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IL1RAPL1 (interleukin 1 receptor accessory protein like 1)

Identity

Alias_namesIL1RAPL
MRX34
MRX21
MRX10
mental retardation, X-linked 34
mental retardation, X-linked 21
mental retardation, X-linked 10
Alias_symbol (synonym)OPHN4
TIGIRR-2
IL1R8
HGNC (Hugo) IL1RAPL1
LocusID (NCBI) 11141
Atlas_Id 50038
Location Xp21.3  [Link to chromosome band Xp21]
Location_base_pair Starts at 28605681 and ends at 29974017 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
IL1RAPL1 (Xp21.3) / DMD (Xp21.2)IL1RAPL1 (Xp21.3) / IL1RAPL1 (Xp21.3)IL1RAPL1 (Xp21.3) / MAGEB10 (Xp21.3)
PKP4 (2q24.1) / IL1RAPL1 (Xp21.3)IL1RAPL1 Xp21.3 / MAGEB10 Xp21.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)IL1RAPL1   5996
Cards
Entrez_Gene (NCBI)IL1RAPL1  11141  interleukin 1 receptor accessory protein like 1
AliasesIL1R8; IL1RAPL; MRX10; MRX21; 
MRX34; OPHN4; TIGIRR-2
GeneCards (Weizmann)IL1RAPL1
Ensembl hg19 (Hinxton)ENSG00000169306 [Gene_View]  chrX:28605681-29974017 [Contig_View]  IL1RAPL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000169306 [Gene_View]  chrX:28605681-29974017 [Contig_View]  IL1RAPL1 [Vega]
ICGC DataPortalENSG00000169306
TCGA cBioPortalIL1RAPL1
AceView (NCBI)IL1RAPL1
Genatlas (Paris)IL1RAPL1
WikiGenes11141
SOURCE (Princeton)IL1RAPL1
Genetics Home Reference (NIH)IL1RAPL1
Genomic and cartography
GoldenPath hg19 (UCSC)IL1RAPL1  -     chrX:28605681-29974017 +  Xp21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IL1RAPL1  -     Xp21.3   [Description]    (hg38-Dec_2013)
EnsemblIL1RAPL1 - Xp21.3 [CytoView hg19]  IL1RAPL1 - Xp21.3 [CytoView hg38]
Mapping of homologs : NCBIIL1RAPL1 [Mapview hg19]  IL1RAPL1 [Mapview hg38]
OMIM300143   300206   
Gene and transcription
Genbank (Entrez)AB102650 AF181284 AF284435 AJ243874 BC111918
RefSeq transcript (Entrez)NM_014271
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_008292 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)IL1RAPL1
Cluster EST : UnigeneHs.658912 [ NCBI ]
CGAP (NCI)Hs.658912
Alternative Splicing GalleryENSG00000169306
Gene ExpressionIL1RAPL1 [ NCBI-GEO ]   IL1RAPL1 [ EBI - ARRAY_EXPRESS ]   IL1RAPL1 [ SEEK ]   IL1RAPL1 [ MEM ]
Gene Expression Viewer (FireBrowse)IL1RAPL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11141
GTEX Portal (Tissue expression)IL1RAPL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZN1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZN1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZN1
Splice isoforms : SwissVarQ9NZN1
PhosPhoSitePlusQ9NZN1
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    TIR (PS50104)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_sub    Ig_sub2    IL-1_rcpt_fam    Immunoglobulin    TIR_dom   
Domain families : Pfam (Sanger)ig (PF00047)    TIR (PF01582)   
Domain families : Pfam (NCBI)pfam00047    pfam01582   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  TIR (SM00255)  
Conserved Domain (NCBI)IL1RAPL1
DMDM Disease mutations11141
Blocks (Seattle)IL1RAPL1
PDB (SRS)1T3G    4M92   
PDB (PDBSum)1T3G    4M92   
PDB (IMB)1T3G    4M92   
PDB (RSDB)1T3G    4M92   
Structural Biology KnowledgeBase1T3G    4M92   
SCOP (Structural Classification of Proteins)1T3G    4M92   
CATH (Classification of proteins structures)1T3G    4M92   
SuperfamilyQ9NZN1
Human Protein AtlasENSG00000169306
