IL1RAPL1

Chr Xp21.3-p21.2

interleukin 1 receptor accessory protein like 1

Aliases:: OPHN4, TIGIRR-2, IL1R8, IL1RAPL-1
MANE:: ENST00000378993.6

OMIM: 300206 ↗NCBI: 11141 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

IL1RAPL1 · Q9NZN1

v62025-08-01

Predicted Aligned Error matrix for IL1RAPL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.8/ 100

Confident

696 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)29%
Low(50–70)7%
Very low(< 50)21%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

intellectual disability, X-linked 21
0.72
X-linked non-syndromic intellectual disability
0.62
non-syndromic X-linked intellectual disability
0.46
hereditary disease
0.45
Intellectual disability
0.41
schizophrenia
0.33
severe acute respiratory syndrome
0.25
COVID-19
0.25
ventral hernia
0.25
vitiligo
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Interleukin-1 receptor accessory protein-like 1

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)