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Aliases for IL1RAPL1 Gene

Aliases for IL1RAPL1 Gene

  • Interleukin 1 Receptor Accessory Protein-Like 1 2 3
  • Three Immunoglobulin Domain-Containing IL-1 Receptor-Related 2 3 4
  • X-Linked Interleukin-1 Receptor Accessory Protein-Like 1 3 4
  • Mental Retardation, X-Linked 10 2 3
  • Oligophrenin-4 3 4
  • IL-1-RAPL-1 3 4
  • IL-1RAPL-1 3 4
  • IL1RAPL-1 3 4
  • TIGIRR-2 3 4
  • IL1R8 3 6
  • MRX21 3 6
  • MRX34 3 6
  • OPHN4 3 4
  • Interleukin-1 Receptor Accessory Protein-Like 1 3
  • Mental Retardation, X-Linked 34 2
  • Mental Retardation, X-Linked 21 2
  • Interleukin 1 Receptor-8 3
  • IL1RAPL 3
  • MRX10 3

External Ids for IL1RAPL1 Gene

Previous HGNC Symbols for IL1RAPL1 Gene

  • MRX34
  • MRX21
  • MRX10

Previous GeneCards Identifiers for IL1RAPL1 Gene

  • GC0XP028452
  • GC0XP028097
  • GC0XP027807
  • GC0XP027966
  • GC0XP028365
  • GC0XP026346

Summaries for IL1RAPL1 Gene

Entrez Gene Summary for IL1RAPL1 Gene

  • The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities. [provided by RefSeq, Jul 2008]

GeneCards Summary for IL1RAPL1 Gene

IL1RAPL1 (Interleukin 1 Receptor Accessory Protein-Like 1) is a Protein Coding gene. Diseases associated with IL1RAPL1 include x-linked mental retardation 21 and glycerol kinase deficiency. GO annotations related to this gene include receptor binding and interleukin-1 binding. An important paralog of this gene is IL1RAP.

UniProtKB/Swiss-Prot for IL1RAPL1 Gene

  • May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in presynaptic and postsynaptic differentiation and dendritic spine formation in neurons.

Gene Wiki entry for IL1RAPL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL1RAPL1 Gene

Genomics for IL1RAPL1 Gene

Regulatory Elements for IL1RAPL1 Gene

Genomic Location for IL1RAPL1 Gene

28,587,399 bp from pter
29,956,723 bp from pter
1,369,325 bases
Plus strand

Genomic View for IL1RAPL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IL1RAPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL1RAPL1 Gene

Proteins for IL1RAPL1 Gene

  • Protein details for IL1RAPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Interleukin-1 receptor accessory protein-like 1
    Protein Accession:
    Secondary Accessions:
    • A0AVG4
    • Q9UJ53

    Protein attributes for IL1RAPL1 Gene

    696 amino acids
    Molecular mass:
    79969 Da
    Quaternary structure:
    • Homodimer. Interacts (calcium-independent) with NCS1. Interacts (via extracellular region) with PTPRD; this interaction is required for IL1RAPL1-mediated synapse formation.

    Three dimensional structures from OCA and Proteopedia for IL1RAPL1 Gene

    Alternative splice isoforms for IL1RAPL1 Gene


neXtProt entry for IL1RAPL1 Gene

Proteomics data for IL1RAPL1 Gene at MOPED

Post-translational modifications for IL1RAPL1 Gene

  • Glycosylation at Asn63, Asn122, Asn138, Asn213, Asn264, and Asn331
  • Modification sites at PhosphoSitePlus

Other Protein References for IL1RAPL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for IL1RAPL1 (IL-1 RAPL1/IL-1 R8)

No data available for DME Specific Peptides for IL1RAPL1 Gene

Domains for IL1RAPL1 Gene

Gene Families for IL1RAPL1 Gene

  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • IL :Interleukins and interleukin receptors
  • ISET :Immunoglobulin superfamily / I-set domain containing

Graphical View of Domain Structure for InterPro Entry



  • Q9NZN1
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 TIR domain.
  • Belongs to the interleukin-1 receptor family.
genes like me logo Genes that share domains with IL1RAPL1: view

Function for IL1RAPL1 Gene

Molecular function for IL1RAPL1 Gene

GENATLAS Biochemistry:
interleukin 1,receptor accessory protein-like,expressed in the developing and post natal hippocampus and perception cortices,including the olfactory bulb (in mouse),potentially involved in the release of neurotransmitters that have an effect of synapse structure and plasticity
UniProtKB/Swiss-Prot Function:
May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in presynaptic and postsynaptic differentiation and dendritic spine formation in neurons.

