IL1RAPL1: Interleukin 1 Receptor Accessory Protein Like 1
A gene associated with X-linked intellectual disability and synaptic function
Gene Information Card
| Symbol | IL1RAPL1 |
|---|---|
| Full Name | Interleukin 1 receptor accessory protein like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp21.3-p21.2 |
| NCBI Gene ID | 11141 ncbi.nlm.nih.gov/gene/11141 |
| Ensembl ID | ENSG00000169306 |
| UniProt ID | Q9NZN1 |
| OMIM ID | 300206 |
| HGNC ID | 5996 |
| Aliases | IL1RAPL, MRX34, OPHN4, TIGIRR-2 |
Description
IL1RAPL1 encodes a member of the interleukin 1 receptor family, primarily expressed in the brain. The protein is involved in synaptic development and function, particularly in the formation and maintenance of excitatory synapses. Mutations in this gene are associated with X-linked intellectual disability and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations impair synaptic protein interactions, disrupting synapse formation and plasticity | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants may alter synaptic signaling pathways | ClinVar |
| Epilepsy | Disruption of neuronal excitability regulation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 2.1 | Low |
| Lung | 0.8 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.4 | Neuroblastoma cell line |
| U-87 MG | 3.2 | Glioblastoma cell line |
| HEK 293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function |
| c.497G>A (p.Trp166*) | Nonsense | Rare | Loss of function |
| c.1234delG | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, associated with intellectual disability
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • interleukin-1 receptor activity (GO:0004908) | • protein binding (GO:0005515) |
| • nervous system development (GO:0007399) | • cell junction (GO:0030054) |
| • synapse (GO:0045202) |
Pathways
• Interleukin-1 signaling
• Synaptic signaling pathways
Protein Summary
IL1RAPL1 is a transmembrane protein with three extracellular immunoglobulin-like domains and a cytoplasmic Toll/interleukin-1 receptor (TIR) domain. It localizes to postsynaptic densities and interacts with PSD-95 and other synaptic scaffolds to regulate excitatory synapse formation. The protein is critical for normal cognitive development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL1RAPL1 Knockout HEK293 Cell Line | EDJ-KQ7298 | Human | 11141 | Details Get a Quote |
| IL1RAPL1 Knockout HeLa Cell Line | EDJ-KQ55581 | Human | 11141 | Details Get a Quote |
| IL1RAPL1 Knockout A-549 Cell Line | EDJ-KQ64078 | Human | 11141 | Details Get a Quote |
| IL1RAPL1 Knockout HCT 116 Cell Line | EDJ-KQ72527 | Human | 11141 | Details Get a Quote |
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