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    IGF1R insulin like growth factor 1 receptor [ Homo sapiens (human) ]

    Gene ID: 3480, updated on 4-Jan-2025

    Summary

    Official Symbol
    IGF1Rprovided by HGNC
    Official Full Name
    insulin like growth factor 1 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:5465
    See related
    Ensembl:ENSG00000140443 MIM:147370; AllianceGenome:HGNC:5465
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IGFR; CD221; IGFIR; JTK13
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 8.9), ovary (RPKM 8.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IGF1R in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (98648539..98964530)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (96412912..96728919)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (99191768..99507759)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42822 Neighboring gene long intergenic non-protein coding RNA 2351 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:98957206-98958405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:98959168-98959668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:98959669-98960169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:98964233-98964808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:98965386-98965961 Neighboring gene Sharpr-MPRA regulatory regions 4169 and 6096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6853 Neighboring gene zinc finger CCHC-type containing 9 pseudogene Neighboring gene protein FAM169B Neighboring gene ReSE screen-validated silencer GRCh37_chr15:99031875-99032074 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:99056319-99056501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99122390-99122890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99122891-99123391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99135615-99136114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99143220-99143720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99143721-99144221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99148269-99148769 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:99189870-99190491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6857 Neighboring gene Sharpr-MPRA regulatory region 7544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99204502-99205312 Neighboring gene Sharpr-MPRA regulatory region 1749 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:99211661-99212860 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:99213965-99214690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99243959-99244458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99243457-99243958 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:99247546-99247726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99256117-99256819 Neighboring gene VISTA enhancer hs1932 Neighboring gene IGF1R antisense imprinted non-protein coding RNA Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:99277618-99278148 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:99301249-99301750 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:99301751-99302250 Neighboring gene uncharacterized LOC124903560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99316261-99316843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99316844-99317425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99319525-99320432 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99320433-99321339 Neighboring gene Sharpr-MPRA regulatory region 1759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99340181-99340972 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:99342674-99343369 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99366260-99366818 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:99365701-99366259 Neighboring gene NANOG hESC enhancer GRCh37_chr15:99370256-99370757 Neighboring gene uncharacterized LOC124903561 Neighboring gene microRNA 4714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99427064-99427656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99427657-99428249 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:99439536-99440735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99451095-99451595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99558507-99559282 Neighboring gene pyroglutamyl-peptidase I like Neighboring gene leukemia-associated non-coding IGF1R activator RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (217 hits/1432 screens)

    Associated conditions

    Description Tests
    Growth delay due to insulin-like growth factor I resistance
    MedGen: C1849157 OMIM: 270450 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-11-08)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2022-11-08)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
    EBI GWAS Catalog
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC18216, MGC142170, MGC142172