Gene Ontology (GO) - Molecular Function for IL1RAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding ISS --
GO:0005245 voltage-gated calcium channel activity ISS --
GO:0005515 protein binding IPI 12783849
GO:0019966 NOT interleukin-1 binding IDA 12783849
genes like me logo Genes that share ontologies with IL1RAPL1: view

Phenotypes for IL1RAPL1 Gene

MGI mutant phenotypes for IL1RAPL1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with IL1RAPL1: view

Animal Models for IL1RAPL1 Gene

MGI Knock Outs for IL1RAPL1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IL1RAPL1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for IL1RAPL1 Gene

Localization for IL1RAPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL1RAPL1 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasm. Cell projection, axon. Cell projection, dendrite. Note=May localize to the cell body and growth cones of dendrite-like processes. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for IL1RAPL1 Gene COMPARTMENTS Subcellular localization image for IL1RAPL1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
peroxisome 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for IL1RAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA 12783849
GO:0009986 cell surface ISS --
GO:0016021 integral component of membrane IEA --
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with IL1RAPL1: view

Pathways for IL1RAPL1 Gene

SuperPathways for IL1RAPL1 Gene

No Data Available

Interacting Proteins for IL1RAPL1 Gene

Gene Ontology (GO) - Biological Process for IL1RAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS --
GO:0007165 signal transduction IEA --
GO:0010975 regulation of neuron projection development ISS --
GO:0030182 neuron differentiation ISS --
GO:0045920 negative regulation of exocytosis IDA 12783849
genes like me logo Genes that share ontologies with IL1RAPL1: view

No data available for Pathways by source for IL1RAPL1 Gene

Compounds for IL1RAPL1 Gene

(1) Novoseek inferred chemical compound relationships for IL1RAPL1 Gene

Compound -log(P) Hits PubMed IDs
glycerol 53.4 4
genes like me logo Genes that share compounds with IL1RAPL1: view

Transcripts for IL1RAPL1 Gene

mRNA/cDNA for IL1RAPL1 Gene

(3) Selected AceView cDNA sequences:
(3) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IL1RAPL1 Gene

Interleukin 1 receptor accessory protein-like 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IL1RAPL1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL1RAPL1 Gene

No ASD Table

Relevant External Links for IL1RAPL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IL1RAPL1 Gene

mRNA expression in normal human tissues for IL1RAPL1 Gene

mRNA differential expression in normal tissues according to GTEx for IL1RAPL1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (5.4) and Brain - Substantia nigra (4.4).

Protein differential expression in normal tissues for IL1RAPL1 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IL1RAPL1 Gene

SOURCE GeneReport for Unigene cluster for IL1RAPL1 Gene Hs.658912

mRNA Expression by UniProt/SwissProt for IL1RAPL1 Gene

Tissue specificity: Detected at low levels in heart, skeletal muscle, ovary, skin, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Detected at very low levels in tonsil, prostate, testis, small intestine, placenta, colon and fetal liver.
genes like me logo Genes that share expressions with IL1RAPL1: view

Expression partners for IL1RAPL1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for IL1RAPL1 Gene

Orthologs for IL1RAPL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL1RAPL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia IL1RAPL1 35
  • 94.44 (n)
  • 99.28 (a)
(Canis familiaris)
Mammalia IL1RAPL1 35
  • 95.31 (n)
  • 99.57 (a)
  • 100 (a)
(Mus musculus)
Mammalia Il1rapl1 35
  • 92.39 (n)
  • 98.56 (a)
Il1rapl1 16
Il1rapl1 36
  • 99 (a)
(Pan troglodytes)
Mammalia IL1RAPL1 35
  • 99.76 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Il1rapl1 35
  • 92.1 (n)
  • 98.85 (a)
(Monodelphis domestica)
Mammalia IL1RAPL1 36
  • 96 (a)
(Ornithorhynchus anatinus)
Mammalia IL1RAPL1 36
  • 88 (a)
(Gallus gallus)
Aves IL1RAPL1 35
  • 85.97 (n)
  • 94.68 (a)
  • 95 (a)
(Anolis carolinensis)
Reptilia IL1RAPL1 36
  • 99 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia il1rapl1 35
  • 81.32 (n)
  • 90.66 (a)
(Danio rerio)
Actinopterygii Dr.29232 35
il1rapl1b 35
  • 68.77 (n)
  • 75.57 (a)
il1rapl1a 36
  • 64 (a)
il1rapl1b 36
  • 79 (a)
Species with no ortholog for IL1RAPL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IL1RAPL1 Gene

