IL1RAPL1 - interleukin 1 receptor accessory protein like 1 Gene

Homo sapiens

Also known as IL1R8; MRX10; MRX21; MRX34; OPHN4; IL1RAPL; TIGIRR-2; IL1RAPL-1; IL-1RAPL-1; IL-1-RAPL-1

Gene ID: 11141 | Gene type: protein coding

About IL1RAPL1

Cytogenetic location: Xp21.3-p21.2 Genomic coordinates (GRCh38): X:28,587,446-29,956,718 (from NCBI)

This gene has 2 transcripts (splice variants), 294 orthologues, 10 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

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]

IL1RAPL1 Products(1)

mRNA	Protein	Name
NM_014271.4	NP_055086.1	interleukin-1 receptor accessory protein-like 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables interleukin-1 binding	IDA IDA: Inferred from direct assay	12783849	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12783849	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of exocytosis	IDA IDA: Inferred from direct assay	12783849	GOA
involved in regulation of postsynapse organization	IDA IDA: Inferred from direct assay	21926414	GOA
involved in regulation of postsynapse organization	IMP IMP: Inferred from mutant phenotype	21926414	GOA
involved in regulation of presynapse assembly	IDA IDA: Inferred from direct assay	21926414	GOA
involved in regulation of presynapse assembly	IMP IMP: Inferred from mutant phenotype	21926414	GOA
involved in trans-synaptic signaling by trans-synaptic complex	IDA IDA: Inferred from direct assay	21926414	GOA
involved in trans-synaptic signaling by trans-synaptic complex	IMP IMP: Inferred from mutant phenotype	21926414	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	21926414	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	21926414	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12783849	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IL1RAPL1 Protein Structure

Ig_2

I-set

TIR

0
200
400
600
696 a.a.

Protein Preferred Names

Protein Names

interleukin-1 receptor accessory protein-like 1

X-linked interleukin-1 receptor accessory protein-like 1

Recombinant IL1RAPL1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70923	IL1RAPL1 Protein, Human (HEK293, His)	Q9NZN1-1 (L19-T357)	≥95%

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked 21

Mental Retardation, X-Linked 34	XLID21
Mrx21	Mrx34
Mental Retardation, X-Linked 21	Atkin Syndrome

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Glycerol Kinase Deficiency

Hyperglycerolemia	GKD
Gk Deficiency	Gk1 Deficiency
Deficiency Of Glycerol Kinase	Isolated Glycerol Kinase Deficiency
Glycerol Kinase Deficiency, Adult Form	Glycerol Kinase Deficiency, Juvenile Form
Deficiency, Glycerol Kinase

Adrenal Hypoplasia, Congenital

X-Linked Adrenal Hypoplasia Congenita	Congenital Adrenal Hypoplasia
AHC	Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism
Adrenal Hypoplasia Congenita	X-Linked Ahc
Ahch	Ahx
Ahc With Hhg	Cytomegalic Adrenocortical Hypoplasia
Ahc With Isolated Gonadotropin Deficiency	X-Linked Congenital Adrenal Hypoplasia
Congenital Adrenal Hypoplasia, X-Linked	Addison Disease, X-Linked
Primary Adrenal Hypoplasia	Adrenal Hypoplasia Congenital, X-Linked
X-Linked Addison Disease	X-Linked Adrenal Hypoplasia Congenital
Congenital Hypoplasia Of Adrenal Gland	Congenital Adrenal Gland Hypoplasia
Congenital Small Adrenal Gland	Adrenal Hypoplasia
Cah - [Congenital Adrenal Hypoplasia]

Chromosome Xp21 Deletion Syndrome

Complex Glycerol Kinase Deficiency	Xp21 Microdeletion Syndrome
Monosomy Xp21	Xp21 Deletion Syndrome
Complex Gkd	Del
Xp21 Contiguous Gene Deletion Syndrome	Glycerol Kinase Deficiency - Contiguous Gene Syndrome

Syndromic Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 91

Mrx91

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type	Hsd10 Disease, Atypical Type
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome	Mrxs10
Mental Retardation, X-Linked, Syndromic 10

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1	Mrx18
Mrx78	X-Linked Mental Retardation 1/78
X-Linked Mental Retardation 18

Intellectual Developmental Disorder, Autosomal Dominant 4

MRD4	Autosomal Dominant Non-Syndromic Intellectual Disability 4
Mental Retardation, Autosomal Dominant 4	Autosomal Dominant Intellectual Developmental Disorder 4

Non-Syndromic X-Linked Intellectual Disability 30

Mrx30	Mrx47
X-Linked Mental Retardation 30/47	X-Linked Mental Retardation 47
Mental Retardation, X-Linked, Type 30/47

Non-Syndromic X-Linked Intellectual Disability 106

Mrx106

X-Linked Mental Retardation 106

Non-Syndromic X-Linked Intellectual Disability 58

Mrx58

Non-Syndromic X-Linked Intellectual Disability 98

Mrx98

X-Linked Mental Retardation 98

Hypoadrenocorticism, Familial

Addison Disease	Primary Adrenocortical Insufficiency
Addison'S Disease	Adrenal Gland Hypofunction
Adrenal Hypoplasia	Adrenal Aplasia
Addison Disease, Chronic Adrenal Insufficiency	Primary Hypoadrenalism
Hypoadrenocorticism Familial	Autoimmune Addison Disease
Autoimmune Adrenalitis	Classic Addison Disease
Primary Addison Disease	Addisons Disease
Addison Disease, Susceptibility To	Autoimmune Primary Adrenal Insufficiency
Addison'S Disease Due To Autoimmunity

Chromosome 9p Deletion Syndrome

Monosomy 9p	Monosomy 9p Syndrome
Alfi Syndrome	9p Syndrome
Chromosome 9p Deletion	9p Deletion
9p Monosomy	Deletion 9p
Partial Monosomy 9p	9p Deletion Syndrome
9p- Syndrome	Alfi'S Syndrome
Chromosome 9, Partial Trisomy 9p

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06723	IL1RAPL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	IL1RAPL1	VGNC	VGNC:73719
Canis familiaris	IL1RAPL1	VGNC	VGNC:103683
Rattus norvegicus	IL1RAPL1	RGD	RGD:727891
Mus musculus	IL1RAPL1	MGD	MGI:2687319
Others	IL1RAPL1	NCBI

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