FunctionMay regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK.
Tissue specificityDetected 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.
Involvement in diseaseDefects in IL1RAPL1 are the cause of mental retardation X-linked type 21 (MRX21) [MIM:300143]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Sequence similaritiesBelongs to the interleukin-1 receptor family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 TIR domain.
Cellular localizationCell membrane. Cytoplasm. May localize to the cell body and growth cones of dendrite-like processes.