Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3480
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IGF1R   Gene   UCSC   Ensembl
Aliases CD221, IGFIR, IGFR, JTK13
Gene name insulin like growth factor 1 receptor
Alternate names insulin-like growth factor 1 receptor, IGF-I receptor, soluble IGF1R variant 1, soluble IGF1R variant 2,
Gene location 15q26.3 (98648538: 98964529)     Exons: 25     NC_000015.10
Gene summary(Entrez) 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]
OMIM 147370

Protein Summary

Protein general information P08069  

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]

Length: 1367  Mass: 154,793

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 MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLHILLISKAEDYRSYRF
PKLTVITEYLLLFRVAGLESLGDLFPNLTVIRGWKLFYNYALVIFEMTNLKDIGLYNLRNITRGAIRIEKNADLC
YLSTVDWSLILDAVSNNYIVGNKPPKECGDLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKMCPSTCGKRACT
ENNECCHPECLGSCSAPDNDTACVACRHYYYAGVCVPACPPNTYRFEGWRCVDRDFCANILSAESSDSEGFVIHD
GECMQECPSGFIRNGSQSMYCIPCEGPCPKVCEEEKKTKTIDSVTSAQMLQGCTIFKGNLLINIRRGNNIASELE
NFMGLIEVVTGYVKIRHSHALVSLSFLKNLRLILGEEQLEGNYSFYVLDNQNLQQLWDWDHRNLTIKAGKMYFAF
NPKLCVSEIYRMEEVTGTKGRQSKGDINTRNNGERASCESDVLHFTSTTTSKNRIIITWHRYRPPDYRDLISFTV
YYKEAPFKNVTEYDGQDACGSNSWNMVDVDLPPNKDVEPGILLHGLKPWTQYAVYVKAVTLTMVENDHIRGAKSE
ILYIRTNASVPSIPLDVLSASNSSSQLIVKWNPPSLPNGNLSYYIVRWQRQPQDGYLYRHNYCSKDKIPIRKYAD
GTIDIEEVTENPKTEVCGGEKGPCCACPKTEAEKQAEKEEAEYRKVFENFLHNSIFVPRPERKRRDVMQVANTTM
SSRSRNTTAADTYNITDPEELETEYPFFESRVDNKERTVISNLRPFTLYRIDIHSCNHEAEKLGCSASNFVFART
MPAEGADDIPGPVTWEPRPENSIFLKWPEPENPNGLILMYEIKYGSQVEDQRECVSRQEYRKYGGAKLNRLNPGN
YTARIQATSLSGNGSWTDPVFFYVQAKTGYENFIHLIIALPVAVLLIVGGLVIMLYVFHRKRNNSRLGNGVLYAS
VNPEYFSAADVYVPDEWEVAREKITMSRELGQGSFGMVYEGVAKGVVKDEPETRVAIKTVNEAASMRERIEFLNE
ASVMKEFNCHHVVRLLGVVSQGQPTLVIMELMTRGDLKSYLRSLRPEMENNPVLAPPSLSKMIQMAGEIADGMAY
LNANKFVHRDLAARNCMVAEDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMSPESLKDGVFTTYSDVWSFGV
VLWEIATLAEQPYQGLSNEQVLRFVMEGGLLDKPDNCPDMLFELMRMCWQYNPKMRPSFLEIISSIKEEMEPGFR
EVSFYYSEENKLPEPEELDLEPENMESVPLDPSASSSSLPLPDRHSGHKAENGPGPGVLVLRASFDERQPYAHMN
GGRKNERALPLPQSSTC
Structural information
Protein Domains
Fibronectin (491-609)
Fibronectin (610-708)
Fibronectin (735-828)
(834-927)

Motifs
IRS1- and(977-980)
Interpro:  IPR003961 IPR006211 IPR006212 IPR009030 IPR013783 IPR011009 IPR032675 IPR000719 IPR017441 IPR000494 IPR001245 IPR008266 IPR020635 IPR016246 IPR002011
Prosite:   PS50853 PS00107 PS50011 PS00109 PS00239

