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    IL1RAPL1 interleukin 1 receptor accessory protein-like 1 [ Homo sapiens (human) ]

    Gene ID: 11141, updated on 27-Jun-2015
    Official Symbol
    IL1RAPL1provided by HGNC
    Official Full Name
    interleukin 1 receptor accessory protein-like 1provided by HGNC
    Primary source
    HGNC:HGNC:5996
    See related
    HPRD:02193; MIM:300206
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IL1R8; MRX10; MRX21; MRX34; OPHN4; IL1RAPL; TIGIRR-2
    Summary
    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]
    Orthologs
    See IL1RAPL1 in Epigenomics, MapViewer
    Location:
    Xp22.1-p21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (28587564..29956350)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (28605681..29974467)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373152 Neighboring gene microRNA 6134 Neighboring gene H3 histone, family 3B (H3.3B) pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 500 Neighboring gene microRNA 4666b Neighboring gene melanoma antigen family A10 pseudogene Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Mental retardation 21, X-linked
    MedGen: C0796227 OMIM: 300143 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-08-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-23)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT interleukin-1 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of exocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    presynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    interleukin-1 receptor accessory protein-like 1
    Names
    interleukin-1 receptor accessory protein-like 1
    IL-1-RAPL-1
    IL-1RAPL-1
    IL1RAPL-1
    X-linked interleukin-1 receptor accessory protein-like 1
    interleukin 1 receptor-8
    mental retardation, X-linked 10
    oligophrenin-4
    three immunoglobulin domain-containing IL-1 receptor-related 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008292.1 RefSeqGene

      Range
      5001..1373337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014271.3NP_055086.1  interleukin-1 receptor accessory protein-like 1 precursor

      See identical proteins and their annotated locations for NP_055086.1

      Status: REVIEWED

      Source sequence(s)
      AC112495, AF284435, AJ243874, DN994486
      Consensus CDS
      CCDS14218.1
      UniProtKB/Swiss-Prot
      Q9NZN1
      UniProtKB/TrEMBL
      X5DNQ7
      Conserved Domains (5) summary
      cd00096
      Location:263347
      Ig; Immunoglobulin domain
      cd05896
      Location:32135
      Ig1_IL1RAPL-1_like; First immunoglobulin (Ig)-like domain of X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL-1)
      PHA02785
      Location:9334
      PHA02785; IL-beta-binding protein; Provisional
      pfam01582
      Location:407558
      TIR; TIR domain
      cl11960
      Location:148234
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      28587564..29956350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274441.1XP_005274498.1  

      See identical proteins and their annotated locations for XP_005274498.1

      UniProtKB/Swiss-Prot
      Q9NZN1
      UniProtKB/TrEMBL
      X5DNQ7
      Conserved Domains (5) summary
      cd00096
      Location:263347
      Ig; Immunoglobulin domain
      cd05896
      Location:32135
      Ig1_IL1RAPL-1_like; First immunoglobulin (Ig)-like domain of X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL-1)
      PHA02785
      Location:9334
      PHA02785; IL-beta-binding protein; Provisional
      pfam01582
      Location:407558
      TIR; TIR domain
      cl11960
      Location:148234
      Ig; Immunoglobulin domain
    2. XM_011545445.1XP_011543747.1  

      See identical proteins and their annotated locations for XP_011543747.1

      Conserved Domains (5) summary
      cd00096
      Location:263347
      Ig; Immunoglobulin domain
      cd05896
      Location:32135
      Ig1_IL1RAPL-1_like; First immunoglobulin (Ig)-like domain of X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL-1)
      PHA02785
      Location:9334
      PHA02785; IL-beta-binding protein; Provisional
      pfam01582
      Location:407558
      TIR; TIR domain
      cl11960
      Location:148234
      Ig; Immunoglobulin domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      28636125..30004681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)