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

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KLF15 alleviates oxidative stress and apoptosis of H/R-induced trophoblast cells to improve invasion and migration capacity via the activation of IGF1R.
Title: KLF15 alleviates oxidative stress and apoptosis of H/R-induced trophoblast cells to improve invasion and migration capacity via the activation of IGF1R.
Newborn adiposity is associated with cord blood DNA methylation at IGF1R and KLF7.
Title: Newborn adiposity is associated with cord blood DNA methylation at IGF1R and KLF7.
TSHR-IGF-IR complex drives orbital fibroblast misbehavior in thyroid eye disease.
Title: TSHR-IGF-IR complex drives orbital fibroblast misbehavior in thyroid eye disease.
IGF1R signaling induces epithelial-mesenchymal plasticity via ITGAV in cutaneous carcinoma.
Title: IGF1R signaling induces epithelial-mesenchymal plasticity via ITGAV in cutaneous carcinoma.
IGF-1R Transported to the Cell Nuclei to Regulate the Proliferation of Breast Cancer Cells.
Title: IGF-1R Transported to the Cell Nuclei to Regulate the Proliferation of Breast Cancer Cells.
Potential role of IGF-1R in the interaction between orbital fibroblasts and B lymphocytes: an implication for B lymphocyte depletion in the active inflammatory phase of thyroid-associated ophthalmopathy.
Title: Potential role of IGF-1R in the interaction between orbital fibroblasts and B lymphocytes: an implication for B lymphocyte depletion in the active inflammatory phase of thyroid-associated ophthalmopathy.
IGF1R stimulates autophagy, enhances viability, and promotes insulin secretion in pancreatic beta cells in gestational diabetes mellitus by upregulating ATG7.
Title: IGF1R stimulates autophagy, enhances viability, and promotes insulin secretion in pancreatic β cells in gestational diabetes mellitus by upregulating ATG7.
Exosomal miR-223 promotes ARDS by targeting insulin-like growth factor 1 receptor: A cell communication study.
Title: Exosomal miR-223 promotes ARDS by targeting insulin-like growth factor 1 receptor: A cell communication study.
GWAS-identified hyperuricemia-associated IGF1R variant rs6598541 has a limited role in urate mediated inflammation in human mononuclear cells.
Title: GWAS-identified hyperuricemia-associated IGF1R variant rs6598541 has a limited role in urate mediated inflammation in human mononuclear cells.
LncRNA JHDM1D-AS1 promotes osteogenic differentiation of periodontal ligament cells by targeting miR-532-5p to activate IGF1R signaling.
Title: LncRNA JHDM1D-AS1 promotes osteogenic differentiation of periodontal ligament cells by targeting miR-532-5p to activate IGF1R signaling.

Submit: New GeneRIF Correction See all GeneRIFs (1030)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Igf1r (e-PCR), detects polymorphism
- UniSTS:526083

