AutismKB

Annotation Detail for IL1RAPL1


View Evidences View Annotations
Basic Information Top
Gene Symbol:IL1RAPL1 ( IL1R8,IL1RAPL,MRX10,MRX21,MRX34,OPHN4,TIGIRR-2 )
Gene Full Name: interleukin 1 receptor accessory protein-like 1
Band: Xp22.1-p21.3
Quick LinksEntrez ID:11141; OMIM: 300206; Uniprot ID:IRPL1_HUMAN; ENSEMBL ID: ENSG00000169306
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IEA-cytoplasm-
GO:0005886IDA-plasma membrane12783849
GO:0016021IEA-integral to membrane-
GO ID Evidence Qualifier GO_term References
GO:0004888IEA-transmembrane receptor activity-
GO:0005515IPI-protein binding12783849
GO:0019966IDANOTinterleukin-1 binding12783849
GO ID Evidence Qualifier GO_term References
GO:0007165IEA-signal transduction-
GO:0010975ISS-regulation of neuron projection development-
GO:0045087IEA-innate immune response-
GO:0045920IDA-negative regulation of exocytosis12783849
GO:0051927ISS-negative regulation of calcium ion transport via voltage-gated calcium channel activity-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NCS1IL1RAPL111631312783849 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
NCS1IL1RAPL111698512783849 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
No data
No data
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_3265 chrX:27901452-31506888 17122850 Affymetrix 500K EA SNP Mapping Array 1 1 2- 270 control samples (HapMap) IL1RAPL1, MAGEB4, MAGEB1, TAB3, DMD, FTHL17, MAGEB2, MAGEB3, GK, CXorf21, NR0B1, DCAF8L1
Variation_39573 chrX:28695762-28708358 18421352 Sequencing 0 1 1- 1 control sample (JD_Watson) IL1RAPL1
Variation_0241 chrX:29091437-29143794 15286789 BAC Array CGH 6 4 10- 39 control samples IL1RAPL1
Variation_96562 chrX:29176714-29178233 19900272 Custom Affymetrix oligonucleotide arrays 0 4 4- 90 Yoruban Individuals for Ibadan Nigeria IL1RAPL1
Variation_73950 chrX:29176738-29178248 19812545 NimbleGen custom 42M oligo array CGH 0 2 2 NA 39 HapMap Individuals + NA15510 IL1RAPL1
Variation_115301 chrX:29259584-29266178 20364138 Custom Agilent 24M oligonucleotide CGH array 2 0 2- 30 Asian Individuals (10 Koreans (KOR), 10 HapMap Chinese (CHB) and 10 HapMap Japanese (JPT) individuals) IL1RAPL1
Variation_9860 chrX:29702029-29734110 17921354 Illumina HumanHap550 BeadChip 1 1- 112 control samples (HapMap) IL1RAPL1
No data
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_59878 chrX:28692548-28696003 19470904 Illumina DNA sequencing 0 0 0- 1 male Korean individual, SJK IL1RAPL1
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2687319
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:4414655Il1rapl1[tm1.1Hesk]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
MGI:4434143Il1rapl1[tm1e(EUCOMM)Wtsi]Mutant from cell lines25260
-
MGI:4434152Il1rapl1[tm1a(EUCOMM)Wtsi]Mutant from cell lines25260
-