IL1RAPL1

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IL1RAPL1
Protein IL1RAPL1 PDB 1t3g.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases IL1RAPL1, IL1R8, IL1RAPL, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2, interleukin 1 receptor accessory protein like 1
External IDs MGI: 2687319 HomoloGene: 8609 GeneCards: 11141
Genetically Related Diseases
Disease Name References
cardiovascular disease
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014271

NM_001160403

RefSeq (protein)

NP_055086.1

n/a

Location (UCSC) Chr X: 28.59 – 29.96 Mb Chr X: 86.74 – 88.12 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

X-linked interleukin-1 receptor accessory protein-like 1 is a protein that in humans is encoded by the IL1RAPL1 gene.[1][2][3]

Function[edit]

The protein encoded by this gene is a member of the interleukin-1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2).[3]

Clinical significance[edit]

This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. 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.[3]

References[edit]

  1. ^ Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J (Sep 1999). "A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation". Nat Genet 23 (1): 25–31. doi:10.1038/12623. PMID 10471494. 
  2. ^ Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG (May 2000). "Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation". Eur J Hum Genet 8 (2): 87–94. doi:10.1038/sj.ejhg.5200415. PMID 10757639. 
  3. ^ a b c "Entrez Gene: IL1RAPL1 interleukin 1 receptor accessory protein-like 1". 

Further reading[edit]