interleukin 1 receptor accessory protein like 1

Summary
Gene Symbol
  • IL1RAPL1
Aliases
  • IL1R8
  • OPHN4
  • TIGIRR-2
Organism
Homo sapiens (human)
NCBI Gene
11141
HGNC
5996
PubChem
11141
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Cell projection
  • Cytoplasm
  • Disulfide bond
  • Glycoprotein
  • Hydrolase
  • Immunoglobulin domain
  • Intellectual disability
  • NAD
  • Receptor
  • Reference proteome
  • Repeat
  • Signal
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
X5DNQ7
  • X-linked interleukin-1 receptor accessory protein-like 1
Q9NZN1
  • Oligophrenin-4
  • Three immunoglobulin domain-containing IL-1 receptor-related 2
  • X-linked interleukin-1 receptor accessory protein-like 1
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
interleukin-1 receptor accessory protein-like 1-like
Functional Category
  • L: Replication, recombination and repair
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0112022 non-syndromic X-linked intellectual disability 21
DOID:1059 intellectual disability
The Human Phenotype Ontology
Displaying entries 1 - 10 of 19 in total
HPO ID HPO Term
HP:0000053 Macroorchidism
HP:0000194 Open mouth
HP:0000303 Mandibular prognathia
HP:0000316 Hypertelorism
HP:0000486 Strabismus
HP:0000582 Upslanted palpebral fissure
HP:0000664 Synophrys
HP:0000678 Dental crowding
HP:0000717 Autism
HP:0000752 Hyperactivity
Displaying 1 entry
Disease ID Disease Name
OMIM:300143
  • intellectual disability, X-linked 21

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024