Peptide AtlasQ9NZN1
HPRD02193
IPIIPI00431738   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZN1
IntAct (EBI)Q9NZN1
FunCoupENSG00000169306
BioGRIDIL1RAPL1
STRING (EMBL)IL1RAPL1
ZODIACIL1RAPL1
Ontologies - Pathways
QuickGOQ9NZN1
Ontology : AmiGOreceptor binding  voltage-gated calcium channel activity  protein binding  cytoplasm  plasma membrane  heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  signal transduction  cell surface  regulation of neuron projection development  integral component of membrane  interleukin-1 binding  neuron differentiation  axon  dendrite  postsynaptic membrane  negative regulation of exocytosis  positive regulation of dendrite morphogenesis  calcium ion transmembrane transport  presynaptic membrane assembly  
Ontology : EGO-EBIreceptor binding  voltage-gated calcium channel activity  protein binding  cytoplasm  plasma membrane  heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  signal transduction  cell surface  regulation of neuron projection development  integral component of membrane  interleukin-1 binding  neuron differentiation  axon  dendrite  postsynaptic membrane  negative regulation of exocytosis  positive regulation of dendrite morphogenesis  calcium ion transmembrane transport  presynaptic membrane assembly  
NDEx NetworkIL1RAPL1
Atlas of Cancer Signalling NetworkIL1RAPL1
Wikipedia pathwaysIL1RAPL1
Orthology - Evolution
OrthoDB11141
GeneTree (enSembl)ENSG00000169306
Phylogenetic Trees/Animal Genes : TreeFamIL1RAPL1
HOVERGENQ9NZN1
HOGENOMQ9NZN1
Homologs : HomoloGeneIL1RAPL1
Homology/Alignments : Family Browser (UCSC)IL1RAPL1
Gene fusions - Rearrangements
Fusion : MitelmanIL1RAPL1/MAGEB10 [Xp21.3/Xp21.3]  
Fusion: TCGAIL1RAPL1 Xp21.3 MAGEB10 Xp21.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIL1RAPL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IL1RAPL1
dbVarIL1RAPL1
ClinVarIL1RAPL1
1000_GenomesIL1RAPL1 
Exome Variant ServerIL1RAPL1
ExAC (Exome Aggregation Consortium)IL1RAPL1 (select the gene name)
Genetic variants : HAPMAP11141
Genomic Variants (DGV)IL1RAPL1 [DGVbeta]
DECIPHER (Syndromes)X:28605681-29974017  ENSG00000169306
CONAN: Copy Number AnalysisIL1RAPL1 
Mutations
ICGC Data PortalIL1RAPL1 
TCGA Data PortalIL1RAPL1 
Broad Tumor PortalIL1RAPL1
OASIS PortalIL1RAPL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIL1RAPL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIL1RAPL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IL1RAPL1
DgiDB (Drug Gene Interaction Database)IL1RAPL1
DoCM (Curated mutations)IL1RAPL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IL1RAPL1 (select a term)
intoGenIL1RAPL1
Cancer3DIL1RAPL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300143    300206   
Orphanet3256   
MedgenIL1RAPL1
Genetic Testing Registry IL1RAPL1
NextProtQ9NZN1 [Medical]
TSGene11141
GENETestsIL1RAPL1
Huge Navigator IL1RAPL1 [HugePedia]
snp3D : Map Gene to Disease11141
BioCentury BCIQIL1RAPL1
ClinGenIL1RAPL1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11141
Chemical/Pharm GKB GenePA29812
Clinical trialIL1RAPL1
Miscellaneous
canSAR (ICR)IL1RAPL1 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIL1RAPL1
EVEXIL1RAPL1
GoPubMedIL1RAPL1
iHOPIL1RAPL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:40:22 CET 2016

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