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

Gene ID: 11141, updated on 12-Oct-2019

Summary

Official Symbol
IL1RAPL1provided by HGNC
Official Full Name
interleukin 1 receptor accessory protein like 1provided by HGNC
Primary source
HGNC:HGNC:5996
See related
Ensembl:ENSG00000169306 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; IL1RAPL-1; IL-1RAPL-1; IL-1-RAPL-1
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. 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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See IL1RAPL1 in Genome Data Viewer
Location:
Xp21.3-p21.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (28587446..29956718)
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 pseudogene 43 Neighboring gene RNA, 5S ribosomal pseudogene 500 Neighboring gene microRNA 4666b Neighboring gene Sharpr-MPRA regulatory region 11934 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class F pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation 21, X-linked 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
signaling 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 IEA
Inferred from Electronic Annotation
more info
 
cellular response to cytokine stimulus TAS
Traceable Author Statement
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
positive regulation of synapse assembly 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
 
regulation of postsynapse organization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of postsynapse organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of presynapse assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of presynapse assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
trans-synaptic signaling by trans-synaptic complex IDA
Inferred from Direct Assay
more info
PubMed 
trans-synaptic signaling by trans-synaptic complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
interleukin-1 receptor accessory protein-like 1
Names
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

NCBI Reference Sequences (RefSeq)

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_008292.2 RefSeqGene

    Range
    4883..1374155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014271.4NP_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)
    AC005748, AC112495, AF284435, AJ243874, DN994486
    Consensus CDS
    CCDS14218.1
    UniProtKB/Swiss-Prot
    Q9NZN1
    UniProtKB/TrEMBL
    X5DNQ7
    Related
    ENSP00000368278.1, ENST00000378993.6
    Conserved Domains (3) summary
    cd05896
    Location:32135
    Ig1_IL1RAPL-1_like; First immunoglobulin (Ig)-like domain of X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL-1)
    pfam01582
    Location:405559
    TIR; TIR domain
    cl28655
    Location:9334
    PHA02785; IL-beta-binding protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    28587446..29956718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029240.1XP_016884729.1  interleukin-1 receptor accessory protein-like 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9NZN1
    UniProtKB/TrEMBL
    X5DNQ7
    Conserved Domains (3) summary
    cd05896
    Location:32135
    Ig1_IL1RAPL-1_like; First immunoglobulin (Ig)-like domain of X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL-1)
    pfam01582
    Location:405559
    TIR; TIR domain
    cl28655
    Location:9334
    PHA02785; IL-beta-binding protein; Provisional
  2. XM_017029241.1XP_016884730.1  interleukin-1 receptor accessory protein-like 1 isoform X2

    Conserved Domains (4) summary
    smart00408
    Location:134215
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:129224
    IG_like; Immunoglobulin like
    pfam01582
    Location:279433
    TIR; TIR domain
    cl11960
    Location:22108
    Ig; Immunoglobulin domain
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