IL1RAPL1 (interleukin 1 receptor accessory protein like 1)

2008-03-01  

Identity

HGNC
LOCATION
Xp21.3
LOCUSID
ALIAS
IL-1-RAPL-1,IL-1RAPL-1,IL1R8,IL1RAPL,IL1RAPL-1,MRX10,MRX21,MRX34,OPHN4,TIGIRR-2
FUSION GENES

Other Information

Locus ID:

NCBI: 11141
MIM: 300206
HGNC: 5996
Ensembl: ENSG00000169306

Variants:

dbSNP: 11141
ClinVar: 11141
TCGA: ENSG00000169306
COSMIC: IL1RAPL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169306ENST00000302196A0A0A0MR17
ENSG00000169306ENST00000378993Q9NZN1
ENSG00000169306ENST00000378993X5DNQ7

Expression (GTEx)

0
1
2
3

References

Pubmed IDYearTitleCitations
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
204797602011Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.100
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188018792008Mutations in the calcium-related gene IL1RAPL1 are associated with autism.68
290722922017IL-1R8 is a checkpoint in NK cells regulating anti-tumour and anti-viral activity.56
151236162004Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL.51
219264142011The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2.41
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
204524822010Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.26
190123502008Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.14

Citation

Dessen P

IL1RAPL1 (interleukin 1 receptor accessory protein like 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-03-01

Online version: http://atlasgeneticsoncology.org/gene/50038/il1rapl1