IL1B

Gene Information
 
Gene Symbol
IL1B
 
Aliases
IL-1, IL1-BETA, IL1F2
 
Entrez Gene ID
 
Gene Name
Interleukin 1, beta
 
Chromosomal Location
2q14
 
HGNC ID
 
Summary
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. (provided by RefSeq, Jul 2008)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0000187 Biological process Activation of MAPK activity IDA 10748004
GO:0001934 Biological process Positive regulation of protein phosphorylation NAS 16477012
GO:0002711 Biological process Positive regulation of T cell mediated immunity IC 1919436
GO:0006915 Biological process Apoptotic process TAS 9218611
GO:0006954 Biological process Inflammatory response NAS 1919436
Protein Information
 
Protein Name
Interleukin-1 beta
 
Function
Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00340 IL1 Interleukin-1 / 18
PF02394 IL1_propep Interleukin-1 propeptide
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Obesity 22455686
Polycystic ovary syndrome (PCOS) 20963558, 19909950, 16943580
   
References
 
Primary:

Interleukin 1 beta (IL-1beta) promoter C [-511] T polymorphism but not C [+3953] T polymorphism is associated with polycystic ovary syndrome.

Mu Yuan, Liu Jingjing, Wang Binbin, Wen Qiaolian, Wang Jing, Yan Jinting, Zhou Sirui, Ma Xu, Cao Yunxia
Graduate School, Peking Union Medical College, Beijing, China.
Endocrine. 2010 Feb;37(1):71-5. doi: 10.1007/s12020-009-9268-x. Epub 2009 Nov 10.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
Polymorphisms of the IL-1 gene (promoter C [-511] T) 
 
Related 
Chinese- 200 PCOS and 177 controls 
 No association between genotype and relative allele frequencies was observed for the C [+3953] T polymorphism for Chinese women with PCOS when compared to that for a similar group of Chinese women without PCOS (P = 0.35). 
IL-1ra 
Obesity 
T allele of IL-1 gene promoter region (-511) 
 
Related 
 
Inflammatory factors IL-1 and IL-1ra had correlation with obesity of PCOS patients, PCOS patients who carried T allele of IL-1 gene promoter region (-511) and V allele of IL-1ra gene were high risk of obesity. 
 
PCOS 
IL-1beta (-511C > T, exon-5C.>T) 
Rotterdam criteria 
Related 
118 PCOS, 86 controls 
The carriage of allele V of IL-1RN and allele E1 of exon-5 on the IL-1beta gene may increase the risk of PCOS 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25089371
Roles of circulating WNT-signaling proteins and WNT-inhibitors in human adiposity, insulin resistance, insulin secretion, and inflammation. 
In vitro 
24576416, PMC4020957
Glucose and lipopolysaccharide regulate proatherogenic cytokine release from mononuclear cells in polycystic ovary syndrome. 
In vitro 
23900753
Differential expression of inflammation-related genes in the ovarian stroma and granulosa cells of PCOS women. 
In vitro 

 

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