Interleukin 1 Receptor Accessory Protein Like Protein 1 (IL1RAPL1)

IL1R8; IL1RAPL; MRX21; MRX34; OPHN4; TIGIRR-2; Mental Retardation,X-Linked 34; Oligophrenin-4; Three immunoglobulin domain-containing IL-1 receptor-related 2

SPN	O926
HGNC	5996
MGI	2687319
PubMed	23785489
RGD	727891
UniProt	Q9NZN1
Wiki	IL1RAPL1

IL1RAPL1 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.This gene encodes a 696-amino acid protein that has homology to interleukin-1 receptor accessory proteins (IL1RAP).

Reference

"A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation."
Nat. Genet. 23:25-31(1999) [PubMed] [Europe PMC] [Abstract]

"Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.3-Xp21.3 mental retardation."
Eur. J. Hum. Genet. 8:87-94(2000) [PubMed] [Europe PMC] [Abstract]

"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. 275:29946-29954(2000) [PubMed] [Europe PMC] [Abstract]

"Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees."
Mol. Biol. Evol. 20:1281-1289(2003) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"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. 12:1415-1425(2003) [PubMed] [Europe PMC] [Abstract]

"A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family."
Am. J. Med. Genet. A 140:482-487(2006) [PubMed] [Europe PMC] [Abstract]

"Mutations in the calcium-related gene IL1RAPL1 are associated with autism."
Hum. Mol. Genet. 17:3965-3974(2008) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL."
J. Biol. Chem. 279:31664-31670(2004) [PubMed] [Europe PMC] [Abstract]