    Gene Ontology Provided by GOA

    Items 1 - 25 of 36
    Function Evidence Code Pubs
    enables ATP binding  
    enables G-protein alpha-subunit binding  
    enables GPI-linked ephrin receptor activity  
    enables boss receptor activity  
    enables brain-derived neurotrophic factor receptor activity  
    enables epidermal growth factor receptor activity  
    enables fibroblast growth factor receptor activity  
    enables hepatocyte growth factor receptor activity  
    enables histone H2AXY142 kinase activity  
    enables histone H3Y41 kinase activity  
    enables identical protein binding PubMed 
    enables insulin binding PubMed 
    enables insulin receptor activity  
    enables insulin receptor binding PubMed 
    enables insulin receptor substrate binding  
    enables insulin receptor substrate binding PubMed 
    enables insulin-like growth factor I binding PubMed 
    enables insulin-like growth factor I binding PubMed 
    enables insulin-like growth factor binding PubMed 
    enables insulin-like growth factor receptor activity PubMed 
    enables macrophage colony-stimulating factor receptor activity  
    enables phosphatidylinositol 3-kinase binding PubMed 
    enables placental growth factor receptor activity  
    enables platelet-derived growth factor alpha-receptor activity  
    enables platelet-derived growth factor beta-receptor activity  
    enables protein binding PubMed 
    enables protein transporter activity PubMed 
    enables protein tyrosine kinase activity PubMed 
    enables protein tyrosine kinase activity PubMed 
    enables protein tyrosine kinase activity  
    enables protein tyrosine kinase collagen receptor activity  
    enables protein-containing complex binding  
    enables stem cell factor receptor activity  
    enables structural molecule activity PubMed 
    enables transmembrane-ephrin receptor activity  
    enables vascular endothelial growth factor receptor activity  
    Items 1 - 25 of 36
    Items 1 - 25 of 70
    Process Evidence Code Pubs
    involved_in Kit signaling pathway  
    involved_in amyloid-beta clearance PubMed 
    involved_in axonogenesis  
    involved_in brain-derived neurotrophic factor receptor signaling pathway  
    involved_in cardiac atrium development  
    involved_in cellular response to aldosterone  
    involved_in cellular response to amyloid-beta PubMed 
    involved_in cellular response to angiotensin  
    involved_in cellular response to dexamethasone stimulus  
    involved_in cellular response to estradiol stimulus  
    involved_in cellular response to glucose stimulus  
    involved_in cellular response to insulin-like growth factor stimulus  
    involved_in cellular response to mechanical stimulus  
    involved_in cellular response to progesterone stimulus  
    involved_in cellular response to testosterone stimulus  
    involved_in cellular response to transforming growth factor beta stimulus  
    involved_in cellular response to zinc ion starvation  
    involved_in cellular senescence  
    involved_in cerebellum development  
    involved_in chromatin remodeling  
    involved_in collagen-activated tyrosine kinase receptor signaling pathway  
    involved_in dendritic spine maintenance PubMed 
    involved_in ephrin receptor signaling pathway  
    involved_in epidermal growth factor receptor signaling pathway  
    involved_in establishment of cell polarity  
    involved_in estrous cycle  
    involved_in fibroblast growth factor receptor signaling pathway  
    involved_in hepatocyte growth factor receptor signaling pathway  
    involved_in hippocampus development  
    involved_in immune response PubMed 
    involved_in insulin receptor signaling pathway PubMed 
    involved_in insulin-like growth factor receptor signaling pathway  
    involved_in insulin-like growth factor receptor signaling pathway PubMed 
    involved_in insulin-like growth factor receptor signaling pathway  
    involved_in macrophage colony-stimulating factor signaling pathway  
    involved_in multicellular organism development  
    involved_in negative regulation of MAPK cascade PubMed 
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of cholangiocyte apoptotic process  
    involved_in negative regulation of hepatocyte apoptotic process  
    involved_in negative regulation of muscle cell apoptotic process  
    acts_upstream_of_or_within peptidyl-tyrosine autophosphorylation PubMed 
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in platelet-derived growth factor receptor-alpha signaling pathway  
    involved_in platelet-derived growth factor receptor-beta signaling pathway  
    involved_in positive regulation of DNA metabolic process  
    involved_in positive regulation of MAPK cascade  
    involved_in positive regulation of axon regeneration  
    involved_in positive regulation of cell migration PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of cold-induced thermogenesis PubMed 
    involved_in positive regulation of cytokinesis  
    involved_in positive regulation of osteoblast proliferation  
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in positive regulation of protein-containing complex disassembly PubMed 
    involved_in positive regulation of smooth muscle cell proliferation  
    involved_in positive regulation of steroid hormone biosynthetic process  
    involved_in protein autophosphorylation PubMed 
    involved_in regulation of JNK cascade  
    involved_in regulation of JNK cascade PubMed 
    involved_in response to L-glutamate  
    involved_in response to alkaloid  
    involved_in response to ethanol  
    involved_in response to nicotine  
    involved_in response to vitamin E  
    involved_in signal transduction PubMed 
    involved_in transcytosis PubMed 
    involved_in vascular endothelial growth factor receptor-1 signaling pathway  
    involved_in vascular endothelial growth factor signaling pathway  
    Items 1 - 25 of 70
    Component Evidence Code Pubs
    located_in T-tubule  
    part_of alphav-beta3 integrin-IGF-1-IGF1R complex PubMed 
    is_active_in axon  
    located_in caveola  
    part_of insulin receptor complex  
    located_in intracellular membrane-bounded organelle PubMed 
    located_in membrane PubMed 
    located_in neuronal cell body  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in plasma membrane  
    part_of protein kinase complex PubMed 
    part_of receptor complex PubMed 

