IL1RAPL1
Domain
The TIR domain mediates NAD(+) hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.
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).
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 forms, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the interleukin-1 receptor family.
Tissue Specificity
Detected at low levels in heart, skeletal muscle, ovary, skin, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Detected at very low levels in tonsil, prostate, testis, small intestine, placenta, colon and fetal liver.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cytoplasm
- Cell projection
- Axon
- Cell projection
- Dendrite
- May localize to the cell body and growth cones of dendrite-like processes.
Alternative names
OPHN4, IL1RAPL1, Interleukin-1 receptor accessory protein-like 1, IL-1-RAPL-1, IL-1RAPL-1, IL1RAPL-1, Oligophrenin-4, Three immunoglobulin domain-containing IL-1 receptor-related 2, X-linked interleukin-1 receptor accessory protein-like 1, TIGIRR-2