IL1RAPL1

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
Gene location (Human) Chr. X chromosome (human) Band Xp21.3-p21.2 Start 28,587,446 bp End 29,956,718 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X C1 Start 85,784,476 bp End 87,159,251 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell corpus callosum middle temporal gyrus secondary oocyte inferior olivary nucleus Brodmann area 23 entorhinal cortex postcentral gyrus Brodmann area 46 inferior ganglion of vagus nerve Top expressed in piriform cortex superior frontal gyrus temporal lobe prefrontal cortex facial motor nucleus hippocampus proper nucleus accumbens amygdala olfactory tubercle mammillary body 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
Wikidata
View/Edit Human View/Edit Mouse

X-linked interleukin-1 receptor accessory protein-like 1 is a protein that in humans is encoded by the IL1RAPL1 gene. IL1RAPL1 is composed of 11 exons, about 1.37 Mb total.

Function

The protein encoded by this gene 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).

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.

Further reading

• Kozák L, Chiurazzi P, Genuardi M, et al. (1993). "Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3". J. Med. Genet. 30 (10): 866–9. doi:10.1136/jmg.30.10.866. PMC 1016571. PMID 8230164.
• Tranebjaerg L, Lubs HA, Borghgraef M, et al. (1996). "Seventh International Workshop on the Fragile X and X-linked Mental Retardation". Am. J. Med. Genet. 64 (1): 1–14. doi:10.1002/(SICI)1096-8628(19960712)64:1<1::AID-AJMG1>3.0.CO;2-Z. PMID 8826442.
• Liu C, Chalmers D, Maki R, De Souza EB (1996). "Rat homolog of mouse interleukin-1 receptor accessory protein: cloning, localization and modulation studies". J. Neuroimmunol. 66 (1–2): 41–8. doi:10.1016/0165-5728(96)00016-1. PMID 8964912. S2CID 3797569.
• Born TL, Smith DE, Garka KE, et al. (2000). "Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling". J. Biol. Chem. 275 (39): 29946–54. doi:10.1074/jbc.M004077200. PMID 10882729.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol. 20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID 12777533.
• Bahi N, Friocourt G, Carrié A, et al. (2004). "IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis". Hum. Mol. Genet. 12 (12): 1415–25. doi:10.1093/hmg/ddg147. PMID 12783849.
• Khan JA, Brint EK, O'Neill LA, Tong L (2004). "Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL". J. Biol. Chem. 279 (30): 31664–70. doi:10.1074/jbc.M403434200. PMID 15123616.
• Zhang YH, Huang BL, Niakan KK, et al. (2005). "IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1". Hum. Mutat. 24 (3): 273. doi:10.1002/humu.9269. PMID 15300857. S2CID 7885220.
• Tabolacci E, Pomponi MG, Pietrobono R, et al. (2006). "A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family". Am. J. Med. Genet. A. 140 (5): 482–7. doi:10.1002/ajmg.a.31107. PMID 16470793. S2CID 23607874.