Property Summary

NCBI Gene PubMed Count 31
PubMed Score 57.46
PubTator Score 44.07

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma -3.700 5.8e-08
astrocytoma -1.500 1.5e-02
posterior fossa group A ependymoma -3.100 1.9e-22
glioblastoma -2.200 3.2e-04
group 4 medulloblastoma -2.700 1.1e-08
atypical teratoid/rhabdoid tumor -2.200 3.4e-10
medulloblastoma, large-cell -2.400 4.1e-04
primitive neuroectodermal tumor -1.900 1.4e-03
adult high grade glioma -2.400 8.8e-07
ovarian cancer -1.900 9.7e-09
psoriasis -1.200 4.5e-10

Gene RIF (19)

PMID Text
25864829 It was indicated that a defect in IL1RAPL1 that controls excitatory synapsis formation results in the excitation-inhibition balance affecting various cerebral functions.
25305082 Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
21926414 The interaction of the IL1RAPL1 family of proteins with PTPdelta and RhoGAP2 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling.
21491612 The IL1RAPL1 gene is of interest as a candidate gene for autism spectrum disorder as mutations or deletions in the gene have previously been reported in individuals from families with ASD.
21271657 Intragenic deletions in IL1RAPL1are relevant to the pathogenesis of X-linked mental retardation.
20673868 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20479760 Observational study of gene-disease association. (HuGE Navigator)
20452482 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19736351 Observational study of gene-disease association. (HuGE Navigator)
19012350 IL1RAPL1 plays an important role in the etiology of X-linked mental retardation.
18801879 The function of truncated IL1RAPL1 protein in an autistic female with Asperger syndrome is severely altered in hippocampal neurons, demonstrated by its effect on neurite outgrowth activity.
18467032 Combined data suggested that IL1RAPL1 affected human cognitive ability to some extent, especially the memory and concentration capability.
18467032 Observational study of gene-disease association. (HuGE Navigator)
18253029 DMD gene and its immediately distal neighbor, the 1.8 Mb IL1RAPL1 gene are abundantly expressed in normal brain but were dramatically underexpressed in every brain tumor cell line and xenograft.
16470793 Report confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation in males.
15300857 Nearly all patients with deletions involving DAX1, but not DMD, had mental retardation if IL1RAPL1 was deleted. If ILIRAPLI & DMD were intact, the patients with DAX1 deletions only rarely had normal development.
15123616 crystal structure at 2.3-A resolution of the TIR domain of IL-1RAPL

AA Sequence

MKAPIPHLILLYATFTQSLKVVTKRGSADGCTDWSIDIKKYQVLVGEPVRIKCALFYGYIRTNYSLAQSA      1 - 70
GLSLMWYKSSGPGDFEEPIAFDGSRMSKEEDSIWFRPTLLQDSGLYACVIRNSTYCMKVSISLTVGENDT     71 - 140
GLCYNSKMKYFEKAELSKSKEISCRDIEDFLLPTREPEILWYKECRTKTWRPSIVFKRDTLLIREVREDD    141 - 210
IGNYTCELKYGGFVVRRTTELTVTAPLTDKPPKLLYPMESKLTIQETQLGDSANLTCRAFFGYSGDVSPL    211 - 280
IYWMKGEKFIEDLDENRVWESDIRILKEHLGEQEVSISLIVDSVEEGDLGNYSCYVENGNGRRHASVLLH    281 - 350
KRELMYTVELAGGLGAILLLLVCLVTIYKCYKIEIMLFYRNHFGAEELDGDNKDYDAYLSYTKVDPDQWN    351 - 420
QETGEEERFALEILPDMLEKHYGYKLFIPDRDLIPTGTYIEDVARCVDQSKRLIIVMTPNYVVRRGWSIF    421 - 490
ELETRLRNMLVTGEIKVILIECSELRGIMNYQEVEALKHTIKLLTVIKWHGPKCNKLNSKFWKRLQYEMP    491 - 560
FKRIEPITHEQALDVSEQGPFGELQTVSAISMAAATSTALATAHPDLRSTFHNTYHSQMRQKHYYRSYEY    561 - 630
DVPPTGTLPLTSIGNQHTYCNIPMTLINGQRPQTKSSREQNPDEAHTNSAILPLLPRETSISSVIW        631 - 696
//

Text Mined References (33)

PMID Year Title
25864829 2015 [Phenotypic analysis of IL1RAPL1 knockout mice].
25305082 2015 Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
21940441 2011 IL-1 receptor accessory protein-like 1 associated with mental retardation and autism mediates synapse formation by trans-synaptic interaction with protein tyrosine phosphatase ?.
21926414 2011 The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTP? and RhoGAP2.
21491612 2011 No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set.
21271657 2011 Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.
20838585 2010 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
20673868 2010 A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20479760 2011 Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
20452482 2010 Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19736351 2009 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
19012350 2008 Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
18801879 2008 Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
18467032 2008 A study on the correlation between IL1RAPL1 and human cognitive ability.
18253029 2007 DMD and IL1RAPL1: two large adjacent genes localized within a common fragile site (FRAXC) have reduced expression in cultured brain tumors.
16470793 2006 A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15300857 2004 IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
15123616 2004 Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL.
12783849 2003 IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis.
12777533 2003 Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10882729 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.
10757639 2000 Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
10471494 1999 A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
8964912 1996 Rat homolog of mouse interleukin-1 receptor accessory protein: cloning, localization and modulation studies.
8826442 1996 Seventh International Workshop on the Fragile X and X-linked Mental Retardation.
8230164 1993 Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.
1605216 1992 Nomenclature guidelines for X-linked mental retardation.