Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3480
Gene name Gene Name - the full gene name approved by the HGNC.
Insulin like growth factor 1 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGF1R
Synonyms (NCBI Gene) Gene synonyms aliases
CD221, IGFIR, IGFR, JTK13
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.3
Summary Summary 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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004460 hsa-miR-133b Luciferase reporter assay 19695767
MIRT005364 hsa-miR-7-5p Flow, qRT-PCR, Western blot 20819078
MIRT005364 hsa-miR-7-5p Flow, qRT-PCR, Western blot 20819078
MIRT005364 hsa-miR-7-5p Flow, qRT-PCR, Western blot 20819078
MIRT005364 hsa-miR-7-5p Flow, qRT-PCR, Western blot 20819078
Transcription factors
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.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147370 5465 ENSG00000140443
Protein
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
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 , 7PH8 , 7S0Q , 7S8V , 7U23 , 7V3P , 7XGD , 7XLC , 7YRR , 8PYI , 8PYJ , 8PYK , 8PYL , 8PYM , 8PYN , 8TAN
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
Tissue specificity 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 melano
Sequence
MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLH
ILLISKAEDYRSYRFPKLTVITEYLLLFRVAGLESLGDLFPNLTVIRGWKLFYNYALVIF
EMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLIL
DAVSNNYIVGNKPPKECGD
LCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKMCPSTCGKRACTENNECCHPECLGSCS
APDNDTACVACRHYYYAGVCVPACPPNTYRFEGWRCVDRDFCANILSAESSDSEGFVIHD
GECMQECPSGFIRNGSQSMYCIPCEGPCPKVCE
EEKKTKTIDSVTSAQMLQGCTIFKGNL
LINIRRGNNIASELENFMGLIEVVTGYVKIRHSHALVSLSFLKNLRLILGEEQLEGNYSF
YVLDNQNLQQLWDWDHRNLTIKAGKMYFAFNPKLCVSEIYRMEEVT
GTKGRQSKGDINTR
NNGERASCESDVLHFTSTTTSKNRIIITWHRYRPPDYRDLISFTVYYKEAPFKNVTEYDG
QDACGSNSWNMVDVDLPPNKDVEPGILLHGLKPWTQYAVYVKAVTLTMVENDHIRGAKSE
ILYIRTNASVPSIPLDVLSASNSSSQLIVKWNPPSLPNGNLSYYIVRWQRQPQDGYLYRH
NYCSKDKIPIRKYADGTIDIEEVTENPKTEVCGGEKGPCCACPKTEAEKQAEKEEAEYRK
VFENFLHNSIFVPRPERKRRDVMQVANTTMSSRSRNTTAADTYNITDPEELETEYPFFES
RVDNKERTVISNLRPFTLYRIDIHSCNHEAEKLGCSASNFVFARTMPAEGADDIPGPVTW
EPRPENSIFLKWPEPENPNGLILMYEIKYGSQVEDQRECVSRQEYRKYGGAKLNRLNPGN
YTARIQATSLSGNGSWTDPVFFYVQAKTGYENFIHLIIALPVAVLLIVGGLVIMLYVFHR
KRNNSRLGNGVLYASVNPEYFSAADVYVPDEWEVAREKITMSRELGQGSFGMVYEGVAKG
VVKDEPETRVAIKTVNEAASMRERIEFLNEASVMKEFNCHHVVRLLGVVSQGQPTLVIME
LMTRGDLKSYLRSLRPEMENNPVLAPPSLSKMIQMAGEIADGMAYLNANKFVHRDLAARN
CMVAEDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMSPESLKDGVFTTYSDVWSFGV
VLWEIATLAEQPYQGLSNEQVLRFVMEGGLLDKPDNCPDMLFELMRMCWQYNPKMRPSFL
EIISSI
KEEMEPGFREVSFYYSEENKLPEPEELDLEPENMESVPLDPSASSSSLPLPDRH
SGHKAENGPGPGVLVLRASFDERQPYAHMNGGRKNERALPLPQSSTC
Sequence length 1367
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Endometriosis Endometriosis GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Diabetes Diabetes GWAS
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acne Vulgaris Associate 20927124
Adenocarcinoma Associate 1325950, 21728395, 22159423, 25944691, 27088794
Adenocarcinoma of Lung Associate 23990442, 27213344, 28302721, 29054976, 29928883, 35974000
Adenoma Stimulate 21728395, 35931997
Adenoma Associate 24194259, 25017244
Adenoma Villous Stimulate 21728395
Adenomatous Polyps Stimulate 21728395, 23801064
Adrenocortical Carcinoma Associate 25110710, 30838516, 40038716
Alzheimer Disease Inhibit 24468113, 30056117
Alzheimer Disease Associate 36604493