Property Summary

NCBI Gene PubMed Count 31
Grant Count 1
Funding $41,066.29
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 0.000
astrocytoma -1.500 0.015
posterior fossa group A ependymoma -3.100 0.000
glioblastoma -2.200 0.000
group 4 medulloblastoma -2.700 0.000
atypical teratoid/rhabdoid tumor -2.200 0.000
medulloblastoma, large-cell -2.400 0.000
primitive neuroectodermal tumor -1.900 0.001
adult high grade glioma -2.400 0.000
ovarian cancer -1.900 0.000
psoriasis -1.200 0.000

Synonym

Accession Q9NZN1 A0AVG4 Q9UJ53 IL-1-RAPL-1
Symbols IL1R8
MRX10
MRX21
MRX34
OPHN4
IL1RAPL
TIGIRR-2

Gene

 Grant Application (1)

PDB

4M92   1T3G  

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)
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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.
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