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Aliases for IGF1R Gene

Aliases for IGF1R Gene

  • Insulin Like Growth Factor 1 Receptor 2 3 5
  • Insulin-Like Growth Factor 1 Receptor 2 3
  • IGF-I Receptor 3 4
  • EC 2.7.10.1 4 61
  • Insulin-Like Growth Factor I Receptor 4
  • Soluble IGF1R Variant 1 3
  • Soluble IGF1R Variant 2 3
  • CD221 Antigen 4
  • EC 2.7.10 61
  • CD221 3
  • IGFIR 3
  • JTK13 3
  • IGFR 3

External Ids for IGF1R Gene

Previous GeneCards Identifiers for IGF1R Gene

  • GC15P095878
  • GC15P093033
  • GC15P096785
  • GC15P096928
  • GC15P097010
  • GC15P099192
  • GC15P075320

Summaries for IGF1R Gene

Entrez Gene Summary for IGF1R Gene

  • This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

CIViC summary for IGF1R Gene

GeneCards Summary for IGF1R Gene

IGF1R (Insulin Like Growth Factor 1 Receptor) is a Protein Coding gene. Diseases associated with IGF1R include Insulin-Like Growth Factor I and Ring Chromosome 15. Among its related pathways are Development IGF-1 receptor signaling and mTOR Pathway. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is INSR.

UniProtKB/Swiss-Prot for IGF1R Gene

  • Receptor tyrosine kinase which mediates actions of insulin-like growth factor 1 (IGF1). Binds IGF1 with high affinity and IGF2 and insulin (INS) with a lower affinity. The activated IGF1R is involved in cell growth and survival control. IGF1R is crucial for tumor transformation and survival of malignant cell. Ligand binding activates the receptor kinase, leading to receptor autophosphorylation, and tyrosines phosphorylation of multiple substrates, that function as signaling adapter proteins including, the insulin-receptor substrates (IRS1/2), Shc and 14-3-3 proteins. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPK pathway. The result of activating the MAPK pathway is increased cellular proliferation, whereas activating the PI3K pathway inhibits apoptosis and stimulates protein synthesis. Phosphorylated IRS1 can activate the 85 kDa regulatory subunit of PI3K (PIK3R1), leading to activation of several downstream substrates, including protein AKT/PKB. AKT phosphorylation, in turn, enhances protein synthesis through mTOR activation and triggers the antiapoptotic effects of IGFIR through phosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1 or Shc leads to recruitment of Ras and activation of the ras-MAPK pathway. In addition to these two main signaling pathways IGF1R signals also through the Janus kinase/signal transducer and activator of transcription pathway (JAK/STAT). Phosphorylation of JAK proteins can lead to phosphorylation/activation of signal transducers and activators of transcription (STAT) proteins. In particular activation of STAT3, may be essential for the transforming activity of IGF1R. The JAK/STAT pathway activates gene transcription and may be responsible for the transforming activity. JNK kinases can also be activated by the IGF1R. IGF1 exerts inhibiting activities on JNK activation via phosphorylation and inhibition of MAP3K5/ASK1, which is able to directly associate with the IGF1R.

  • When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin.

Tocris Summary for IGF1R Gene

  • Insulin receptors (IRs) and insulin-like growth factor receptors (IGFRs) are formed from two subunits, each of which is comprised of an extracellular alpha-subunit and a transmembrane beta-subunit with intracellular tyrosine kinase activity. IR homodimers are activated by insulin.

Gene Wiki entry for IGF1R Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGF1R Gene

Genomics for IGF1R Gene

Regulatory Elements for IGF1R Gene

Enhancers for IGF1R 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
GH15G098850 2 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +206.1 206075 9.1 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 FOS DEK ZNF263 IGF1R ENSG00000259621 MIR4714
GH15G098742 1.3 Ensembl ENCODE dbSUPER 18.5 +96.7 96736 5.0 CTCF PKNOX1 TAL1 PAX8 RAD21 E2F1 CTBP1 GATA3 POLR2A ZBTB48 IGF1R MIR4714 GC15M098697
GH15G098864 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +218.6 218575 4.4 PKNOX1 SIN3A ARID4B DMAP1 ZNF48 YY1 FOS KLF13 SP3 SP5 IGF1R ENSG00000259621 MIR4714
GH15G098776 1.6 Ensembl ENCODE dbSUPER 11.5 +130.2 130174 5.0 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B CBX5 ZNF143 FOS DEK IGF1R MIR4714 GC15M098697
GH15G098722 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 7.3 +79.5 79549 10.9 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 FOS REST IGF1R PGPEP1L GC15M098697 MIR4714
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IGF1R on UCSC Golden Path with GeneCards custom track

