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IGF1R (insulin like growth factor 1 receptor)

Gene
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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Hormone signaling
Oocyte meiosis
Autophagy - animal
Endocytosis
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Focal adhesion
Adherens junction
Signaling pathways regulating pluripotency of stem cells
Long-term depression
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Pathways in cancer
Transcriptional misregulation in cancer
Proteoglycans in cancer
Glioma
Prostate cancer
Melanoma
Breast cancer
Hepatocellular carcinoma
  Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
IRS-related events triggered by IGF1R
SHC-related events triggered by IGF1R
Extra-nuclear estrogen signaling
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Adrenocortical carcinoma Adrenocortical carcinoma rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664, rs587782705, rs193920817, rs55863639, rs730882029, rs730882005, rs730882025, rs730881999, rs786201838, rs786202962, rs863224451, rs863224499, rs760043106, rs11540652, rs11540654, rs876658483, rs587781525, rs1057519986, rs1057519989, rs530941076, rs1060501197, rs1064792930, rs1064794618, rs1131691042, rs1555526131, rs1057519990, rs1555526097, rs1567554500, rs1131691039, rs1202793339, rs769697802 22407999
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 15750215
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19565504
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 29892015, 30061737
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety
Mammary neoplasms Mammary Neoplasms, Human, Mammary Neoplasms 21057462
Clinodactyly Clinodactyly of fingers, Clinodactyly
Posterolateral diaphragmatic hernia Congenital hernia of foramen of Bochdalek 20620343, 21433279

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