IL1RAPL1
Interleukin 1 receptor accessory protein-like 1 | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDB rendering based on 1t3g. | |||||||||||||
| |||||||||||||
Identifiers | |||||||||||||
Symbols | IL1RAPL1 ; IL1R8; IL1RAPL; MRX21; MRX34; OPHN4; TIGIRR-2 | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 8609 | ||||||||||||
| |||||||||||||
Orthologs | |||||||||||||
Template:GNF Ortholog box | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | n/a | n/a | |||||||||||
Ensembl | n/a | n/a | |||||||||||
UniProt | n/a | n/a | |||||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||||
RefSeq (protein) | n/a | n/a | |||||||||||
Location (UCSC) | n/a | n/a | |||||||||||
PubMed search | n/a | n/a |
Interleukin 1 receptor accessory protein-like 1, also known as IL1RAPL1, is a human gene.[1]
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). 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.[1]
References
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. 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. PMID 8964912.
- Carrié A, Jun L, Bienvenu T; et al. (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.
- Jin H, Gardner RJ, Viswesvaraiah R; et al. (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.
- 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. 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. doi:10.1073/pnas.242603899. 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. 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.
- 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.
This protein-related article is a stub. You can help Wikipedia by expanding it. |