Promoters for IGF1R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000081696 861 5201 FOXA2 MLX ARNT CREB3L1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ZNF766

Genomic Location for IGF1R Gene

Chromosome:
15
Start:
98,648,539 bp from pter
End:
98,964,530 bp from pter
Size:
315,992 bases
Orientation:
Plus strand

Genomic View for IGF1R Gene

Genes around IGF1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGF1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGF1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGF1R Gene

Proteins for IGF1R Gene

  • Protein details for IGF1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08069-IGF1R_HUMAN
    Recommended name:
    Insulin-like growth factor 1 receptor
    Protein Accession:
    P08069
    Secondary Accessions:
    • B1B5Y2
    • Q14CV2
    • Q9UCC0

    Protein attributes for IGF1R Gene

    Size:
    1367 amino acids
    Molecular mass:
    154793 Da
    Quaternary structure:
    • Tetramer of 2 alpha and 2 beta chains linked by disulfide bonds. The alpha chains contribute to the formation of the ligand-binding domain, while the beta chain carries the kinase domain. Interacts with PIK3R1 and with the PTB/PID domains of IRS1 and SHC1 in vitro when autophosphorylated on tyrosine residues. Forms a hybrid receptor with INSR, the hybrid is a tetramer consisting of 1 alpha chain and 1 beta chain of INSR and 1 alpha chain and 1 beta chain of IGF1R. Interacts with ARRB1 and ARRB2. Interacts with GRB10. Interacts with RACK1. Interacts with SOCS1, SOCS2 and SOCS3. Interacts with 14-3-3 proteins. Interacts with NMD2. Interacts with MAP3K5. Interacts with STAT3. Found in a ternary complex with IGF1 and ITGAV:ITGB3 or ITGA6:ITGB4 (PubMed:19578119, PubMed:22351760).
    SequenceCaution:
    • Sequence=BAG11657.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IGF1R Gene

neXtProt entry for IGF1R Gene

Selected DME Specific Peptides for IGF1R Gene

P08069:
  • DGQDACG
  • LMRMCWQ
  • IGLYNLRNITRGA
  • LENCTVIEG
  • PESLKDG
  • RDLAARN
  • YALVIFEM
  • YVPDEWEV
  • AIKTVNE
  • FPNLTVI
  • GVVSQGQPT
  • GLLPVRWM
  • MCWQYNPKMRP
  • SASNSSSQL
  • GVVLWEI
  • GPGVLVLRASFDERQPYAHMNGGR
  • RERIEFLNEASVMK
  • RYRPPDYRDLISFTVYYKEAPF
  • FGMVYEG
  • FNCHHVV
  • AKGVVKDE
  • RLGNGVLYASVNPEYFSAA
  • MEEVTGTKGRQ
  • KTIDSVTSAQ
  • KFVHRDLAARNCMV
  • HVVRLLGV
  • ERTVISNL
  • SNEQVLRFVMEGGLL
  • PVRWMSPE
  • VTGYVKIRHSHALVSLSFLK
  • CCHPECLGSC
  • PNGLILMYEI
  • EAEYRKVFENFLHNSIFVPRP
  • NNYIVGNKPPKEC
  • LKPWTQYA
  • PFTLYRIDIHSCNHEAEKLGCSASNFVFARTMPA
  • PCEGPCPK
  • DGMAYLNA
  • CACPKTEAE
  • EIADGMAYL
  • FVHRDLA
  • QPYQGLSNE
  • GPCPKVC

