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; 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
View/Edit Human View/Edit Mouse

X-linked interleukin-1 receptor accessory protein-like 1, also known as IL-1R8, 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]

Function

The protein encoded by this gene, IL-1R8, 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 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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000169306 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000052372 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J (Sep 1999). "A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation". Nat Genet. 23 (1): 25–31. doi:10.1038/12623. PMID   10471494. S2CID   38236297.
6. Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG (May 2000). "Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation". Eur J Hum Genet. 8 (2): 87–94. doi:10.1038/sj.ejhg.5200415. PMID   10757639. S2CID   22262168.
7. "Entrez Gene: IL1RAPL1 interleukin 1 receptor accessory protein-like 1".
8. "OMIM Entry - * 300206 - INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1". www.omim.org. Retrieved 2020-12-05.

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.