IL1RAPL1 interleukin 1 receptor accessory protein like 1
Gene ID: 11141, updated on 11-Apr-2024Gene type: protein coding
Also known as: IL1R8; MRX10; MRX21; MRX34; OPHN4; IL1RAPL; TIGIRR-2; IL1RAPL-1; IL-1RAPL-1; IL-1-RAPL-1
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- Go to complete Gene record for IL1RAPL1
- Go to Variation Viewer for IL1RAPL1 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Intellectual disability, X-linked 21 | See labs |
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. GeneReviews: Not available |
Copy number response
Description |
---|
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-11-14) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2023-11-14) ClinGen Genome Curation Page |
Genomic context
- Location:
- Xp21.3-p21.2
- Sequence:
- Chromosome: X; NC_000023.11 (28587446..29956718)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for IL1RAPL1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IL1RAPL1 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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