Post-translational modifications for IGF1R Gene

  • Autophosphorylated on tyrosine residues in response to ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Autophosphorylation occurs in a sequential manner; Tyr-1165 is predominantly phosphorylated first, followed by phosphorylation of Tyr-1161 and Tyr-1166. While every single phosphorylation increases kinase activity, all three tyrosine residues in the kinase activation loop (Tyr-1165, Tyr-1161 and Tyr-1166) have to be phosphorylated for optimal activity. Can be autophosphorylated at additional tyrosine residues (in vitro). Autophosphorylated is followed by phosphorylation of juxtamembrane tyrosines and C-terminal serines. Phosphorylation of Tyr-980 is required for IRS1- and SHC1-binding. Phosphorylation of Ser-1278 by GSK-3beta restrains kinase activity and promotes cell surface expression, it requires a priming phosphorylation at Ser-1282. Dephosphorylated by PTPN1 (By similarity).
  • Controlled by regulated intramembrane proteolysis (RIP). Undergoes metalloprotease-dependent constitutive ectodomain shedding to produce a membrane-anchored 52 kDa C-Terminal fragment which is further processed by presenilin gamma-secretase to yield an intracellular 50 kDa fragment.
  • Polyubiquitinated at Lys-1168 and Lys-1171 through both Lys-48 and Lys-29 linkages, promoting receptor endocytosis and subsequent degradation by the proteasome. Ubiquitination is facilitated by pre-existing phosphorylation.
  • Sumoylated with SUMO1.
  • Ubiquitination at posLast=10331033, posLast=11681168, and isoforms=1171
  • Glycosylation at posLast=5151, isoforms=102, posLast=135135, isoforms=244, posLast=314314, isoforms=417, posLast=438438, posLast=534534, isoforms=607, isoforms=622, isoforms=640, posLast=747747, isoforms=756, isoforms=764, posLast=900900, and posLast=913913
  • Modification sites at PhosphoSitePlus

Protein Products

Assay Products

  • Cloud-Clone Corp. Assay Kits for IGF1R

Domains & Families for IGF1R Gene

Suggested Antigen Peptide Sequences for IGF1R Gene

Graphical View of Domain Structure for InterPro Entry

P08069

UniProtKB/Swiss-Prot:

IGF1R_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
genes like me logo Genes that share domains with IGF1R: view

Function for IGF1R Gene

Molecular function for IGF1R Gene

GENATLAS Biochemistry:
insulin-like growth factor 1,receptor
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by autophosphorylation at Tyr-1165, Tyr-1161 and Tyr-1166 on the kinase activation loop; phosphorylation at all three tyrosine residues is required for optimal kinase activity. Inhibited by MSC1609119A-1, BMS-754807, PQIP, benzimidazole pyridinone, isoquinolinedione, bis-azaindole, 3-cyanoquinoline, 2,4-bis-arylamino-1,3-pyrimidine, pyrrolopyrimidine, pyrrole-5-carboxaldehyde, picropodophyllin (PPP), tyrphostin derivatives. While most inhibitors bind to the ATP binding pocket, MSC1609119A-1 functions as allosteric inhibitor and binds close to the DFG motif and the activation loop.
UniProtKB/Swiss-Prot Function:
Receptor tyrosine kinase which mediates actions of insulin-like growth factor 1 (IGF1). Binds IGF1 with high affinity and IGF2 and insulin (INS) with a lower affinity. The activated IGF1R is involved in cell growth and survival control. IGF1R is crucial for tumor transformation and survival of malignant cell. Ligand binding activates the receptor kinase, leading to receptor autophosphorylation, and tyrosines phosphorylation of multiple substrates, that function as signaling adapter proteins including, the insulin-receptor substrates (IRS1/2), Shc and 14-3-3 proteins. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPK pathway. The result of activating the MAPK pathway is increased cellular proliferation, whereas activating the PI3K pathway inhibits apoptosis and stimulates protein synthesis. Phosphorylated IRS1 can activate the 85 kDa regulatory subunit of PI3K (PIK3R1), leading to activation of several downstream substrates, including protein AKT/PKB. AKT phosphorylation, in turn, enhances protein synthesis through mTOR activation and triggers the antiapoptotic effects of IGFIR through phosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1 or Shc leads to recruitment of Ras and activation of the ras-MAPK pathway. In addition to these two main signaling pathways IGF1R signals also through the Janus kinase/signal transducer and activator of transcription pathway (JAK/STAT). Phosphorylation of JAK proteins can lead to phosphorylation/activation of signal transducers and activators of transcription (STAT) proteins. In particular activation of STAT3, may be essential for the transforming activity of IGF1R. The JAK/STAT pathway activates gene transcription and may be responsible for the transforming activity. JNK kinases can also be activated by the IGF1R. IGF1 exerts inhibiting activities on JNK activation via phosphorylation and inhibition of MAP3K5/ASK1, which is able to directly associate with the IGF1R.
UniProtKB/Swiss-Prot Function:
When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin.

