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IGF1R (insulin like growth factor 1 receptor)
Gene
Gene SNPs Transcription factors Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3480
Gene nameGene Name - the full gene name approved by the HGNC.
Insulin like growth factor 1 receptor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
IGF1R
SynonymsGene synonyms aliases
CD221, IGFIR, IGFR, JTK13
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.3
SummarySummary of gene provided in NCBI Entrez 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]
SNPsSNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs33958176 G>A Protective, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs34364279 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs45495500 C>T Conflicting-interpretations-of-pathogenicity Intron variant
rs45598332 T>C,G Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs398028512 AAA>-,A,AA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAAAAAA Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, 3 prime UTR variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT000364 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR, Western blot 19726678
MIRT000364 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR, Western blot 23056576
MIRT000364 hsa-miR-122-5p Reporter assay;qRT-PCR 20884628
MIRT004460 hsa-miR-133b Luciferase reporter assay 19695767
MIRT004460 hsa-miR-133b Western blot 24391788
Transcription factors
Gene SNPs Transcription factors Other IDs
Transcription factor Regulation Reference
AR Activation 15033751;17202144
ATM Unknown 11172010
BRCA1 Unknown 11001824;19223505
KLF6 Unknown 15131018
NKX3-1 Repression 22179513
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs
GO ID Ontology Definition Evidence Reference
GO:0004713 Function Protein tyrosine kinase activity IDA 7679099, 11162456
GO:0004713 Function Protein tyrosine kinase activity IMP 11884589
GO:0004713 Function Protein tyrosine kinase activity TAS
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IBA 21873635
GO:0005009 Function Insulin-activated receptor activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Transcription factors Other IDs
UniProt ID P08069
Protein name Insulin-like growth factor 1 receptor (EC 2.7.10.1) (Insulin-like growth factor I receptor) (IGF-I receptor) (CD antigen CD221) [Cleaved into: Insulin-like growth factor 1 receptor alpha chain; Insulin-like growth factor 1 receptor beta chain]
Protein 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.; 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.
PDB 1IGR , 1JQH , 1K3A , 1M7N , 1P4O , 2OJ9 , 2ZM3 , 3D94 , 3F5P , 3I81 , 3LVP , 3LW0 , 3NW5 , 3NW6 , 3NW7 , 3O23 , 3QQU , 4D2R , 4XSS , 5FXQ , 5FXR , 5FXS , 5HZN , 5U8Q , 5U8R , 6JK8 , 6VWG , 6VWH , 6VWI , 6VWJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01030 Recep_L_domain
51 → 161
Receptor L domain
 Repeat
PF00757 Furin-like
175 → 333
Furin-like cysteine rich region
 Domain
PF01030 Recep_L_domain
352 → 466
Receptor L domain
 Repeat
PF07714 PK_Tyr_Ser-Thr
999 → 1266
Protein tyrosine and serine/threonine kinase
 Domain
Sequence 
MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLH
ILLISKAEDYRSYRFPKLTVITEYLLLFRVAGLESLGDLFPNLTVIRGWKLFYNYALVIF
EMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLILDAVSNNYIVGNKPPKECGD
LCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKMCPSTCGKRACTENNECCHPECLGSCS
APDNDTACVACRHYYYAGVCVPACPPNTYRFEGWRCVDRDFCANILSAESSDSEGFVIHD
GECMQECPSGFIRNGSQSMYCIPCEGPCPKVCEEEKKTKTIDSVTSAQMLQGCTIFKGNL
LINIRRGNNIASELENFMGLIEVVTGYVKIRHSHALVSLSFLKNLRLILGEEQLEGNYSF
YVLDNQNLQQLWDWDHRNLTIKAGKMYFAFNPKLCVSEIYRMEEVTGTKGRQSKGDINTR
NNGERASCESDVLHFTSTTTSKNRIIITWHRYRPPDYRDLISFTVYYKEAPFKNVTEYDG
QDACGSNSWNMVDVDLPPNKDVEPGILLHGLKPWTQYAVYVKAVTLTMVENDHIRGAKSE
ILYIRTNASVPSIPLDVLSASNSSSQLIVKWNPPSLPNGNLSYYIVRWQRQPQDGYLYRH
NYCSKDKIPIRKYADGTIDIEEVTENPKTEVCGGEKGPCCACPKTEAEKQAEKEEAEYRK
VFENFLHNSIFVPRPERKRRDVMQVANTTMSSRSRNTTAADTYNITDPEELETEYPFFES
RVDNKERTVISNLRPFTLYRIDIHSCNHEAEKLGCSASNFVFARTMPAEGADDIPGPVTW
EPRPENSIFLKWPEPENPNGLILMYEIKYGSQVEDQRECVSRQEYRKYGGAKLNRLNPGN
YTARIQATSLSGNGSWTDPVFFYVQAKTGYENFIHLIIALPVAVLLIVGGLVIMLYVFHR
KRNNSRLGNGVLYASVNPEYFSAADVYVPDEWEVAREKITMSRELGQGSFGMVYEGVAKG
VVKDEPETRVAIKTVNEAASMRERIEFLNEASVMKEFNCHHVVRLLGVVSQGQPTLVIME
LMTRGDLKSYLRSLRPEMENNPVLAPPSLSKMIQMAGEIADGMAYLNANKFVHRDLAARN
CMVAEDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMSPESLKDGVFTTYSDVWSFGV
VLWEIATLAEQPYQGLSNEQVLRFVMEGGLLDKPDNCPDMLFELMRMCWQYNPKMRPSFL
EIISSIKEEMEPGFREVSFYYSEENKLPEPEELDLEPENMESVPLDPSASSSSLPLPDRH
SGHKAENGPGPGVLVLRASFDERQPYAHMNGGRKNERALPLPQSSTC
Sequence length 1367
Interactions View interactions

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