IL1RAPL1 interleukin 1 receptor accessory protein like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL1RAPL1provided by HGNC
Official Full Name: interleukin 1 receptor accessory protein like 1provided by HGNC
Primary source: HGNC:HGNC:5996
See related: Ensembl:ENSG00000169306 MIM:300206; AllianceGenome:HGNC:5996
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IL1R8; MRX10; MRX21; MRX34; OPHN4; IL1RAPL; TIGIRR-2; IL1RAPL-1; IL-1RAPL-1; IL-1-RAPL-1
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xp21.3-p21.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (28587446..29956718)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (28179409..29548899)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (28605563..29974835)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IL-1R8 expression in DLBCL regulates NK cell recruitment and influences patient prognosis.
Title: IL-1R8 expression in DLBCL regulates NK cell recruitment and influences patient prognosis.
RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.
Title: RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.
The mutations and deletion of IL1RAPL1 gene are related to different phenotypes (even in the same family and in patients with the same mutation) including different severity of Intellectual Disability.
Title: The Synaptic and Neuronal Functions of the X-Linked Intellectual Disability Protein Interleukin-1 Receptor Accessory Protein Like 1 (IL1RAPL1).
Our study revealed that the expression of IL-1R8 significantly increased on in vitro-activated CD4+ T cells and was markedly higher on CD4+ T cells from allergic rhinitis patients than on cells from healthy controls.
Title: Increased expression of IL-1R8 and a possible immunomodulatory role of its ligand IL-37 in allergic rhinitis patients.
IL-1R8 serves as a checkpoint for NK cell maturation and effector function; its genetic blockade unleashes NK-cell-mediated resistance to hepatic carcinogenesis, haematogenous liver and lung metastasis, and cytomegalovirus infection in mice
Title: IL-1R8 is a checkpoint in NK cells regulating anti-tumour and anti-viral activity.
Altered DNA methylation in IL1RAPL1 involves in the etiology of Bipolar disorder and Major Depressive disorder .
Title: Preliminary assessment of pre-morbid DNA methylation in individuals at high genetic risk of mood disorders.
rs12007907 variant in IL1RAPL gene was negatively associated with asthma and IL-13 production in Latin American children.
Title: Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children.
Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype
Title: Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
It was indicated that a defect in IL1RAPL1 that controls excitatory synapsis formation results in the excitation-inhibition balance affecting various cerebral functions.
Title: [Phenotypic analysis of IL1RAPL1 knockout mice].
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Title: Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual disability, X-linked 21 MedGen: C5551510 OMIM: 300143 GeneReviews: NR0B1-Related Adrenal Hypoplasia Congenita	not available

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-11-14) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-11-14) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16438 (e-PCR)
- UniSTS:27666