Enzyme Numbers (IUBMB) for IGF1R Gene

Gene Ontology (GO) - Molecular Function for IGF1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity TAS,IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0005010 insulin-like growth factor-activated receptor activity IDA 7679099
GO:0005158 insulin receptor binding IDA 8452530
genes like me logo Genes that share ontologies with IGF1R: view

Phenotypes for IGF1R Gene

MGI mutant phenotypes for IGF1R:
inferred from 8 alleles
GenomeRNAi human phenotypes for IGF1R:
genes like me logo Genes that share phenotypes with IGF1R: view

Human Phenotype Ontology for IGF1R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IGF1R Gene

MGI Knock Outs for IGF1R:

Animal Model Products

  • Taconic Biosciences Mouse Models for IGF1R

CRISPR Products

miRNA for IGF1R Gene

miRTarBase miRNAs that target IGF1R

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for IGF1R

No data available for Transcription Factor Targets and HOMER Transcription for IGF1R Gene

Localization for IGF1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGF1R Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGF1R gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for IGF1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS,TAS --
GO:0005887 integral component of plasma membrane IC 7679099
GO:0016020 membrane IDA,IEA 8452530
GO:0016021 integral component of membrane IEA --
GO:0035867 alphav-beta3 integrin-IGF-1-IGF1R complex IDA 19578119
genes like me logo Genes that share ontologies with IGF1R: view

Pathways & Interactions for IGF1R Gene

genes like me logo Genes that share pathways with IGF1R: view

Pathways by source for IGF1R Gene

SIGNOR curated interactions for IGF1R Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for IGF1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0006955 immune response IMP 16886151
GO:0007165 signal transduction TAS 3003744
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0008284 positive regulation of cell proliferation TAS 10749889
genes like me logo Genes that share ontologies with IGF1R: view

Drugs & Compounds for IGF1R Gene

(134) Drugs for IGF1R Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecasermin Approved, Investigational Pharma inhibitor, Target, agonist 0
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 2864
Insulin Glargine Approved Pharma Target, agonist 528
Insulin Human Approved, Investigational Pharma Target 0
Insulin Lispro Approved Pharma Target 240

(59) Additional Compounds for IGF1R Gene - From: HMDB, Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
IGF1
IGF2
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
6bK
1774353-12-6

(5) Tocris Compounds for IGF1R Gene

Compound Action Cas Number
6bK Insulin degrading enzyme (IDE) inhibitor 1774353-12-6
BMS 536924 Dual IR/IGF1R inhibitor 468740-43-4
Insulin (human) recombinant Endogenous peptide agonist 11061-68-0
Mitoglitazone Insulin sensitizer; exhibits low binding affinity at PPARgamma 146062-49-9
Picropodophyllotoxin Selective IGF1R inhibitor 477-47-4

(14) ApexBio Compounds for IGF1R Gene

Compound Action Cas Number
AG-1024 Selective IGF-1R inhibitor 65678-07-1
AXL1717 IGF-1R inhibitor,orally active 477-47-4
AZD-3463 ALK/IGF1R inhibitor 1356962-20-3
BMS-536924 IR/IGF-1R inhibitor 468740-43-4
BMS-754807 IGF-1R/InsR inhibitor,potent and selective 1001350-96-4
GSK1838705A IGF-IR/IR/ALK inhibitor, ATP-competitive 1116235-97-2
GSK1904529A Selective IGF-1R/IR inhibitor 1089283-49-7
Linsitinib IGF1R/IR inhibitor,potent and novel 867160-71-2
MK 0893 Glucagon receptor/IGF-1R antagonist 870823-12-4
NVP-ADW742 Selective IGF-1R inhibitor 475488-23-4
NVP-AEW541 IGF-IR inhibitor, novel, potent and selective 475489-16-8
PQ 401 IGF1R inhibitor,potent and cell-permeable 196868-63-0
TAE226 (NVP-TAE226) FAK inhibitor,potent and ATP-competitive 761437-28-9
XL228 IGF1R/AURORA /FGFR1-3/ABL/SRC family kinases inhibitor 898280-07-4
genes like me logo Genes that share compounds with IGF1R: view

