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. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. 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. [provided by RefSeq]

Full Name

interleukin 1 receptor accessory protein-like 1

Function

May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel (PubMed:12783849).

May activate the MAP kinase JNK (PubMed:15123616).

Plays a role in neurite outgrowth (By similarity).

During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).

Biological Process

Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules Source: BHF-UCL
Negative regulation of exocytosis Source: UniProtKB
Neuron differentiation Source: BHF-UCL
Positive regulation of dendrite morphogenesis Source: BHF-UCL
Positive regulation of synapse assembly Source: UniProtKB
Presynaptic membrane assembly Source: BHF-UCL
Regulation of neuron projection development Source: UniProtKB
Regulation of postsynapse organization Source: SynGO
Regulation of presynapse assembly Source: SynGO
Signal transduction Source: InterPro
Trans-synaptic signaling by trans-synaptic complex Source: SynGO

Cellular Location

Cell membrane; Cytoplasm; Axon; Dendrite. May localize to the cell body and growth cones of dendrite-like processes.

Involvement in disease

Intellectual developmental disorder, X-linked 21 (XLID21):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

Topology

Extracellular: 19-357
Helical: 358-378
Cytoplasmic: 379-696