G17859 (e-PCR)
- UniSTS:38660

RH94360 (e-PCR)
- UniSTS:85767

WI-20575 (e-PCR)
- UniSTS:8231

SHGC-81342 (e-PCR)
- UniSTS:102703

IGF1R (e-PCR)
- UniSTS:503091

SHGC-34685 (e-PCR)
- UniSTS:28217

AFMa305ye1 (e-PCR)
- UniSTS:50489

SHGC-148975 (e-PCR)
- UniSTS:176714

RH120855 (e-PCR)
- UniSTS:133715

RH15697 (e-PCR)
- UniSTS:60244

RH94329 (e-PCR)
- UniSTS:87391

RH92510 (e-PCR)
- UniSTS:84085

SHGC-156036 (e-PCR)
- UniSTS:182917

RH120174 (e-PCR)
- UniSTS:132240

GDB:187366 (e-PCR)
- UniSTS:155545

STS-T85175 (e-PCR)
- UniSTS:71083

SHGC-58525 (e-PCR)
- UniSTS:94380

RH44703 (e-PCR)
- UniSTS:78510

NoName (e-PCR)
- UniSTS:481973

WI-21793 (e-PCR)
- UniSTS:22208

RH69514 (e-PCR)
- UniSTS:16327

RH48245 (e-PCR)
- UniSTS:34510

D15S906 (e-PCR)
- UniSTS:71889

RH76769 (e-PCR)
- UniSTS:88021

FAH (e-PCR)
- UniSTS:479963

RH121492 (e-PCR)
- UniSTS:134620

RH77818 (e-PCR)
- UniSTS:74462

RH70207 (e-PCR)
- UniSTS:77278

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables insulin receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables insulin receptor substrate binding	IBA Inferred from Biological aspect of Ancestor more info
enables insulin receptor substrate binding	IEA Inferred from Electronic Annotation more info
enables insulin receptor substrate binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin-like growth factor I binding	IDA Inferred from Direct Assay more info	PubMed
enables insulin-like growth factor I binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin-like growth factor binding	IDA Inferred from Direct Assay more info	PubMed
enables insulin-like growth factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables insulin-like growth factor receptor activity	TAS Traceable Author Statement more info	PubMed
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol 3-kinase binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol 3-kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein tyrosine kinase activity	TAS Traceable Author Statement more info
enables structural molecule activity	IDA Inferred from Direct Assay more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in amyloid-beta clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amyloid-beta	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to glucose stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in dendritic spine maintenance	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in insulin receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in insulin-like growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin-like growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in insulin-like growth factor receptor signaling pathway	TAS Traceable Author Statement more info
involved_in negative regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within peptidyl-tyrosine autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IC Inferred by Curator more info	PubMed
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein-containing complex disassembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in transcytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of alphav-beta3 integrin-IGF-1-IGF1R complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info
part_of insulin receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein kinase complex	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: insulin-like growth factor 1 receptor

Names: IGF-I receptor

NP_000866.1

EC 2.7.10.1

NP_001278787.1

EC 2.7.10.1

XP_011519818.1

EC 2.7.10.1

XP_011519819.1

EC 2.7.10.1

XP_016877626.1

EC 2.7.10.1

XP_047288398.1

EC 2.7.10.1

XP_047288399.1

EC 2.7.10.1

XP_047288400.1

EC 2.7.10.1

XP_047288401.1

EC 2.7.10.1

XP_054233804.1

EC 2.7.10.1

XP_054233805.1

EC 2.7.10.1

XP_054233806.1

EC 2.7.10.1

XP_054233807.1

EC 2.7.10.1

XP_054233808.1

EC 2.7.10.1

XP_054233809.1

EC 2.7.10.1

XP_054233810.1

EC 2.7.10.1

XP_054233811.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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

NG_009492.1 RefSeqGene

Range

4008..319999

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1055

mRNA and Protein(s)

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
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

98648539..98964530

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B1B5Y2, P08069, Q14CV2, Q9UCC0
XM_047432444.1 → XP_047288400.1 insulin-like growth factor 1 receptor isoform X4

UniProtKB/TrEMBL

C9J5X1
XM_047432445.1 → XP_047288401.1 insulin-like growth factor 1 receptor isoform X5
XM_017022137.2 → XP_016877626.1 insulin-like growth factor 1 receptor isoform X1
XM_047432442.1 → XP_047288398.1 insulin-like growth factor 1 receptor isoform X2
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
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

NC_060939.1 Alternate T2T-CHM13v2.0

Range

96412912..96728919

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B1B5Y2, P08069, Q14CV2, Q9UCC0
XM_054377832.1 → XP_054233807.1 insulin-like growth factor 1 receptor isoform X4

UniProtKB/TrEMBL

C9J5X1
XM_054377833.1 → XP_054233808.1 insulin-like growth factor 1 receptor isoform X5
XM_054377835.1 → XP_054233810.1 insulin-like growth factor 1 receptor isoform X8
XM_054377834.1 → XP_054233809.1 insulin-like growth factor 1 receptor isoform X5
XM_054377829.1 → XP_054233804.1 insulin-like growth factor 1 receptor isoform X1
XM_054377830.1 → XP_054233805.1 insulin-like growth factor 1 receptor isoform X2
XM_054377836.1 → XP_054233811.1 insulin-like growth factor 1 receptor isoform X7