RH46137 (e-PCR)
- UniSTS:55320

SHGC-37351 (e-PCR)
- UniSTS:63519

RH119559 (e-PCR)
- UniSTS:132642

DXS9896 (e-PCR), detects polymorphism
- UniSTS:30255

DXS1147 (e-PCR)
- UniSTS:98878

SHGC-145120 (e-PCR)
- UniSTS:174403

RH118463 (e-PCR)
- UniSTS:137798

DXS7549 (e-PCR)
- UniSTS:76124

G43644 (e-PCR)
- UniSTS:95071

SHGC-82540 (e-PCR)
- UniSTS:100703

G66845 (e-PCR)
- UniSTS:166761

WI-13533 (e-PCR)
- UniSTS:41070

G66898 (e-PCR)
- UniSTS:166771

IL1RAPL1_153 (e-PCR)
- UniSTS:277370

DXS7508 (e-PCR)
- UniSTS:20350

BAC_374-A19 (e-PCR)
- UniSTS:262283

AFM066XF3 (e-PCR)
- UniSTS:19086

DXS7261 (e-PCR)
- UniSTS:148112

SHGC-79613 (e-PCR)
- UniSTS:104598

DXS1088 (e-PCR)
- UniSTS:148121

DXS1086 (e-PCR)
- UniSTS:99236

SHGC-81082 (e-PCR)
- UniSTS:103591

DXS7150 (e-PCR)
- UniSTS:2477

DXS7534 (e-PCR)
- UniSTS:60850

A008N45 (e-PCR)
- UniSTS:11711

DXS1218 (e-PCR), detects polymorphism
- UniSTS:88010

DXS1218 (e-PCR), detects polymorphism
- UniSTS:3800

SHGC-81223 (e-PCR)
- UniSTS:102360

L29671 (e-PCR)
- UniSTS:48089

RH118707 (e-PCR)
- UniSTS:138209

AFMA082XB9 (e-PCR)
- UniSTS:68855

RH118717 (e-PCR)
- UniSTS:109303

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD+ nucleosidase activity	IEA Inferred from Electronic Annotation more info
enables NAD+ nucleotidase, cyclic ADP-ribose generating	IEA Inferred from Electronic Annotation more info
NOT enables interleukin-1 binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in presynaptic membrane assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynapse organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of presynapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of presynapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in synaptic membrane adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in trans-synaptic signaling by trans-synaptic complex	IDA Inferred from Direct Assay more info	PubMed
involved_in trans-synaptic signaling by trans-synaptic complex	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: interleukin-1 receptor accessory protein-like 1

Names: X-linked interleukin-1 receptor accessory protein-like 1; interleukin 1 receptor-8; oligophrenin-4; three immunoglobulin domain-containing IL-1 receptor-related 2

NP_055086.1

EC 3.2.2.6

XP_016884729.1

EC 3.2.2.6

XP_016884730.1

EC 3.2.2.6

XP_054182380.1

EC 3.2.2.6

XP_054182381.1

EC 3.2.2.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008292.2 RefSeqGene

Range

4883..1374155

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014271.4 → NP_055086.1 interleukin-1 receptor accessory protein-like 1 precursor

See identical proteins and their annotated locations for NP_055086.1

Status: REVIEWED

Source sequence(s)

AC005748, AC112495, AF284435, AJ243874, DN994486

Consensus CDS

CCDS14218.1

UniProtKB/Swiss-Prot

A0AVG4, Q9NZN1, Q9UJ53

UniProtKB/TrEMBL

X5DNQ7

Related

ENSP00000368278.1, ENST00000378993.6

Conserved Domains (4) summary

cd05896
Location:32 → 135

Ig1_IL1RAPL-1_like; First immunoglobulin (Ig)-like domain of X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL-1)

smart00408
Location:260 → 341

IGc2; Immunoglobulin C-2 Type

pfam01582
Location:405 → 559

TIR; TIR domain

cl11960
Location:148 → 239

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

28587446..29956718

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029240.2 → XP_016884729.1 interleukin-1 receptor accessory protein-like 1 isoform X1

UniProtKB/Swiss-Prot

A0AVG4, Q9NZN1, Q9UJ53

UniProtKB/TrEMBL

X5DNQ7

Conserved Domains (4) summary

cd05896
Location:32 → 135

Ig1_IL1RAPL-1_like; First immunoglobulin (Ig)-like domain of X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL-1)

smart00408
Location:260 → 341

IGc2; Immunoglobulin C-2 Type

pfam01582
Location:405 → 559

TIR; TIR domain

cl11960
Location:148 → 239

Ig; Immunoglobulin domain
XM_017029241.2 → XP_016884730.1 interleukin-1 receptor accessory protein-like 1 isoform X2

Conserved Domains (4) summary

smart00408
Location:134 → 215

IGc2; Immunoglobulin C-2 Type

smart00410
Location:129 → 224

IG_like; Immunoglobulin like

pfam01582
Location:279 → 433

TIR; TIR domain

cl11960
Location:22 → 108

Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

28179409..29548899

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326405.1 → XP_054182380.1 interleukin-1 receptor accessory protein-like 1 isoform X1

UniProtKB/Swiss-Prot

A0AVG4, Q9NZN1, Q9UJ53

UniProtKB/TrEMBL

X5DNQ7
XM_054326406.1 → XP_054182381.1 interleukin-1 receptor accessory protein-like 1 isoform X2