IL1RAPL1

X-linked interleukin-1 receptor accessory protein-like 1, also known as IL-1R9, is a protein that in humans is encoded by the IL1RAPL1 gene.^[5][6][7] IL1RAPL1 is composed of 11 exons, about 1.37 Mb total.^[8]

IL1RAPL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T3G, 4M92
Identifiers
Aliases	IL1RAPL1, IL1R8, IL1RAPL, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2, interleukin 1 receptor accessory protein like 1, IL-1RAPL-1, IL-1-RAPL-1, IL1RAPL-1
External IDs	OMIM: 300206; MGI: 2687319; HomoloGene: 8609; GeneCards: IL1RAPL1; OMA:IL1RAPL1 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp21.3-p21.2 Start 28,587,446 bp[1] End 29,956,718 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X C1 Start 85,784,476 bp[2] End 87,159,251 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell endothelial cell corpus callosum middle temporal gyrus secondary oocyte dorsal motor nucleus of vagus nerve inferior olivary nucleus Brodmann area 23 entorhinal cortex postcentral gyrus Top expressed in piriform cortex dentate gyrus of hippocampal formation granule cell superior frontal gyrus temporal lobe primary visual cortex prefrontal cortex lumbar subsegment of spinal cord Rostral migratory stream dorsal striatum facial motor nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function voltage-gated calcium channel activity signaling receptor binding protein binding interleukin-1 binding Cellular component cytoplasm integral component of membrane cell surface axon postsynaptic membrane dendrite cell projection membrane plasma membrane glutamatergic synapse Biological process negative regulation of exocytosis heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules positive regulation of dendrite morphogenesis regulation of neuron projection development neuron differentiation signal transduction presynaptic membrane assembly calcium ion transmembrane transport positive regulation of synapse assembly cellular response to cytokine stimulus regulation of postsynapse organization trans-synaptic signaling by trans-synaptic complex regulation of presynapse assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11141 331461 Ensembl ENSG00000169306 ENSMUSG00000052372 UniProt Q9NZN1 P59823 RefSeq (mRNA) NM_014271 NM_001160403 RefSeq (protein) NP_055086 n/a Location (UCSC) Chr X: 28.59 – 29.96 Mb Chr X: 85.78 – 87.16 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene, IL-1R9, is a member of the interleukin-1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). ^[7]

Clinical significance

This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. 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.^[7]