| Entrez Gene ID |
11141 (NCBI Gene) |
| Official Gene Symbol |
IL1RAPL1 (GeneCards) |
| Number of variants in IL1RAPL1 in this database |
14 (view all the variants) |
| Full name |
interleukin 1 receptor accessory protein like 1 |
| Band |
Xp21.3-p21.2 |
| Other IDs |
Vega:
OTTHUMG00000021317
OMIM:
300206
HGNC:
HGNC:5996
Ensembl:
ENSG00000169306
|
| Other names |
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] |