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Aliases for IGF1R Gene

Aliases for IGF1R Gene

  • Insulin Like Growth Factor 1 Receptor 2 3 5
  • IGF-I Receptor 3 4
  • EC 2.7.10.1 4 63
  • Insulin-Like Growth Factor 1 Receptor 2
  • Insulin-Like Growth Factor I Receptor 4
  • Soluble IGF1R Variant 1 3
  • Soluble IGF1R Variant 2 3
  • CD221 Antigen 4
  • EC 2.7.10 63
  • 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]

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 growth delay due to insulin-like growth factor i resistance. Among its related pathways are Signaling by GPCR and Alzheimers Disease Pathway. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is ALK.

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

Promoters for IGF1R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IGF1R on UCSC Golden Path with GeneCards custom track

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.
    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

Proteomics data for IGF1R Gene at MOPED

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 Lys 1033, Lys 1168, and Lys 1171
  • Glycosylation at Asn 51, Asn 102, Asn 135, Asn 244, Asn 314, Asn 417, Asn 438, Asn 534, Asn 607, Asn 622, Asn 640, Asn 747, Asn 756, Asn 764, Asn 900, and Asn 913
  • Modification sites at PhosphoSitePlus

Other Protein References for IGF1R Gene

Protein Products

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 :
  • Contains 4 fibronectin type-III domains.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Domain:
  • Contains 4 fibronectin type-III domains.
  • Contains 1 protein kinase domain.
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:0004713 protein tyrosine kinase activity IEA,TAS --
GO:0005010 insulin-like growth factor-activated receptor activity IDA 7679099
GO:0005515 protein binding IEA,IPI 7541045
GO:0031994 insulin-like growth factor I binding IPI 8452530
GO:0042802 identical protein binding IPI 11448933
genes like me logo Genes that share ontologies with IGF1R: view

Phenotypes for IGF1R Gene

GenomeRNAi human phenotypes for IGF1R:
MGI mutant phenotypes for IGF1R:
inferred from 8 alleles
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

miRNA for IGF1R Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for IGF1R Gene COMPARTMENTS Subcellular localization image for IGF1R gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
cytosol 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for IGF1R Gene

Pathways & Interactions for IGF1R Gene

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

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:0038083 peptidyl-tyrosine autophosphorylation IMP 19545541
GO:0045740 positive regulation of DNA replication IMP 12138094
genes like me logo Genes that share ontologies with IGF1R: view

Drugs & Compounds for IGF1R Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecasermin Approved, Investigational Pharma inhibitor, Target, agonist 0
Paclitaxel Approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 2621
Insulin Glargine Approved Pharma Target, agonist 495
Insulin Lispro Approved Pharma Target 222
Insulin Regular Approved, Experimental, Investigational Pharma Target 0

(62) Additional Compounds for IGF1R Gene - From: Novoseek, HMDB, 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
BMS 536924
468740-43-4
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:

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 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, MOPED, and MaxQB for IGF1R Gene



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.
genes like me logo Genes that share expression patterns with IGF1R: view

Protein tissue co-expression partners for IGF1R Gene

Primer Products

In Situ Assay 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 35
  • 99.49 (n)
  • 99.71 (a)
IGF1R 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGFR1 36
  • 98 (a)
OneToOne
IGF1R 35
  • 91.44 (n)
  • 97.73 (a)
dog
(Canis familiaris)
Mammalia IGF1R 35
  • 91.68 (n)
  • 98.24 (a)
IGF1R 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Igf1r 36
  • 96 (a)
OneToOne
Igf1r 16
Igf1r 35
  • 89.56 (n)
  • 96.12 (a)
oppossum
(Monodelphis domestica)
Mammalia IGF1R 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGF1R 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Igf1r 35
  • 89.35 (n)
  • 95.82 (a)
chicken
(Gallus gallus)
Aves IGF1R 36
  • 84 (a)
OneToOne
IGF1R 35
  • 79.45 (n)
  • 85.37 (a)
lizard
(Anolis carolinensis)
Reptilia IGF1R 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398022 35
tropical clawed frog
(Silurana tropicalis)
Amphibia igf1r 35
  • 72.12 (n)
  • 77.42 (a)
Str.14302 35
zebrafish
(Danio rerio)
Actinopterygii igf1ra 35
  • 68.51 (n)
  • 69.08 (a)
igf1ra 36
  • 66 (a)
OneToMany
igf1rb 36
  • 64 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta INR 35
  • 50.28 (n)
  • 46.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3837 36
  • 28 (a)
OneToMany
CG10702 37
  • 26 (a)
CG3837 37
  • 29 (a)
hop 37
  • 34 (a)
InR 37
  • 37 (a)
sev 37
  • 49 (a)
InR 35
  • 50.34 (n)
  • 41.89 (a)
worm
(Caenorhabditis elegans)
Secernentea daf-2 36
  • 23 (a)
OneToMany
daf-2 35
  • 45.03 (n)
  • 35.98 (a)
C24G6.2a 37
  • 34 (a)
C24G6.2b 37
  • 34 (a)
daf-2 37
  • 30 (a)
K09B11.5 37
  • 35 (a)
R151.4 37
  • 38 (a)
T25B9.5 37
  • 32 (a)
W02A2.4 37
  • 34 (a)
Y69E1A.3 37
  • 32 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.344 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for IGF1R:
  • 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

Paralogs for IGF1R Gene

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

Variants for IGF1R Gene

Sequence variations from dbSNP and Humsavar for IGF1R Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1018275 -- 98,792,407(+) AGATT(A/C)ATCTT intron-variant
rs907799 -- 98,729,434(+) TTGGA(A/G)TTTTT intron-variant
rs907803 -- 98,807,105(-) AGGGC(A/G)TGAGC intron-variant
rs907804 -- 98,788,062(+) TCTCT(C/G)TGTGT intron-variant
rs907805 -- 98,798,310(+) aggga(A/G)ggGAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv827457 CNV Gain 20364138
esv27037 CNV Loss 19812545
esv2750108 CNV Deletion 23290073
esv2750109 CNV Deletion 23290073
esv32729 CNV Gain 17666407
esv33604 CNV Gain 17666407
nsv526399 CNV Loss 19592680
nsv904540 CNV Loss 21882294
nsv904541 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
IGF1R
Human Gene Mutation Database (HGMD)
IGF1R

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

Disorders for IGF1R Gene

MalaCards: The human disease database

(34) 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, resistance to
growth delay due to insulin-like growth factor i resistance
  • resistance to igf-1
leprechaunism
  • donohue syndrome
ring chromosome 15
  • chromosome 15 ring
uveal melanoma
  • melanoma of uvea
- 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}. 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. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. (PMID: 14657428) Abuzzahab M.J. … Chernausek S.D. (N. Engl. J. Med. 2003) 3 4 48 67
  2. 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 23
  3. Discovery and SAR of thiazolidine-2,4-dione analogues as insulin-like growth factor-1 receptor (IGF-1R) inhibitors via hierarchical virtual screening. (PMID: 20178321) Liu X. … Li H. (J. Med. Chem. 2010) 3 23
  4. Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation. (PMID: 20103656) Kruis T. … PfAoffle R. (J. Clin. Endocrinol. Metab. 2010) 3 23
  5. Heterotrimerization of the growth factor receptors erbB2, erbB3, and insulin-like growth factor-i receptor in breast cancer cells resistant to herceptin. (PMID: 20103628) Huang X. … Liu B. (Cancer Res. 2010) 3 23

Products for IGF1R Gene

  • Addgene plasmids for IGF1R

Sources for IGF1R Gene

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