Drug Products

Transcripts for IGF1R Gene

Unigene Clusters for IGF1R Gene

Insulin-like growth factor 1 receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for IGF1R

Alternative Splicing Database (ASD) splice patterns (SP) for IGF1R Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
SP1: - - - - - - - - -
SP2:
SP3: - - -
SP4: - - - -
SP5:
SP6: - - - - -
SP7: - -
SP8: -
SP9:
SP10:
SP11:
SP12:

ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for IGF1R Gene

GeneLoc Exon Structure for
IGF1R
ECgene alternative splicing isoforms for
IGF1R

Expression for IGF1R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGF1R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IGF1R Gene

This gene is overexpressed in Fetal Brain (13.5), Bone (11.7), Retina (6.6), Lung (6.4), and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IGF1R Gene



Protein tissue co-expression partners for IGF1R Gene

NURSA nuclear receptor signaling pathways regulating expression of IGF1R Gene:

IGF1R

SOURCE GeneReport for Unigene cluster for IGF1R Gene:

Hs.643120

mRNA Expression by UniProt/SwissProt for IGF1R Gene:

P08069-IGF1R_HUMAN
Tissue specificity: Found as a hybrid receptor with INSR in muscle, heart, kidney, adipose tissue, skeletal muscle, hepatoma, fibroblasts, spleen and placenta (at protein level). Expressed in a variety of tissues. Overexpressed in tumors, including melanomas, cancers of the colon, pancreas prostate and kidney.

Evidence on tissue expression from TISSUES for IGF1R Gene

  • Nervous system(4.8)
  • Skin(4.5)
  • Pancreas(3.3)
  • Lung(3)
  • Muscle(2.8)
  • Intestine(2.7)
  • Kidney(2.6)
  • Liver(2.6)
  • Heart(2.5)
  • Blood(2.4)
  • Thyroid gland(2.2)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGF1R Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IGF1R: view

Primer Products

No data available for mRNA differential expression in normal tissues for IGF1R Gene

Orthologs for IGF1R Gene

This gene was present in the common ancestor of animals.

Orthologs for IGF1R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGF1R 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia IGFR1 35
  • 98 (a)
OneToOne
IGF1R 34
  • 91.44 (n)
dog
(Canis familiaris)
Mammalia IGF1R 34 35
  • 91.68 (n)
mouse
(Mus musculus)
Mammalia Igf1r 34 16 35
  • 89.56 (n)
rat
(Rattus norvegicus)
Mammalia Igf1r 34
  • 89.35 (n)
oppossum
(Monodelphis domestica)
Mammalia IGF1R 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGF1R 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGF1R 34 35
  • 79.45 (n)
lizard
(Anolis carolinensis)
Reptilia IGF1R 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igf1r 34
  • 72.12 (n)
Str.14302 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398022 34
zebrafish
(Danio rerio)
Actinopterygii igf1ra 34 35
  • 68.51 (n)
igf1rb 35
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta InR 36 34
  • 50.34 (n)
sev 36
  • 49 (a)
hop 36
  • 34 (a)
CG3837 36 35
  • 29 (a)
CG10702 36
  • 26 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta INR 34
  • 50.28 (n)
worm
(Caenorhabditis elegans)
Secernentea daf-2 36 34 35
  • 45.03 (n)
R151.4 36
  • 38 (a)
K09B11.5 36
  • 35 (a)
C24G6.2a 36
  • 34 (a)
C24G6.2b 36
  • 34 (a)
W02A2.4 36
  • 34 (a)
T25B9.5 36
  • 32 (a)
Y69E1A.3 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.344 34
Species where no ortholog for IGF1R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for IGF1R Gene

ENSEMBL:
Gene Tree for IGF1R (if available)
TreeFam:
Gene Tree for IGF1R (if available)

Paralogs for IGF1R Gene

Variants for IGF1R Gene

Sequence variations from dbSNP and Humsavar for IGF1R Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs121912426 other, Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] 98,707,880(+) TACTC(A/G/T)GGGGG reference, missense
rs121912427 other, Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] 98,707,902(+) GAGAA(A/C/G)AATGC reference, synonymous-codon, missense
rs121912429 other, Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] 98,922,162(+) GAAGC(A/G)GAGAG reference, missense
rs141802822 Uncertain significance, Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] 98,957,347(+) TCCTC(C/T)GCGCC reference, missense
VAR_041428 A lung squamous cell carcinoma sample

