Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3484
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol IGFBP1   Gene   UCSC   Ensembl
Aliases AFBP, IBP1, IGF-BP25, PP12, hIGFBP-1
Gene name insulin like growth factor binding protein 1
Alternate names insulin-like growth factor-binding protein 1, IBP-1, IGF-binding protein 1, IGFBP-1, alpha-pregnancy-associated endometrial globulin, amniotic fluid binding protein, binding protein-25, binding protein-26, binding protein-28, growth hormone independent-binding pro,
Gene location 7p12.3 (45888359: 45893667)     Exons: 4     NC_000007.14
Gene summary(Entrez) This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
OMIM 146730

SNPs

 rs1065780

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000669.2   g.45888078G>A
NC_000007.13   g.45927677G>A
NC_000007.14   g.45888078G>A
NM_000596.2   c.-575G>A
NM_000596.3   c.-575G>A

Protein Summary
Protein general information P08833  

Name: Insulin like growth factor binding protein 1 (IBP 1) (IGF binding protein 1) (IGFBP 1) (Placental protein 12) (PP12)

Length: 259  Mass: 27,904

Sequence MSEVPVARVWLVLLLLTVQVGVTAGAPWQCAPCSAEKLALCPPVSASCSEVTRSAGCGCCPMCALPLGAACGVAT
ARCARGLSCRALPGEQQPLHALTRGQGACVQESDASAPHAAEAGSPESPESTEITEEELLDNFHLMAPSEEDHSI
LWDAISTYDGSKALHVTNIKKWKEPCRIELYRVVESLAKAQETSGEEISKFYLPNCNKNGFYHSRQCETSMDGEA
GLCWCVYPWNGKRIPGSPEIRGDPNCQIYFNVQN
Structural information
Protein Domains
 IGFBP (26-107)
Thyroglobulin (173-251)

Motifs
 Cell attachment(246-248)
Interpro:  IPR009030 IPR000867 IPR022322 IPR009168 IPR022321 IPR017891 IPR000716
Prosite:   PS00222 PS51323 PS00484 PS51162

Pfam:  		 PF00219 PF00086

PDB:  		 1ZT3 1ZT5 2DSQ
PDBsum:   1ZT3 1ZT5 2DSQ

DIP:  		 59846
STRING:   ENSP00000275525;
Other Databases GeneCards:  IGFBP1;  Malacards:  IGFBP1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005102 receptor binding
 TAS molecular_function
GO:0005520 insulin-like growth facto
r binding
 TAS molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0007165 signal transduction
 TAS biological_process
GO:0008286 insulin receptor signalin
g pathway
 IEA biological_process
GO:0030307 positive regulation of ce
ll growth
 IEA biological_process
GO:0031994 insulin-like growth facto
r I binding
 IDA molecular_function
GO:0031995 insulin-like growth facto
r II binding
 IDA molecular_function
GO:0036499 PERK-mediated unfolded pr
otein response
 TAS biological_process
GO:0042246 tissue regeneration
 IEA biological_process
GO:0043567 regulation of insulin-lik
e growth factor receptor
signaling pathway
 IBA biological_process
GO:0044267 cellular protein metaboli
c process
 TAS biological_process
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
 TAS biological_process
GO:0001558 regulation of cell growth
 IEA biological_process
GO:0005102 receptor binding
 TAS molecular_function
GO:0005520 insulin-like growth facto
r binding
 IEA molecular_function
GO:0005520 insulin-like growth facto
r binding
 IEA molecular_function
GO:0005520 insulin-like growth facto
r binding
 TAS molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0007165 signal transduction
 TAS biological_process
GO:0008286 insulin receptor signalin
g pathway
 IEA biological_process
GO:0019838 growth factor binding
 IEA molecular_function
GO:0030307 positive regulation of ce
ll growth
 IEA biological_process
GO:0031994 insulin-like growth facto
r I binding
 IDA molecular_function
GO:0031995 insulin-like growth facto
r II binding
 IDA molecular_function
GO:0036499 PERK-mediated unfolded pr
otein response
 TAS biological_process
GO:0042246 tissue regeneration
 IEA biological_process
GO:0043567 regulation of insulin-lik
e growth factor receptor
signaling pathway
 IBA biological_process
GO:0044267 cellular protein metaboli
c process
 TAS biological_process
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
 TAS biological_process
GO:0005102 receptor binding
 TAS molecular_function
GO:0005520 insulin-like growth facto
r binding
 TAS molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0007165 signal transduction
 TAS biological_process
GO:0031994 insulin-like growth facto
r I binding
 IDA molecular_function
GO:0031995 insulin-like growth facto
r II binding
 IDA molecular_function
GO:0036499 PERK-mediated unfolded pr
otein response
 TAS biological_process
GO:0043567 regulation of insulin-lik
e growth factor receptor
signaling pathway
 IBA biological_process
GO:0044267 cellular protein metaboli
c process
 TAS biological_process
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
 TAS biological_process

KEGG pathways

PTHR11551:SF6  PI3 kinase pathway

Diseases

Associated diseases References
Alzheimer's disease PMID: 19141999
Cancer PMID: 17035411
Chronic endometritis PMID: 23351011
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Diabetes PMID: 18828733
Diabetic nephropathy PMID: 16306374
Endometriosis PMID: 19200988
Hyperandrogenism PMID: 12632745
Metabolic syndrome PMID: 19158202
Oocyte maturation PMID: 9359637
Ovarian endometriosis PMID: 16500320
Peritoneal endometriosis PMID: 16500320
Polycystic ovary syndrome (PCOS) PMID: 10561001
Peritoneal, ovarian, and deeply infiltrating endometriosis INFBASE16500320
Female infertility INFBASE12571183
Endometriosis INFBASE12571183

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19200988 Endometrio
sis
28 (17 patients
in whom endome
triosis, 11 hea
lthy fertile wo
men)
 IGFBP1
 Show abstract
12571183 Endometrio
sis
41 (12 minimal/
mild endometrio
sis, 10 moderat
e/severe endome
triosis, 19 tub
al obstruction)
 Female infertility IGF-1
IGFBP-1 and IGFBP-3
 Show abstract
16500320 Endometrio
sis (Perit
oneal and
ovarian)
71 (18 peritone
al endometrioti
c lesions, 29 o
varian endometr
iotic lesions,
14 deeply infil
trating endomet
riotic lesions,
5 women with e
ndometriosis, 5
women without
endometriosis)
 CD10
IGFBP-1
PR
 Show abstract