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Aliases for IL1RAPL1 Gene

Aliases for IL1RAPL1 Gene

  • Interleukin 1 Receptor Accessory Protein Like 1 2 3 5
  • 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
  • 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
  • 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. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. 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, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]

GeneCards Summary for IL1RAPL1 Gene

IL1RAPL1 (Interleukin 1 Receptor Accessory Protein Like 1) is a Protein Coding gene. Diseases associated with IL1RAPL1 include Mental Retardation, X-Linked 21 and X-Linked Non-Specific Intellectual Disability. Gene Ontology (GO) annotations related to this gene include receptor binding and interleukin-1 binding. An important paralog of this gene is IL1RAPL2.

UniProtKB/Swiss-Prot for IL1RAPL1 Gene

  • May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel (PubMed:12783849). May activate the MAP kinase JNK (PubMed:15123616). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).

Gene Wiki entry for IL1RAPL1 Gene

Additional gene information for IL1RAPL1 Gene

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

Genomics for IL1RAPL1 Gene

GeneHancer (GH) Regulatory Elements for IL1RAPL1 Gene

Promoters and enhancers for IL1RAPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI028585 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.9 1939 6.9 CTCF JUND GATA3 ZSCAN4 ZNF143 RAD21 IL1RAPL1 ENSG00000223742 PIR55596
GH0XI028498 Enhancer 0.4 ENCODE 10.1 -88.5 -88526 1.7 JUND EZH2 IL1RAPL1 MIR6134 PIR50036
GH0XI028506 Enhancer 0.2 ENCODE 10.6 -79.7 -79720 1.6 IL1RAPL1 MIR6134 PIR50036
GH0XI028599 Enhancer 0.3 dbSUPER 0.4 +12.4 12409 1.1 ATF4 IL1RAPL1 PIR55596
GH0XI028624 Enhancer 0.4 dbSUPER 0.3 +38.1 38085 1.5 SP1 POLR2A GC0XP028625 GC0XP028626 GC0XP028627 GC0XP028628 GC0XP028629 PIR55596 PIR59438 LOC100506811 IL1RAPL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IL1RAPL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL1RAPL1 gene promoter:

Genomic Locations for IL1RAPL1 Gene

Genomic Locations for IL1RAPL1 Gene
chrX:28,587,399-29,956,723
(GRCh38/hg38)
Size:
1,369,325 bases
Orientation:
Plus strand
chrX:28,605,516-29,974,840
(GRCh37/hg19)

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 (PubMed:15123616). Interacts (calcium-independent) with NCS1 (PubMed:12783849). Interacts (via the first immunoglobilin domain) with PTPRD (via the second immunoglobilin domain); this interaction is PTPRD-splicing-dependent and induces pre- and post-synaptic differentiation of neurons and is required for IL1RAPL1-mediated synapse formation (By similarity).

    Three dimensional structures from OCA and Proteopedia for IL1RAPL1 Gene

    Alternative splice isoforms for IL1RAPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL1RAPL1 Gene

Post-translational modifications for IL1RAPL1 Gene

  • Glycosylation at isoforms=63, isoforms=122, isoforms=138, posLast=213213, posLast=264264, and isoforms=331

Other Protein References for IL1RAPL1 Gene

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 :
  • Belongs to the interleukin-1 receptor family.
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 (PubMed:12783849). May activate the MAP kinase JNK (PubMed:15123616). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).

Phenotypes From GWAS Catalog for IL1RAPL1 Gene

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
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

Clone Products

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

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL1RAPL1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
peroxisome 2
nucleus 2
extracellular 1
cytosol 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 TAS --
GO:0009986 cell surface ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IL1RAPL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL1RAPL1 Gene

Pathways & Interactions for IL1RAPL1 Gene

SuperPathways for IL1RAPL1 Gene

No Data Available

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:0034765 regulation of ion transmembrane transport IEA --
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 :
(11) 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:

Clone Products

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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for IL1RAPL1 Gene



Protein tissue co-expression partners for IL1RAPL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IL1RAPL1 Gene:

IL1RAPL1

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.

Evidence on tissue expression from TISSUES for IL1RAPL1 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL1RAPL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
  • testicle
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IL1RAPL1: view

