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Gene Symbol |
IL1A |
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Aliases |
IL-1 alpha, IL-1A, IL1, IL1-ALPHA, IL1F1 |
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Entrez Gene ID |
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Gene Name |
Interleukin 1 alpha |
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Chromosomal Location |
2q14.1 |
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HGNC ID |
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Summary |
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Interleukin-1 alpha, hematopoietin-1, preinterleukin 1 alpha, pro-interleukin-1-alpha |
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Function |
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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 |
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UniProt |
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PDB |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000243786 |
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P05111 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Cardiovascular Diseases |
| Myocardial Diseases |
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| Cardiomyopathy |
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| Myocardial Ischemia |
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| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Infection of amniotic cavity |
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| Funisitis |
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| Digestive System Diseases |
| Liver Diseases |
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| Non-alcoholic Fatty Liver Disease |
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| Hepatitis |
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| Ear Or Mastoid Diseases |
| Meniere Disease |
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| Endocrine System Diseases |
| PCOS |
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| Immune System Diseases |
| HIV Wasting Syndrome |
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| Dermatitis |
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| Musculoskeletal Diseases |
| Kearns-Sayre syndrome |
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| Polymyositis |
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| Neoplasms |
| Chondrosarcoma |
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| Skin Cancer |
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| Head Neoplasms |
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| Lung Cancer |
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| Vulvar Cancer |
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| Nervous System Diseases |
| Luft Disease |
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| Arsenic Encephalopathy |
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| Myopathy |
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| MERRF Syndrome |
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| MELAS Syndrome |
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| Cerebral Ischemia |
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| Leber optic atrophy |
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| Nutritional and Metabolic Diseases |
| Kearns-Sayre syndrome |
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| Psychiatric/Brain disorders |
| Mental Depression |
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| Schizophrenia |
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| Amnesia |
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| Obstructive Sleep Apnea |
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| Renal Disorder |
| Hemolytic-Uremic Syndrome |
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| Reproductive disorders |
| Preeclampsia |
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| Respiratory Tract Diseases |
| Anthracosis |
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| Skin and Connective Tissue Diseases |
| Dermatomyositis |
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| Dermatitis |
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References |
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| Kolbus Andrea, Walch Katharina, Nagele Friedrich, Wenzl Rene, Unfried Gertrud, Huber Johannes C |
| Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria. Electronic address: andrea.kolbus@meduniwien.ac.at.| Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.| Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.| Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.| Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.| Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria. |
| J Reprod Immunol. 2007 Apr;73(2):188-193. doi: 10.1016/j.jri.2006.08.002. Epub |
Abstract
Interleukin-1 (IL1) is a multifunctional cytokine and IL1-mediated inflammatory processes have been proposed to influence the processes of ovulation, fertilization and implantation. All these parameters are also affected in women with polycystic ovary syndrome (PCOS). This study investigated the association of common polymorphisms of the interleukin-1 genes (IL1A and IL1B) with the occurrence and clinical characteristics of PCOS. We evaluated one polymorphism of the IL1alpha gene (IL1A C[-889]T) and two of the IL1beta gene (IL1B promoter C[-511]T and IL1B exon 5 position +3953) in 105 Caucasian women with PCOS and 102 healthy Caucasian controls by polymerase chain reaction. For the mutated IL1A allele, allele frequencies in women with PCOS and controls were 60% and 46%, respectively, versus 40% and 54%, respectively, for the wild type allele. Allele frequencies in women with PCOS and controls were 59% (54%) and 61% (41%), respectively, for the mutated IL1B promoter (mutated IL1B exon 5) and 41% (46%) and 39% (59%), respectively, for the wild type alleles. Presence of a polymorphism in the interleukin-1alpha but not the interleukin-1beta gene was found to correlate with the occurrence of PCOS (p=0.04; odds ratio 1.8). The serum level of FSH and subsequent LH/FSH ratio correlated with the polymorphism of IL1A within the PCOS group (p=0.005 and 0.01, respectively). We have shown that a common polymorphism of the interleukin-1alpha but not interleukin-1beta gene is associated with the presence of PCOS and with clinical parameters of women affected by this condition. |
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