IL1RAPL1

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]

Description

Interleukin 1 receptor accessory protein like 1

Tissue specificity

Tissue enriched (brain)

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

X (28587446 - 29956718)

Ensembl ID

ENSG00000169306  (ver. 103.38)

Orthologs

Mouse Il1rapl1: ENSMUSG00000052372

UniProt

Q9NZN1

neXtProt

NX_Q9NZN1

Human splice variants
Mouse splice variants

Protein structure