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
chimpanzee
(Pan troglodytes)
Mammalia IL1RAPL1 33 34
  • 99.76 (n)
oppossum
(Monodelphis domestica)
Mammalia IL1RAPL1 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IL1RAPL1 33 34
  • 95.31 (n)
cow
(Bos Taurus)
Mammalia IL1RAPL1 33
  • 94.44 (n)
mouse
(Mus musculus)
Mammalia Il1rapl1 33 16 34
  • 92.39 (n)
rat
(Rattus norvegicus)
Mammalia Il1rapl1 33
  • 92.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IL1RAPL1 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL1RAPL1 33 34
  • 85.97 (n)
lizard
(Anolis carolinensis)
Reptilia IL1RAPL1 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia il1rapl1 33
  • 81.32 (n)
zebrafish
(Danio rerio)
Actinopterygii il1rapl1b 33 34
  • 68.77 (n)
il1rapl1a 34
  • 64 (a)
OneToMany
Dr.29232 33
Species where no ortholog for IL1RAPL1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1057515846 uncertain-significance, Non-syndromic X-linked intellectual disability 28,587,670(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1057515849 uncertain-significance, Non-syndromic X-linked intellectual disability 28,587,990(+) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1057515851 uncertain-significance, Non-syndromic X-linked intellectual disability 29,954,688(+) T/A coding_sequence_variant, synonymous_variant
rs1057515852 uncertain-significance, Non-syndromic X-linked intellectual disability 29,955,419(+) A/C coding_sequence_variant, missense_variant
rs122461160 pathogenic, Mental retardation 21, X-linked 29,955,106(+) C/A coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
dgv1251n67 CNV gain 20364138
dgv2245e212 CNV loss 25503493
dgv2246e212 CNV loss 25503493
dgv2247e212 CNV loss 25503493
dgv2248e212 CNV loss 25503493
dgv4220n106 OTHER inversion 24896259
dgv4221n106 CNV deletion 24896259
esv1124430 CNV insertion 17803354
esv1562020 OTHER inversion 17803354
esv24751 CNV loss 19812545
esv2657228 CNV deletion 23128226
esv2660380 CNV deletion 23128226
esv2670562 CNV deletion 23128226
esv2676609 CNV deletion 23128226
esv2678956 CNV deletion 23128226
esv2740043 CNV deletion 23290073
esv2740044 CNV deletion 23290073
esv2740045 CNV deletion 23290073
esv3305158 CNV mobile element insertion 20981092
esv3375960 CNV insertion 20981092
esv3386087 CNV insertion 20981092
esv3447024 CNV insertion 20981092
esv3558738 CNV deletion 23714750
esv3558740 CNV deletion 23714750
esv3558742 CNV deletion 23714750
esv3558745 CNV deletion 23714750
esv3573700 CNV loss 25503493
esv3573701 CNV loss 25503493
esv3573702 CNV loss 25503493
esv3573703 CNV loss 25503493
esv3573704 CNV loss 25503493
esv3573705 CNV loss 25503493
esv3573713 CNV loss 25503493
esv3573714 CNV loss 25503493
esv3573715 CNV loss 25503493
esv3573716 CNV loss 25503493
esv3573717 CNV loss 25503493
esv3573718 CNV loss 25503493
esv3573719 CNV loss 25503493
esv3573721 CNV loss 25503493
esv3573724 CNV loss 25503493
esv3573725 CNV loss 25503493
esv3573726 CNV loss 25503493
esv3573729 CNV loss 25503493
esv3573730 CNV loss 25503493
esv3573732 CNV loss 25503493
esv3573733 CNV loss 25503493
esv3573736 CNV loss 25503493
esv3573737 CNV loss 25503493
esv9700 OTHER inversion 19470904
nsv1132757 CNV duplication 24896259
nsv1133762 CNV deletion 24896259
nsv1141669 CNV duplication 24896259
nsv425042 CNV insertion 16902084
nsv474609 CNV novel sequence insertion 20440878
nsv477243 CNV novel sequence insertion 20440878
nsv507954 OTHER sequence alteration 20534489
nsv508758 CNV insertion 20534489
nsv508759 CNV insertion 20534489
nsv516364 CNV gain 19592680
nsv521056 CNV gain 19592680
nsv521673 CNV gain 19592680
nsv521806 CNV gain 19592680
nsv522610 CNV gain 19592680
nsv523207 CNV gain 19592680
nsv523313 CNV loss 19592680
nsv527547 CNV gain 19592680
nsv527548 CNV gain 19592680
nsv527992 CNV gain 19592680
nsv6841 CNV insertion 18451855
nsv818020 CNV loss 17921354
nsv957792 CNV deletion 24416366

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)

Additional Variant Information for IL1RAPL1 Gene

Human Gene Mutation Database (HGMD)
IL1RAPL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL1RAPL1

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

Disorders for IL1RAPL1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for IL1RAPL1 Gene - From: HGMD, OMIM, ClinVar, GTR, 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.

Additional Disease Information for IL1RAPL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 Xp22.1-Xp21.3 mental retardation. (PMID: 10757639) Jin H … Roberts RG (European journal of human genetics : EJHG 2000) 2 3 4 22 58
  2. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. (PMID: 18801879) Piton A … Rouleau GA (Human molecular genetics 2008) 3 4 22 58
  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 (American journal of medical genetics. Part A 2006) 3 4 22 58
  4. Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL. (PMID: 15123616) Khan JA … Tong L (The Journal of biological chemistry 2004) 3 4 22 58
  5. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. (PMID: 12783849) Bahi N … Chelly J (Human molecular genetics 2003) 3 4 22 58

Products for IL1RAPL1 Gene

Sources for IL1RAPL1 Gene

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