    General protein information

    Preferred Names
    insulin-like growth factor 1 receptor
    Names
    IGF-I receptor
    NP_000866.1
    NP_001278787.1
    XP_011519818.1
    XP_011519819.1
    XP_016877626.1
    XP_047288398.1
    XP_047288399.1
    XP_047288400.1
    XP_047288401.1
    XP_054233804.1
    XP_054233805.1
    XP_054233806.1
    XP_054233807.1
    XP_054233808.1
    XP_054233809.1
    XP_054233810.1
    XP_054233811.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009492.1 RefSeqGene

      Range
      4008..319999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1055

    mRNA and Protein(s)

    1. NM_000875.5 → NP_000866.1  insulin-like growth factor 1 receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_000866.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB425196, AC069029, AC118658, BC088377, BC113610, X04434
      Consensus CDS
      CCDS10378.1
      UniProtKB/Swiss-Prot
      B1B5Y2, P08069, Q14CV2, Q9UCC0
      Related
      ENSP00000497069.1, ENST00000650285.1
      Conserved Domains (4) summary
      cd05032
      Location:992 → 1268
      PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases
      cd00063
      Location:835 → 924
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00757
      Location:175 → 330
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:352 → 466
      Recep_L_domain; Receptor L domain
    2. NM_001291858.2 → NP_001278787.1  insulin-like growth factor 1 receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_001278787.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the coding region, compared to variant 1. The resulting isoform (2) is one aa shorter and has a different internal aa, compared to isoform 1.
      Source sequence(s)
      AB425196, AC069029, AC118658, BC088377, X04434
      Consensus CDS
      CCDS73785.1
      UniProtKB/TrEMBL
      C9J5X1
      Related
      ENSP00000496919.1, ENST00000649865.1
      Conserved Domains (6) summary
      cd05032
      Location:991 → 1267
      PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases
      cd00063
      Location:835 → 924
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00064
      Location:230 → 277
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam00757
      Location:175 → 330
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:352 → 466
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:998 → 1265
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      98648539..98964530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432443.1 → XP_047288399.1  insulin-like growth factor 1 receptor isoform X3

      UniProtKB/Swiss-Prot
      B1B5Y2, P08069, Q14CV2, Q9UCC0
    2. XM_047432444.1 → XP_047288400.1  insulin-like growth factor 1 receptor isoform X4

      UniProtKB/TrEMBL
      C9J5X1
    3. XM_047432445.1 → XP_047288401.1  insulin-like growth factor 1 receptor isoform X5

    4. XM_017022137.2 → XP_016877626.1  insulin-like growth factor 1 receptor isoform X1

    5. XM_047432442.1 → XP_047288398.1  insulin-like growth factor 1 receptor isoform X2

    6. XM_011521516.3 → XP_011519818.1  insulin-like growth factor 1 receptor isoform X6

      Conserved Domains (4) summary
      cd05032
      Location:689 → 965
      PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases
      cd00063
      Location:532 → 621
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00757
      Location:1 → 27
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:49 → 163
      Recep_L_domain; Receptor L domain
    7. XM_011521517.3 → XP_011519819.1  insulin-like growth factor 1 receptor isoform X7

      Conserved Domains (3) summary
      cd05032
      Location:547 → 823
      PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases
      cd00063
      Location:390 → 479
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07714
      Location:554 → 821
      Pkinase_Tyr; Protein tyrosine kinase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      96412912..96728919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377831.1 → XP_054233806.1  insulin-like growth factor 1 receptor isoform X3

      UniProtKB/Swiss-Prot
      B1B5Y2, P08069, Q14CV2, Q9UCC0
    2. XM_054377832.1 → XP_054233807.1  insulin-like growth factor 1 receptor isoform X4

      UniProtKB/TrEMBL
      C9J5X1
    3. XM_054377833.1 → XP_054233808.1  insulin-like growth factor 1 receptor isoform X5

    4. XM_054377835.1 → XP_054233810.1  insulin-like growth factor 1 receptor isoform X8

    5. XM_054377834.1 → XP_054233809.1  insulin-like growth factor 1 receptor isoform X5

    6. XM_054377829.1 → XP_054233804.1  insulin-like growth factor 1 receptor isoform X1

    7. XM_054377830.1 → XP_054233805.1  insulin-like growth factor 1 receptor isoform X2

    8. XM_054377836.1 → XP_054233811.1  insulin-like growth factor 1 receptor isoform X7

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