IL1RAPL1 Chromosome X
Interleukin 1 receptor accessory protein like 1
Upload your DNA to see your personal genotypes for variants in IL1RAPL1.
What This Gene Does
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]
Gene Info
Gene Group
"I-set domain containing|Interleukin receptors|TIR domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xp21.3-p21.2
Ensembl
ENSG00000169306
Associated Conditions (5)
Inborn genetic diseases
Intellectual disability
X-linked 21
IL1RAPL1-related disorder
See cases
Key Variants
RS1030366729
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1198210140
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1238348693
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1242850856
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 21, Intellectual disability
Health Risk
RS1397912387
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 21, Intellectual disability
Health Risk
RS377167082
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 21, Intellectual disability
Health Risk
RS751673587
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS756672167
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 21, Inborn genetic diseases
Health Risk
RS773998745
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 21, Intellectual disability
Health Risk
RS1064795372
Likely pathogenic
IL1RAPL1-related disorder, IL1RAPL1-related disorder
Health Risk
RS122461161
Likely pathogenic
Intellectual disability, X-linked 21, Intellectual disability
Health Risk
RS144365564
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1030366729 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1198210140 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1238348693 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1242850856 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 21, Intellectual disability |
| RS1397912387 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 21, Intellectual disability |
| RS377167082 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 21, Intellectual disability |
| RS751673587 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756672167 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 21, Inborn genetic diseases |
| RS773998745 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 21, Intellectual disability |
| RS1064795372 | Health Risk | Likely pathogenic | IL1RAPL1-related disorder, IL1RAPL1-related disorder |
| RS122461161 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS144365564 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1933918055 | Health Risk | Likely pathogenic | — |
| RS1933958646 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2147239911 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2147251555 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS2147258610 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS2147258658 | Health Risk | Likely pathogenic | — |
| RS2147258665 | Health Risk | Likely pathogenic | — |
| RS2147259265 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS2518875196 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS2518941201 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS2519091663 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS122461160 | Health Risk | Pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS1569203705 | Health Risk | Pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS1569208908 | Health Risk | Pathogenic | Intellectual disability, X-linked 21, Intellectual disability |
| RS2147258619 | Health Risk | Pathogenic | — |
| RS2519094101 | Health Risk | Pathogenic | — |
| RS878853146 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS886041775 | Health Risk | Pathogenic | — |
| RS781674023 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 21, Intellectual disability |