Gene Tree for IL1RAPL1 (if available)
Gene Tree for IL1RAPL1 (if available)

Paralogs for IL1RAPL1 Gene

Paralogs for IL1RAPL1 Gene

Selected SIMAP similar genes for IL1RAPL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with IL1RAPL1: view

Variants for IL1RAPL1 Gene

Sequence variations from dbSNP and Humsavar for IL1RAPL1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs3769 -- 28,853,455(-) TGGGG(A/G)AACAG intron-variant
rs115125 -- 28,672,169(-) TGCAA(A/C)GTTCA intron-variant
rs115126 -- 28,671,896(-) TCTCA(C/T)ATGGA intron-variant
rs120944 -- 28,685,054(-) TGTAA(A/C)TTTCT intron-variant
rs170418 -- 29,121,495(+) GTTGT(A/G)GACTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IL1RAPL1 Gene

Variant ID Type Subtype PubMed ID
nsv6841 CNV Insertion 18451855
nsv521056 CNV Gain 19592680
esv270562 CNV Insertion 20981092
esv2670562 CNV Deletion 23128226
esv2740043 CNV Deletion 23290073
esv9700 OTHER Inversion 19470904
nsv521806 CNV Gain 19592680
nsv516364 CNV Gain 19592680
esv1562020 OTHER Inversion 17803354
esv2678956 CNV Deletion 23128226
esv2660380 CNV Deletion 23128226
nsv508758 CNV Insertion 20534489
nsv483160 CNV Complex 15286789
esv1124430 CNV Insertion 17803354
esv24751 CNV Loss 19812545
nsv507954 CNV Insertion 20534489
nsv521673 CNV Gain 19592680
dgv1251n67 CNV Gain 20364138
nsv508759 CNV Insertion 20534489
esv269436 CNV Insertion 20981092
nsv523313 CNV Loss 19592680
nsv522610 CNV Gain 19592680
nsv527547 CNV Gain 19592680
esv2740044 CNV Deletion 23290073
nsv425042 CNV Insertion 16902084
esv2676609 CNV Deletion 23128226
esv2657228 CNV Deletion 23128226
nsv527992 CNV Gain 19592680
nsv527548 CNV Gain 19592680
nsv818020 CNV Loss 17921354
esv2740045 CNV Deletion 23290073
nsv523207 CNV Gain 19592680

Relevant External Links for IL1RAPL1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL1RAPL1 Gene

Disorders for IL1RAPL1 Gene

(1) OMIM Diseases for IL1RAPL1 Gene (300206)


  • Mental retardation, X-linked 21 (MRX21) [MIM:300143]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:10757639, ECO:0000269 PubMed:16470793}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for IL1RAPL1 Gene

(4) Novoseek inferred disease relationships for IL1RAPL1 Gene

Disease -log(P) Hits PubMed IDs
glycerol kinase deficiency 93.6 3
adrenal hypoplasia, congenital 91.8 3
addisons disease 78.2 2
mental retardation 69.8 12

Relevant External Links for IL1RAPL1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with IL1RAPL1: view

No data available for Genatlas for IL1RAPL1 Gene

Publications for IL1RAPL1 Gene

  1. Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.3-Xp21.3 mental retardation. (PMID: 10757639) Jin H. … Roberts R.G. (Eur. J. Hum. Genet. 2000) 2 3 4 23
  2. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. (PMID: 10471494) Carrie A. … Chelly J. (Nat. Genet. 1999) 2 3 4
  3. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. (PMID: 18801879) Piton A. … Rouleau G.A. (Hum. Mol. Genet. 2008) 3 4 23
  4. A truncating mutation in the IL1RAPL1 gene is responsible for X- linked mental retardation in the MRX21 family. (PMID: 16470793) Tabolacci E. … Neri G. (Am. J. Med. Genet. A 2006) 3 4 23
  5. Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL. (PMID: 15123616) Khan J.A. … Tong L. (J. Biol. Chem. 2004) 3 4 23

Products for IL1RAPL1 Gene

Sources for IL1RAPL1 Gene

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