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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
  • Interleukin 1 Receptor Accessory Protein-Like 1 3 5
  • 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
  • OPHN4 3 4
  • Mental Retardation, X-Linked 34 2
  • Mental Retardation, X-Linked 21 2
  • Interleukin 1 Receptor-8 3
  • IL1RAPL 3
  • IL1R8 3
  • MRX10 3
  • MRX21 3
  • MRX34 3

External Ids for IL1RAPL1 Gene

Previous HGNC Symbols for IL1RAPL1 Gene

  • IL1RAPL
  • 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 Non-Syndromic X-Linked Intellectual Disability. 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

Enhancers for IL1RAPL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IL1RAPL1 on UCSC Golden Path with GeneCards custom track

Promoters for IL1RAPL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IL1RAPL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for IL1RAPL1 Gene

Chromosome:
X
Start:
28,587,399 bp from pter
End:
29,956,723 bp from pter
Size:
1,369,325 bases
Orientation:
Plus strand

Genomic View for IL1RAPL1 Gene

Genes around IL1RAPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL1RAPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q9NZN1-IRPL1_HUMAN
    Recommended name:
    Interleukin-1 receptor accessory protein-like 1
    Protein Accession:
    Q9NZN1
    Secondary Accessions:
    • A0AVG4
    • Q9UJ53

    Protein attributes for IL1RAPL1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for IL1RAPL1 Gene

Proteomics data for IL1RAPL1 Gene at MOPED

Post-translational modifications for IL1RAPL1 Gene

  • Glycosylation at Asn 63, Asn 122, Asn 138, Asn 213, Asn 264, and Asn 331
  • 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)
  • Cloud-Clone Corp. Antibodies for IL1RAPL1

No data available for DME Specific Peptides for IL1RAPL1 Gene

Domains & Families for IL1RAPL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZN1

UniProtKB/Swiss-Prot:

IRPL1_HUMAN :
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the interleukin-1 receptor family.
Domain:
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 TIR domain.
Family:
  • 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.
genes like me logo Genes that share phenotypes with IL1RAPL1: view

Human Phenotype Ontology for IL1RAPL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL1RAPL1 Gene

MGI Knock Outs for IL1RAPL1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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

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

Gene Ontology (GO) - Cellular Components for IL1RAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite ISS --
genes like me logo Genes that share ontologies with IL1RAPL1: view

Pathways & Interactions 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:0010975 regulation of neuron projection development ISS --
GO:0097105 presynaptic membrane assembly ISS --
genes like me logo Genes that share ontologies with IL1RAPL1: view

No data available for Pathways by source and SIGNOR curated interactions for IL1RAPL1 Gene

Drugs & Compounds for IL1RAPL1 Gene

(1) Drugs for IL1RAPL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with IL1RAPL1: view

Transcripts for IL1RAPL1 Gene

mRNA/cDNA for IL1RAPL1 Gene

(3) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(3) Selected AceView cDNA 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:

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

No ASD Table

Relevant External Links for IL1RAPL1 Gene

GeneLoc Exon Structure for
IL1RAPL1
ECgene alternative splicing isoforms for
IL1RAPL1

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) (x5.4) and Brain - Substantia nigra (x4.4).

Protein differential expression in normal tissues from HIPED for IL1RAPL1 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q9NZN1-IRPL1_HUMAN
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 expression patterns with IL1RAPL1: view

Protein tissue co-expression partners for IL1RAPL1 Gene

- Elite partner

Primer 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
cow
(Bos Taurus)
Mammalia IL1RAPL1 35
  • 94.44 (n)
  • 99.28 (a)
dog
(Canis familiaris)
Mammalia IL1RAPL1 35
  • 95.31 (n)
  • 99.57 (a)
IL1RAPL1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Il1rapl1 35
  • 92.39 (n)
  • 98.56 (a)
Il1rapl1 16
Il1rapl1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IL1RAPL1 35
  • 99.76 (n)
  • 100 (a)
IL1RAPL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il1rapl1 35
  • 92.1 (n)
  • 98.85 (a)
oppossum
(Monodelphis domestica)
Mammalia IL1RAPL1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IL1RAPL1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL1RAPL1 35
  • 85.97 (n)
  • 94.68 (a)
IL1RAPL1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IL1RAPL1 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia il1rapl1 35
  • 81.32 (n)
  • 90.66 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.29232 35
il1rapl1b 35
  • 68.77 (n)
  • 75.57 (a)
il1rapl1a 36
  • 64 (a)
OneToMany
il1rapl1b 36
  • 79 (a)
OneToMany
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

ENSEMBL:
Gene Tree for IL1RAPL1 (if available)
TreeFam:
Gene Tree for IL1RAPL1 (if available)

Paralogs for IL1RAPL1 Gene

Paralogs for IL1RAPL1 Gene

(2) 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
rs138267399 - 29,941,729(+) CTACA(A/G)GTGTT reference, missense
VAR_062264 -
VAR_062265 -
VAR_062266 -
rs747670114 -- 28,664,939(+) TTTTT(A/G)TTCAT 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

Variation tolerance for IL1RAPL1 Gene

Residual Variation Intolerance Score: 8.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IL1RAPL1 Gene

Human Gene Mutation Database (HGMD)
IL1RAPL1

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

Disorders for IL1RAPL1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for IL1RAPL1 Gene - From: ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IRPL1_HUMAN
  • 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.

Relevant External Links for IL1RAPL1

Genetic Association Database (GAD)
IL1RAPL1
Human Genome Epidemiology (HuGE) Navigator
IL1RAPL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IL1RAPL1
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 67
  2. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. (PMID: 18801879) Piton A. … Rouleau G.A. (Hum. Mol. Genet. 2008) 3 23
  3. 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 23
  4. 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 23
  5. IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1. (PMID: 15300857) Zhang Y.H. … Dipple K.M. (Hum. Mutat. 2004) 3 23

Products for IL1RAPL1 Gene

Sources for IL1RAPL1 Gene

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