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Gene Symbol |
IL1RN |
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Aliases |
DIRA, ICIL-1RA, IL-1RN, IL-1ra, IL-1ra3, IL1F3, IL1RA, IRAP, MVCD4 |
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Entrez Gene ID |
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Gene Name |
Interleukin 1 receptor antagonist |
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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 protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jan 2016]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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SNPs
| SNP Id |
Upstream Sequence |
SNP |
Downstream Sequence |
Functional Significance |
References |
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allele II in intron 2 |
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28405733 | |
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| Protein Information |
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Protein Name |
Interleukin-1 receptor antagonist protein, IL1 inhibitor, intracellular IL-1 receptor antagonist type II, intracellular interleukin-1 receptor antagonist (icIL-1ra), type II interleukin-1 receptor antagonist |
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Function |
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Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure. |
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UniProt |
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PDB |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000265023 |
P01042 |
P01042 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Cardiovascular Diseases |
| Myocardial Infarction |
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| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| OMPP |
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| Digestive System Diseases |
| Liver Failure |
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| Endocrine System Diseases |
| PCOS |
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| Immune System Diseases |
| Rheumatoid Arthritis |
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| Juvenile arthritis |
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| Schnitzler Syndrome |
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| Still Disease |
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| Musculoskeletal Diseases |
| Myositis |
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| Gout |
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| Myopathy |
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| Neoplasms |
| Prostate cancer |
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| Multiple Sclerosis |
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| Colonic Neoplasms |
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| Vulvar Cancer |
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| Nervous System Diseases |
| Status Epilepticus |
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| Stroke |
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| Cerebral Ischemia |
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| Arsenic Encephalopathy |
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| Petit mal status |
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| Psychiatric/Brain disorders |
| Autistic Disorder |
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| Learning Disorders |
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| Bipolar Disorder |
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| Delirium |
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| Dysthymic Disorder |
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| Mood Disorders |
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| Psychosis |
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| Reproductive disorders |
| Preeclampsia |
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| Respiratory Tract Diseases |
| Bronchial hyperreactivity |
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| Anthracosis |
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| Asthma |
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| Pulmonary Fibrosis |
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| Skin and Connective Tissue Diseases |
| Dermatitis |
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References |
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| Rashid Nadia, Nigam Aruna, Saxena Pikee, Jain S K, Wajid Saima |
| Department of Biotechnology, School of Chemical and Life Sciences, Jamia Hamdard (Hamdard University), New Delhi, 110062, India.| Department of Gynaecology and Obstetrics, Hamdard Institute of Medical Sciences and Research, Jamia Hamdard (Hamdard University), New Delhi, 110062, India.| Department of Obstetrics and Gynaecology, Lady Hardinge Medical College and SSK Hospital, New Delhi, 110001, India.| Department of Biochemistry, Hamdard Institute of Medical Sciences and Research, Jamia Hamdard (Hamdard University), New Delhi, 110062, India.| Department of Biotechnology, School of Chemical and Life Sciences, Jamia Hamdard (Hamdard University), New Delhi, 110062, India. swajid@jamiahamdard.ac.in. |
| Inflamm Res. 2017 Jul;66(7):621-636. doi: 10.1007/s00011-017-1045-3. Epub 2017 |
Abstract
BACKGROUND: Polycystic ovary syndrome (PCOS), a highly prevalent endocrinopathy is currently being designated as chronic low grade inflammatory state. IL-1beta, IL-1Ra and FABP1 are critical mediators of inflammatory processes and are speculated to play a role in the pathogenesis of PCOS. The aim of this study was to study the association of IL-beta, IL-1Ra and FABP1 gene polymorphisms with PCOS and related metabolic features. SUBJECTS: 95 PCOS and 45 age matched healthy control subjects were enrolled in this study. METHODS: Polymorphism in genes IL-1beta, IL-1Ra and FABP1 was studied by PCR, PCR-RFLP and sequencing methods, respectively. Hormonal and lipid profiles were evaluated for all the subjects. RESULTS: Hormonal and lipid profiles showed significant differences between PCOS and control subjects. Allele and genotype frequencies of IL-1beta, IL-1Ra and FABP1 gene polymorphisms did not vary between the control and PCOS group. However, T allele of C[-511]T variant of IL-1beta, allele II in intron 2 of IL-1Ra and A allele of A/G variant of FABP1 (rs2197076) showed significant association with many metabolic features associated with PCOS. CONCLUSIONS: Polymorphism in genes encoding cytokines and proteins involved in lipid metabolism can provide insights into the genetics of the disease and may contribute to assess the associated risk of cardiovascular diseases (CVD), dyslipidemia and metabolic syndrome (MetS) associated with PCOS. |
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