IL1RAPL1 - interleukin 1 receptor accessory protein like 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11141

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	References	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	References	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	References	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%, as determined by reducing SDS-PAGE.

IL1RAPL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84841	IL1RAPL1 Antibody (YA4538)	WB, ICC/IF, FC, ELISA	Human
HY-P84841A	IL1RAPL1 Antibody (YA4538)(PBS only)	WB, ICC/IF, FC, ELISA	Human

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06723	IL1RAPL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17932	Il1rapl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24402	Il1rapl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991468	IMM20324	Inhibitor	/	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