IL1RAPL1 gene

interleukin 1 receptor accessory protein like 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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).

From NCBI Gene:

  • Mental retardation 21, X-linked

From UniProt:

Mental retardation, X-linked 21 (MRX21): 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. [MIM:300143]

Cytogenetic Location: Xp21.3-p21.2, which is the short (p) arm of the X chromosome between positions 21.3 and 21.2

Molecular Location: base pairs 28,587,446 to 29,956,718 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: Xp21.3-p21.2, which is the short (p) arm of the X chromosome between positions 21.3 and 21.2
  • IL-1-RAPL-1
  • IL-1RAPL-1
  • IL1R8
  • IL1RAPL-1
  • MRX10
  • MRX21
  • MRX34
  • OPHN4
  • TIGIRR-2