Gene: IL1RAPL1

Alternate names for this Gene: IL-1-RAPL-1|IL-1RAPL-1|IL1R8|IL1RAPL|IL1RAPL-1|MRX10|MRX21|MRX34|OPHN4|TIGIRR-2

Gene Summary: The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization.

Gene is located in Chromosome: X

Location in Chromosome : Xp21.3-p21.2

Description of this Gene: interleukin 1 receptor accessory protein like 1

Type of Gene: protein-coding

rs4829242 in IL1RAPL1 gene and Bronchopulmonary Dysplasia PMID 21836138 2011 Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia.

rs7890572 in IL1RAPL1 gene and Cardiovascular Diseases PMID 20838585 2010 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.

rs196974 in IL1RAPL1 gene and Circadian Rhythms PMID 26835600 2016 GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person.

rs7890572 in IL1RAPL1 gene and High density lipoprotein measurement PMID 20838585 2010 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.

rs7890572 in IL1RAPL1 gene and Low density lipoprotein cholesterol measurement PMID 20838585 2010 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.

rs7890572 in IL1RAPL1 gene and Pseudocholinesterase Measurement PMID 20838585 2010 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.

rs7890572 in IL1RAPL1 gene and Triglycerides measurement PMID 20838585 2010 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.

rs73456411 in IL1RAPL1 gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

rs7890572 in IL1RAPL1 gene and Waist Circumference PMID 20838585 2010 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.