Structural Variations from Database of Genomic Variants (DGV) for IGF1R Gene

Variant ID Type Subtype PubMed ID
dgv466e214 CNV gain 21293372
dgv4763n54 CNV gain 21841781
dgv4764n54 CNV gain+loss 21841781
dgv4765n54 CNV loss 21841781
dgv4766n54 CNV loss 21841781
esv27037 CNV loss 19812545
esv2750108 CNV deletion 23290073
esv2750109 CNV deletion 23290073
esv32729 CNV gain 17666407
esv33604 CNV gain 17666407
esv3581854 CNV loss 25503493
esv3637411 CNV gain 21293372
esv3892740 CNV loss 25118596
nsv1037264 CNV loss 25217958
nsv1045124 CNV gain 25217958
nsv1055008 CNV gain 25217958
nsv1071238 CNV deletion 25765185
nsv1144746 CNV deletion 24896259
nsv526399 CNV loss 19592680
nsv570694 CNV gain+loss 21841781
nsv570701 CNV gain 21841781
nsv570705 CNV gain 21841781
nsv827457 CNV gain 20364138
nsv952034 CNV deletion 24416366

Variation tolerance for IGF1R Gene

Residual Variation Intolerance Score: 1.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IGF1R Gene

Human Gene Mutation Database (HGMD)
IGF1R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGF1R

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGF1R Gene

Disorders for IGF1R Gene

MalaCards: The human disease database

(33) MalaCards diseases for IGF1R Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
insulin-like growth factor i
  • insulin-like growth factor i deficiency
ring chromosome 15
  • chromosome 15 ring
leprechaunism
  • donohue syndrome
short syndrome
  • pik3r1-associated syndromic insulin resistance with lipoatrophy
acanthosis nigricans
  • an - acanthosis nigricans
- elite association - COSMIC cancer census association via MalaCards
Search IGF1R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IGF1R_HUMAN
  • Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]: A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels. {ECO:0000269 PubMed:14657428, ECO:0000269 PubMed:15928254, ECO:0000269 PubMed:25040157}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IGF1R

Genetic Association Database (GAD)
IGF1R
Human Genome Epidemiology (HuGE) Navigator
IGF1R
Tumor Gene Database (TGDB):
IGF1R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGF1R
genes like me logo Genes that share disorders with IGF1R: view

No data available for Genatlas for IGF1R Gene

Publications for IGF1R Gene

  1. Insulin-like growth factor receptor 1 (IGF1R) gene copy number is associated with survival in operable non-small-cell lung cancer: a comparison between IGF1R fluorescent in situ hybridization, protein expression, and mRNA expression. (PMID: 20351332) Dziadziuszko R. … Hirsch F.R. (J. Clin. Oncol. 2010) 3 22 46 64
  2. Interaction of single nucleotide polymorphisms in ADRB2, ADRB3, TNF, IL6, IGF1R, LIPC, LEPR, and GHRL with physical activity on the risk of type 2 diabetes mellitus and changes in characteristics of the metabolic syndrome: The Finnish Diabetes Prevention Study. (PMID: 18249219) KilpelAoinen T.O. … Uusitupa M. (Metab. Clin. Exp. 2008) 3 22 46 64
  3. Small-molecule inhibition and activation-loop trans-phosphorylation of the IGF1 receptor. (PMID: 18566589) Wu J. … Hubbard S.R. (EMBO J. 2008) 3 4 22 64
  4. Study on insulin resistance and genetic polymorphisms in essential hypertension patients of two different kinds of TCM constitution. (PMID: 17898946) Qian Y.S. … Zhu D.L. (Chin J Integr Med 2007) 3 22 46 64
  5. Hybrid receptors formed by insulin receptor (IR) and insulin-like growth factor I receptor (IGF-IR) have low insulin and high IGF-1 affinity irrespective of the IR splice variant. (PMID: 16831875) Slaaby R. … Brandt J. (J. Biol. Chem. 2006) 3 4 22 64

Products for IGF1R Gene