimulated human endothelial cells from carriers of the Arg-971 polymorphism, genetic impairment of the IRS1/PI3K/PDPK1/AKT1 insulin signaling cascade results in impaired insulin-stimulated nitric oxide (NO) release and suggested that this may be a mechanism through which the Arg-971 polymorphism contributes to the genetic predisposition to develop endothelial dysfunction and cardiovascular disease. The Arg-971 polymorphism not only reduces phosphorylation of the substrate but allows IRS1 to act as an inhibitor of PI3K, producing global insulin resistance.
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_005302 | Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] | ||||
| VAR_005303 | Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] | ||||
| rs104893642 | Pathogenic | 226,796,916(-) | CCACA(C/G/T)GGATG | reference, missense | |
| rs1801278 | other | 226,795,828(-) | CTCCC(A/G)GGGCT | reference, missense | |
| rs10168135 | -- | 226,743,242(+) | ttttt(C/T)ttttg | intron-variant |
Residual Variation Intolerance Score:
61.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.46;
71.54% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for IRS1 Gene
Disorders for IRS1 Gene
(21) MalaCards diseases for IRS1 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diabetes mellitus, noninsulin-dependent |
|
|
| mixed cell adenoma |
|
|
| gestational diabetes |
|
|
| leprechaunism |
|
|
| polycystic ovary syndrome |
|
Search IRS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
IRS1_HUMAN- Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:10206679, ECO:0000269 PubMed:12843189, ECO:0000269 PubMed:8723689}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Relevant External Links for IRS1
No data available for Genatlas for IRS1 Gene
Publications for IRS1 Gene
- A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling. (PMID: 12679424) Esposito D.L. … Cama A. (J. Clin. Endocrinol. Metab. 2003) 3 4 22 46 64
- Aminoacid polymorphisms of insulin receptor substrate-1 in non- insulin-dependent diabetes mellitus. (PMID: 8104271) Almind K. … Pedersen O. (Lancet 1993) 3 4 22 46 64
- [Effect of the Gly972Arg, SNP43 and Prol2Ala polymorphisms of the genes IRS1, CAPN10 and PPARG2 on secondary failure to sulphonylurea and metformin in patients with type 2 diabetes in YucatA!n, MAcxico]. (PMID: 19418728) GarcA-a-Escalante M.G. … Laviada-Molina H. (Invest Clin 2009) 3 22 46 64
- S6K directly phosphorylates IRS-1 on Ser-270 to promote insulin resistance in response to TNF-(alpha) signaling through IKK2. (PMID: 18952604) Zhang J. … Ye J. (J. Biol. Chem. 2008) 3 4 22 64
- Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions. (PMID: 18059035) Slattery M.L. … Potter J.D. (Int. J. Cancer 2008) 3 22 46 64
Products for IRS1 Gene
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Sources for IRS1 Gene
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