Pfam:  
PF00757 PF07714 PF01030
CDD:   cd00063

PDB:  
1IGR 1JQH 1K3A 1M7N 1P4O 2OJ9 2ZM3 3D94 3F5P 3I81 3LVP 3LW0 3NW5 3NW6 3NW7 3O23 3QQU 4D2R 4XSS 5FXQ 5FXR 5FXS 5HZN
PDBsum:   1IGR 1JQH 1K3A 1M7N 1P4O 2OJ9 2ZM3 3D94 3F5P 3I81 3LVP 3LW0 3NW5 3NW6 3NW7 3O23 3QQU 4D2R 4XSS 5FXQ 5FXR 5FXS 5HZN

DIP:  
476
MINT:   85902
STRING:   ENSP00000268035;
Other Databases GeneCards:  IGF1R;  Malacards:  IGF1R

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004713 protein tyrosine kinase a
ctivity
IDA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IMP molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IDA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
TAS molecular_function
GO:0005010 insulin-like growth facto
r-activated receptor acti
vity
IDA molecular_function
GO:0005158 insulin receptor binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005520 insulin-like growth facto
r binding
IDA molecular_function
GO:0005520 insulin-like growth facto
r binding
IDA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005886 plasma membrane
ISS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IC cellular_component
GO:0006955 immune response
IMP biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0008286 insulin receptor signalin
g pathway
TAS biological_process
GO:0014065 phosphatidylinositol 3-ki
nase signaling
IC biological_process
GO:0016020 membrane
IDA cellular_component
GO:0030335 positive regulation of ce
ll migration
IMP biological_process
GO:0031994 insulin-like growth facto
r I binding
IDA molecular_function
GO:0031994 insulin-like growth facto
r I binding
IPI molecular_function
GO:0035867 alphav-beta3 integrin-IGF
-1-IGF1R complex
IDA cellular_component
GO:0038083 peptidyl-tyrosine autopho
sphorylation
IMP biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0043548 phosphatidylinositol 3-ki
nase binding
IPI molecular_function
GO:0043559 insulin binding
IPI molecular_function
GO:0043560 insulin receptor substrat
e binding
IPI molecular_function
GO:0045740 positive regulation of DN
A replication
IMP biological_process
GO:0046328 regulation of JNK cascade
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0048009 insulin-like growth facto
r receptor signaling path
way
IDA biological_process
GO:0048015 phosphatidylinositol-medi
ated signaling
IDA biological_process
GO:0051262 protein tetramerization
IDA biological_process
GO:0051389 inactivation of MAPKK act
ivity
IDA biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IDA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IMP molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IDA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
TAS molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0005010 insulin-like growth facto
r-activated receptor acti
vity
TAS molecular_function
GO:0005010 insulin-like growth facto
r-activated receptor acti
vity
IDA molecular_function
GO:0005158 insulin receptor binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005520 insulin-like growth facto
r binding
IDA molecular_function
GO:0005520 insulin-like growth facto
r binding
IDA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005886 plasma membrane
ISS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IC cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006955 immune response
IMP biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0008286 insulin receptor signalin
g pathway
TAS biological_process
GO:0014065 phosphatidylinositol 3-ki
nase signaling
IC biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0030335 positive regulation of ce
ll migration
IMP biological_process
GO:0031994 insulin-like growth facto
r I binding
IDA molecular_function
GO:0031994 insulin-like growth facto
r I binding
IPI molecular_function
GO:0035867 alphav-beta3 integrin-IGF
-1-IGF1R complex
IDA cellular_component
GO:0038083 peptidyl-tyrosine autopho
sphorylation
IMP biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
TAS biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0043548 phosphatidylinositol 3-ki
nase binding
IEA molecular_function
GO:0043548 phosphatidylinositol 3-ki
nase binding
IPI molecular_function
GO:0043559 insulin binding
IPI molecular_function
GO:0043560 insulin receptor substrat
e binding
IEA molecular_function
GO:0043560 insulin receptor substrat
e binding
IPI molecular_function
GO:0045740 positive regulation of DN
A replication
IMP biological_process
GO:0046328 regulation of JNK cascade
IDA biological_process
GO:0046777 protein autophosphorylati
on
IEA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0048009 insulin-like growth facto
r receptor signaling path
way
IDA biological_process
GO:0048015 phosphatidylinositol-medi
ated signaling
IDA biological_process
GO:0051262 protein tetramerization
IDA biological_process
GO:0051389 inactivation of MAPKK act
ivity
IDA biological_process
GO:0004713 protein tyrosine kinase a
ctivity
IDA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IMP molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IDA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
TAS molecular_function
GO:0005010 insulin-like growth facto
r-activated receptor acti
vity
TAS molecular_function
GO:0005010 insulin-like growth facto
r-activated receptor acti
vity
IDA molecular_function
GO:0005158 insulin receptor binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005520 insulin-like growth facto
r binding
IDA molecular_function
GO:0005520 insulin-like growth facto
r binding
IDA molecular_function
GO:0005886 plasma membrane
ISS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IC cellular_component
GO:0006955 immune response
IMP biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0008286 insulin receptor signalin
g pathway
TAS biological_process
GO:0014065 phosphatidylinositol 3-ki
nase signaling
IC biological_process
GO:0016020 membrane
IDA cellular_component
GO:0030335 positive regulation of ce
ll migration
IMP biological_process
GO:0031994 insulin-like growth facto
r I binding
IDA molecular_function
GO:0031994 insulin-like growth facto
r I binding
IPI molecular_function
GO:0035867 alphav-beta3 integrin-IGF
-1-IGF1R complex
IDA cellular_component
GO:0038083 peptidyl-tyrosine autopho
sphorylation
IMP biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
TAS biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0043548 phosphatidylinositol 3-ki
nase binding
IPI molecular_function
GO:0043559 insulin binding
IPI molecular_function
GO:0043560 insulin receptor substrat
e binding
IPI molecular_function
GO:0045740 positive regulation of DN
A replication
IMP biological_process
GO:0046328 regulation of JNK cascade
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0048009 insulin-like growth facto
r receptor signaling path
way
IDA biological_process
GO:0048015 phosphatidylinositol-medi
ated signaling
IDA biological_process
GO:0051262 protein tetramerization
IDA biological_process
GO:0051389 inactivation of MAPKK act
ivity
IDA biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa05205  Proteoglycans in cancer
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa04510  Focal adhesion
hsa05224  Breast cancer
hsa04068  FoxO signaling pathway
hsa05202  Transcriptional misregulation in cancer
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04144  Endocytosis
hsa05215  Prostate cancer
hsa01522  Endocrine resistance
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04066  HIF-1 signaling pathway
hsa05218  Melanoma
hsa04152  AMPK signaling pathway
hsa04150  mTOR signaling pathway
hsa04211  Longevity regulating pathway
hsa04520  Adherens junction
hsa04140  Autophagy - animal
hsa04913  Ovarian steroidogenesis
hsa04914  Progesterone-mediated oocyte maturation
hsa04213  Longevity regulating pathway
hsa05214  Glioma
hsa04114  Oocyte meiosis
hsa04730  Long-term depression

Diseases

Associated diseases References
Adenomyosis PMID: 9476071
Alzheimer's disease PMID: 16983186
Asthenozoospermia PMID: 26626315
Brain ischemia PMID: 18477064
Cancer PMID: 19950226
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Diabetes PMID: 15127203
Embryo implantation PMID: 12596304
Endometriosis PMID: 9049281
Growth disorder KEGG: H01274, OMIM: 147370
Human sperm capacitation PMID: 15820831
Hyperandrogenism PMID: 9302393
Diminished ovarian reserve (DOR) PMID: 21846690
Malignant pleural mesothelioma KEGG: H00015
Polycystic ovary syndrome (PCOS) PMID: 22951915
Endometriosis INFBASE9049281
Schizophrenia PMID: 17044098
Spinal diseases PMID: 18469701
Synovial sarcoma KEGG: H00050
Unexplained infertility PMID: 15130350

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
9049281 Endometrio
sis

18 infertile pa
tients for the
problem of infe
rtility
IGF-I
IGF-IR
Show abstract